id subject predicate object category agent_type aggregator_knowledge_source knowledge_level original_predicate original_subject primary_knowledge_source publications qualifiers subject_form_or_variant_qualifier uuid:9763d85e-d8a7-11f1-ae73-e4fade41113c NCBIGene:374654 biolink:causes Orphanet:166024 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30497 infores:orphanet PMID:22587682 Assessed uuid:9763d85f-d8a7-11f1-ae73-e4fade41113c NCBIGene:175 biolink:causes Orphanet:93 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:318 infores:orphanet PMID:11309371 Assessed uuid:9763d860-d8a7-11f1-ae73-e4fade41113c NCBIGene:10283 biolink:causes Orphanet:166035 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10664 infores:orphanet PMID:28285769 Assessed uuid:9763d861-d8a7-11f1-ae73-e4fade41113c NCBIGene:285362 biolink:causes Orphanet:585 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20376 infores:orphanet PMID:17657823 Assessed uuid:9763d862-d8a7-11f1-ae73-e4fade41113c NCBIGene:4126 biolink:causes Orphanet:118 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6831 infores:orphanet PMID:18980795 Assessed uuid:9763d863-d8a7-11f1-ae73-e4fade41113c NCBIGene:283989 biolink:causes Orphanet:166063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27561 infores:orphanet Assessed uuid:9763d864-d8a7-11f1-ae73-e4fade41113c NCBIGene:7450 biolink:causes Orphanet:166078 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12726 infores:orphanet PMID:20301765 Assessed uuid:9763d865-d8a7-11f1-ae73-e4fade41113c NCBIGene:57038 biolink:causes Orphanet:166073 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21406 infores:orphanet Assessed uuid:9763d866-d8a7-11f1-ae73-e4fade41113c NCBIGene:7450 biolink:causes Orphanet:166084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12726 infores:orphanet PMID:20301765 Assessed uuid:9763d867-d8a7-11f1-ae73-e4fade41113c NCBIGene:427 biolink:causes Orphanet:333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:735 infores:orphanet PMID:24355074 Assessed uuid:9763d868-d8a7-11f1-ae73-e4fade41113c NCBIGene:2517 biolink:causes Orphanet:349 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4006 infores:orphanet PMID:10094192 Assessed uuid:9763d869-d8a7-11f1-ae73-e4fade41113c NCBIGene:7450 biolink:causes Orphanet:166090 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12726 infores:orphanet PMID:20301765 Assessed uuid:9763d86a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7450 biolink:causes Orphanet:166087 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12726 infores:orphanet PMID:20301765 Assessed uuid:9763d86b-d8a7-11f1-ae73-e4fade41113c NCBIGene:178 biolink:causes Orphanet:366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:321 infores:orphanet PMID:10571954|PMID:17908927 Assessed uuid:9763d86c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7450 biolink:causes Orphanet:166093 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12726 infores:orphanet PMID:20301765 Assessed uuid:9763d86d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5837 biolink:causes Orphanet:368 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9726 infores:orphanet Assessed uuid:9763d86e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7450 biolink:causes Orphanet:166096 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12726 infores:orphanet PMID:20301765 Assessed uuid:9763d86f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1302 biolink:causes Orphanet:166100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2187 infores:orphanet Assessed uuid:9763d870-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:gene_associated_with_condition Orphanet:166100 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2200 infores:orphanet PMID:16189708|PMID:21438135 Not yet assessed uuid:9763d871-d8a7-11f1-ae73-e4fade41113c NCBIGene:5213 biolink:causes Orphanet:371 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8877 infores:orphanet Assessed uuid:9763d872-d8a7-11f1-ae73-e4fade41113c NCBIGene:22868 biolink:causes Orphanet:166105 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29160 infores:orphanet PMID:18771761 Assessed loss_of_function_variant_form uuid:9763d873-d8a7-11f1-ae73-e4fade41113c NCBIGene:5836 biolink:causes Orphanet:369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9725 infores:orphanet Assessed uuid:9763d874-d8a7-11f1-ae73-e4fade41113c NCBIGene:5277 biolink:causes Orphanet:447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8957 infores:orphanet PMID:22305531 Assessed uuid:9763d875-d8a7-11f1-ae73-e4fade41113c NCBIGene:51305 biolink:causes Orphanet:166108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6283 infores:orphanet PMID:18678320 Assessed uuid:9763d876-d8a7-11f1-ae73-e4fade41113c NCBIGene:23592 biolink:causes Orphanet:166119 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28887 infores:orphanet PMID:26694706 Assessed loss_of_function_variant_form uuid:9763d877-d8a7-11f1-ae73-e4fade41113c NCBIGene:1834 biolink:causes Orphanet:166260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3054 infores:orphanet Assessed uuid:9763d878-d8a7-11f1-ae73-e4fade41113c NCBIGene:1834 biolink:causes Orphanet:166265 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3054 infores:orphanet Assessed uuid:9763d879-d8a7-11f1-ae73-e4fade41113c NCBIGene:9321 biolink:causes Orphanet:166272 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12305 infores:orphanet PMID:30728324 Assessed uuid:9763d87a-d8a7-11f1-ae73-e4fade41113c NCBIGene:79158 biolink:causes Orphanet:576 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29670 infores:orphanet PMID:18425436 Assessed loss_of_function_variant_form uuid:9763d87b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4758 biolink:causes Orphanet:812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7758 infores:orphanet PMID:14517945 Assessed uuid:9763d87c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57192 biolink:causes Orphanet:578 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13356 infores:orphanet PMID:21763169|PMID:21224396 Assessed loss_of_function_variant_form uuid:9763d87d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:166282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10593 infores:orphanet Assessed uuid:9763d87e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10021 biolink:causes Orphanet:166282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16882 infores:orphanet Assessed uuid:9763d87f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4624 biolink:contributes_to Orphanet:166282 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7576 infores:orphanet Assessed uuid:9763d880-d8a7-11f1-ae73-e4fade41113c NCBIGene:2783 biolink:causes Orphanet:166282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4398 infores:orphanet PMID:28219978 Assessed uuid:9763d881-d8a7-11f1-ae73-e4fade41113c NCBIGene:2706 biolink:causes Orphanet:166286 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4284 infores:orphanet PMID:22592158|PMID:25692760|PMID:26215685 Assessed uuid:9763d882-d8a7-11f1-ae73-e4fade41113c NCBIGene:412 biolink:causes Orphanet:461 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11425 infores:orphanet PMID:10583107|PMID:10692123 Assessed uuid:9763d883-d8a7-11f1-ae73-e4fade41113c NCBIGene:2312 biolink:contributes_to Orphanet:461 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:3748 infores:orphanet PMID:29054605 Assessed uuid:9763d884-d8a7-11f1-ae73-e4fade41113c NCBIGene:2990 biolink:causes Orphanet:584 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4696 infores:orphanet PMID:19224584 Assessed uuid:9763d885-d8a7-11f1-ae73-e4fade41113c NCBIGene:6505 biolink:causes Orphanet:166412 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10939 infores:orphanet PMID:28324217 Assessed uuid:9763d886-d8a7-11f1-ae73-e4fade41113c NCBIGene:2395 biolink:causes Orphanet:95 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3951 infores:orphanet PMID:21776984 Assessed loss_of_function_variant_form uuid:9763d887-d8a7-11f1-ae73-e4fade41113c NCBIGene:5265 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:8941 infores:orphanet PMID:19738092 Assessed uuid:9763d888-d8a7-11f1-ae73-e4fade41113c NCBIGene:1080 biolink:causes Orphanet:586 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1884 infores:orphanet PMID:22214395 Assessed loss_of_function_variant_form uuid:9763d889-d8a7-11f1-ae73-e4fade41113c NCBIGene:7040 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11766 infores:orphanet PMID:18424453 Assessed uuid:9763d88a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2729 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:4311 infores:orphanet PMID:16690975 Assessed uuid:9763d88b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4282 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:7097 infores:orphanet PMID:16179637 Assessed uuid:9763d88c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3077 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:4886 infores:orphanet PMID:30291871 Assessed uuid:9763d88d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6556 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:10907 infores:orphanet PMID:28756021 Assessed uuid:9763d88e-d8a7-11f1-ae73-e4fade41113c NCBIGene:51164 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:15518 infores:orphanet PMID:22772370 Assessed uuid:9763d88f-d8a7-11f1-ae73-e4fade41113c NCBIGene:22802 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:2018 infores:orphanet PMID:23073314 Assessed uuid:9763d890-d8a7-11f1-ae73-e4fade41113c NCBIGene:6804 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11433 infores:orphanet PMID:23572023 Assessed uuid:9763d891-d8a7-11f1-ae73-e4fade41113c NCBIGene:3783 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:6293 infores:orphanet PMID:29915289 Assessed uuid:9763d892-d8a7-11f1-ae73-e4fade41113c NCBIGene:1909 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:3179 infores:orphanet PMID:20028935 Assessed uuid:9763d893-d8a7-11f1-ae73-e4fade41113c NCBIGene:6550 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11073 infores:orphanet PMID:28756021 Assessed uuid:9763d894-d8a7-11f1-ae73-e4fade41113c NCBIGene:3162 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:5013 infores:orphanet PMID:28289476 Assessed uuid:9763d895-d8a7-11f1-ae73-e4fade41113c NCBIGene:11254 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11047 infores:orphanet PMID:28756021 Assessed uuid:9763d896-d8a7-11f1-ae73-e4fade41113c NCBIGene:115019 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:14469 infores:orphanet PMID:28756021 Assessed uuid:9763d897-d8a7-11f1-ae73-e4fade41113c NCBIGene:1084 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:1815 infores:orphanet PMID:20047061 Assessed uuid:9763d898-d8a7-11f1-ae73-e4fade41113c NCBIGene:4680 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:1818 infores:orphanet PMID:20047061 Assessed uuid:9763d899-d8a7-11f1-ae73-e4fade41113c NCBIGene:2947 biolink:contributes_to Orphanet:586 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:4635 infores:orphanet PMID:28289476 Assessed uuid:9763d89a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4512 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7419 infores:orphanet PMID:22832341|PMID:19568996 Assessed uuid:9763d89b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4513 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7421 infores:orphanet PMID:18245391 Assessed uuid:9763d89c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4514 biolink:gene_associated_with_condition Orphanet:550 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7422 infores:orphanet PMID:18587274 Not yet assessed uuid:9763d89d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4535 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7455 infores:orphanet PMID:15657614 Assessed uuid:97646c42-d8a7-11f1-ae73-e4fade41113c NCBIGene:4538 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7459 infores:orphanet Assessed uuid:97646c43-d8a7-11f1-ae73-e4fade41113c NCBIGene:4540 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7461 infores:orphanet PMID:18587274|PMID:20301411 Assessed uuid:97646c44-d8a7-11f1-ae73-e4fade41113c NCBIGene:4541 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7462 infores:orphanet PMID:11781695 Assessed uuid:97646c45-d8a7-11f1-ae73-e4fade41113c NCBIGene:4567 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7490 infores:orphanet PMID:20301411 Assessed uuid:97646c46-d8a7-11f1-ae73-e4fade41113c NCBIGene:4572 biolink:gene_associated_with_condition Orphanet:550 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7495 infores:orphanet Not yet assessed uuid:97646c47-d8a7-11f1-ae73-e4fade41113c NCBIGene:4578 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7501 infores:orphanet PMID:23696415 Assessed uuid:97646c48-d8a7-11f1-ae73-e4fade41113c NCBIGene:4564 biolink:gene_associated_with_condition Orphanet:550 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7487 infores:orphanet PMID:14967777|PMID:15111688 Not yet assessed uuid:97646c49-d8a7-11f1-ae73-e4fade41113c NCBIGene:4574 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7497 infores:orphanet PMID:17894844 Assessed uuid:97646c4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4575 biolink:gene_associated_with_condition Orphanet:550 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7498 infores:orphanet PMID:16950817 Not yet assessed uuid:97646c4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4558 biolink:causes Orphanet:550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7481 infores:orphanet PMID:9771776 Assessed uuid:97646c4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1789 biolink:contributes_to Orphanet:269 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:2979 infores:orphanet PMID:27153398 Assessed uuid:97646c4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:22947 biolink:gene_associated_with_condition Orphanet:269 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3082 infores:orphanet Not yet assessed uuid:97646c4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2483 biolink:gene_associated_with_condition Orphanet:269 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3954 infores:orphanet PMID:23300487|PMID:23525014|PMID:23720823 Not yet assessed uuid:97646c4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23347 biolink:causes Orphanet:269 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29090 infores:orphanet PMID:23143600|PMID:24128691 Assessed uuid:97646c50-d8a7-11f1-ae73-e4fade41113c NCBIGene:23347 biolink:contributes_to Orphanet:269 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:29090 infores:orphanet PMID:24075187 Assessed uuid:97646c51-d8a7-11f1-ae73-e4fade41113c NCBIGene:100288687 biolink:gene_associated_with_condition Orphanet:269 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:50800 infores:orphanet Not yet assessed uuid:97646c52-d8a7-11f1-ae73-e4fade41113c NCBIGene:4567 biolink:gene_associated_with_condition Orphanet:480 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7490 infores:orphanet Not yet assessed uuid:97646c53-d8a7-11f1-ae73-e4fade41113c NCBIGene:4509 biolink:gene_associated_with_condition Orphanet:480 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7415 infores:orphanet Not yet assessed uuid:97646c54-d8a7-11f1-ae73-e4fade41113c NCBIGene:50484 biolink:causes Orphanet:480 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17296 infores:orphanet PMID:21378381 Assessed uuid:97646c55-d8a7-11f1-ae73-e4fade41113c NCBIGene:4540 biolink:causes Orphanet:551 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7461 infores:orphanet Assessed uuid:97646c56-d8a7-11f1-ae73-e4fade41113c NCBIGene:4567 biolink:causes Orphanet:551 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7490 infores:orphanet PMID:8254046 Assessed uuid:97646c57-d8a7-11f1-ae73-e4fade41113c NCBIGene:4566 biolink:causes Orphanet:551 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7489 infores:orphanet PMID:20301693 Assessed uuid:97646c58-d8a7-11f1-ae73-e4fade41113c NCBIGene:4549 biolink:gene_associated_with_condition Orphanet:551 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7470 infores:orphanet Not yet assessed uuid:97646c59-d8a7-11f1-ae73-e4fade41113c NCBIGene:4572 biolink:gene_associated_with_condition Orphanet:551 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7495 infores:orphanet PMID:23179085 Not yet assessed uuid:97646c5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4564 biolink:causes Orphanet:551 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7487 infores:orphanet PMID:14967777 Assessed uuid:97646c5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4574 biolink:causes Orphanet:551 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7497 infores:orphanet PMID:7669057 Assessed uuid:97646c5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4575 biolink:gene_associated_with_condition Orphanet:551 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7498 infores:orphanet PMID:16950817 Not yet assessed uuid:97646c5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4558 biolink:causes Orphanet:551 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7481 infores:orphanet PMID:15184630 Assessed uuid:97646c5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4571 biolink:causes Orphanet:551 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7494 infores:orphanet PMID:19273760|PMID:27816331 Assessed uuid:97646c5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:597 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:20301565 Assessed uuid:97646c60-d8a7-11f1-ae73-e4fade41113c NCBIGene:6663 biolink:causes Orphanet:163746 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11190 infores:orphanet PMID:22963253|PMID:24311220 Assessed uuid:97646c61-d8a7-11f1-ae73-e4fade41113c NCBIGene:6329 biolink:causes Orphanet:684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10591 infores:orphanet PMID:10369308 Assessed uuid:97646c62-d8a7-11f1-ae73-e4fade41113c NCBIGene:26525 biolink:causes Orphanet:163931 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15561 infores:orphanet PMID:23303454 Assessed uuid:97646c63-d8a7-11f1-ae73-e4fade41113c NCBIGene:130340 biolink:causes Orphanet:163931 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18971 infores:orphanet PMID:24791904 Assessed uuid:97646c64-d8a7-11f1-ae73-e4fade41113c NCBIGene:26525 biolink:causes Orphanet:163927 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15561 infores:orphanet PMID:23303454 Assessed uuid:97646c65-d8a7-11f1-ae73-e4fade41113c NCBIGene:130340 biolink:causes Orphanet:163927 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18971 infores:orphanet PMID:24791904 Assessed uuid:97646c66-d8a7-11f1-ae73-e4fade41113c NCBIGene:8573 biolink:causes Orphanet:163937 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1497 infores:orphanet PMID:19165920 Assessed uuid:97646c67-d8a7-11f1-ae73-e4fade41113c NCBIGene:1180 biolink:causes Orphanet:614 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2019 infores:orphanet PMID:20301529 Assessed loss_of_function_variant_form uuid:97646c68-d8a7-11f1-ae73-e4fade41113c NCBIGene:10013 biolink:causes Orphanet:163966 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14064 infores:orphanet PMID:20181727 Assessed uuid:97646c69-d8a7-11f1-ae73-e4fade41113c NCBIGene:5422 biolink:causes Orphanet:163976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9173 infores:orphanet PMID:31006512 Assessed uuid:97646c6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7319 biolink:causes Orphanet:163956 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12472 infores:orphanet PMID:16909393 Assessed uuid:97646c6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2717 biolink:causes Orphanet:324 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4296 infores:orphanet PMID:20301469 Assessed uuid:97646c6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23229 biolink:causes Orphanet:163985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14561 infores:orphanet PMID:20301437 Assessed loss_of_function_variant_form uuid:97646c6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4204 biolink:causes Orphanet:778 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6990 infores:orphanet PMID:20301670 Assessed uuid:97646c6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:785 biolink:contributes_to Orphanet:307 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1404 infores:orphanet PMID:23756480 Assessed uuid:97646c6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:114327 biolink:contributes_to Orphanet:307 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16406 infores:orphanet PMID:23756480 Assessed uuid:97646c70-d8a7-11f1-ae73-e4fade41113c NCBIGene:2554 biolink:contributes_to Orphanet:307 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4075 infores:orphanet PMID:23756480 Assessed uuid:97646c71-d8a7-11f1-ae73-e4fade41113c NCBIGene:2563 biolink:contributes_to Orphanet:307 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4084 infores:orphanet PMID:23756480 Assessed uuid:97646c72-d8a7-11f1-ae73-e4fade41113c NCBIGene:3786 biolink:contributes_to Orphanet:307 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6297 infores:orphanet PMID:12928862 Assessed uuid:97646c73-d8a7-11f1-ae73-e4fade41113c NCBIGene:8629 biolink:gene_associated_with_condition Orphanet:307 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6199 infores:orphanet PMID:11463517 Not yet assessed uuid:97646c74-d8a7-11f1-ae73-e4fade41113c NCBIGene:22858 biolink:contributes_to Orphanet:307 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:21219 infores:orphanet PMID:29539279 Assessed uuid:97646c75-d8a7-11f1-ae73-e4fade41113c NCBIGene:1181 biolink:contributes_to Orphanet:307 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2020 infores:orphanet PMID:12612585|PMID:19191339|PMID:23756480 Assessed uuid:97646c76-d8a7-11f1-ae73-e4fade41113c NCBIGene:114327 biolink:contributes_to Orphanet:1941 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16406 infores:orphanet PMID:17159113 Assessed uuid:97646c77-d8a7-11f1-ae73-e4fade41113c NCBIGene:595 biolink:contributes_to Orphanet:892 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:1582 infores:orphanet PMID:12097293 Assessed uuid:97646c78-d8a7-11f1-ae73-e4fade41113c NCBIGene:7428 biolink:causes Orphanet:892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12687 infores:orphanet Assessed uuid:97646c79-d8a7-11f1-ae73-e4fade41113c NCBIGene:5314 biolink:causes Orphanet:731 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9016 infores:orphanet PMID:20301501 Assessed loss_of_function_variant_form uuid:97646c7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:199221 biolink:causes Orphanet:731 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26551 infores:orphanet PMID:28530676 Assessed loss_of_function_variant_form uuid:97646c7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1453 biolink:causes Orphanet:164736 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2452 infores:orphanet PMID:15800623 Assessed uuid:97646c7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8864 biolink:causes Orphanet:164736 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8846 infores:orphanet PMID:11232563 Assessed uuid:97646c7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8863 biolink:causes Orphanet:164736 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8847 infores:orphanet PMID:26903630 Assessed uuid:97646c7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:9723 biolink:gene_associated_with_condition Orphanet:138 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10727 infores:orphanet PMID:15235037 Not yet assessed uuid:97646c7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55636 biolink:causes Orphanet:138 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20626 infores:orphanet PMID:20301296 Assessed uuid:97646c80-d8a7-11f1-ae73-e4fade41113c NCBIGene:29967 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31708 infores:orphanet PMID:37339631 Assessed uuid:97646c81-d8a7-11f1-ae73-e4fade41113c NCBIGene:6311 biolink:contributes_to Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10555 infores:orphanet PMID:24085347 Assessed uuid:97646c82-d8a7-11f1-ae73-e4fade41113c NCBIGene:25978 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24537 infores:orphanet PMID:20352044|PMID:23155438|PMID:16807408 Assessed uuid:97646c83-d8a7-11f1-ae73-e4fade41113c NCBIGene:6647 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11179 infores:orphanet PMID:20301623|PMID:23941283 Assessed uuid:97646c84-d8a7-11f1-ae73-e4fade41113c NCBIGene:54209 biolink:contributes_to Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17761 infores:orphanet PMID:24535663 Assessed uuid:97646c85-d8a7-11f1-ae73-e4fade41113c NCBIGene:9217 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12649 infores:orphanet PMID:20301623|PMID:23941283 Assessed uuid:97646c86-d8a7-11f1-ae73-e4fade41113c NCBIGene:7415 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12666 infores:orphanet PMID:24085347 Assessed uuid:97646c87-d8a7-11f1-ae73-e4fade41113c NCBIGene:4744 biolink:contributes_to Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7737 infores:orphanet PMID:23941283 Assessed uuid:97646c88-d8a7-11f1-ae73-e4fade41113c NCBIGene:10133 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17142 infores:orphanet PMID:24085347 Assessed uuid:97646c89-d8a7-11f1-ae73-e4fade41113c NCBIGene:1639 biolink:gene_associated_with_condition Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2711 infores:orphanet PMID:23941283 Not yet assessed uuid:97646c8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23435 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11571 infores:orphanet PMID:24085347 Assessed uuid:97646c8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9896 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16873 infores:orphanet PMID:24085347 Assessed uuid:97646c8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2521 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4010 infores:orphanet PMID:24085347 Assessed uuid:97646c8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:283 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:483 infores:orphanet PMID:23941283|PMID:20301623 Assessed uuid:97646c8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2733 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4315 infores:orphanet PMID:25343993 Assessed uuid:97646c8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9782 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6912 infores:orphanet PMID:24686783 Assessed uuid:97646c90-d8a7-11f1-ae73-e4fade41113c NCBIGene:5630 biolink:contributes_to Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9461 infores:orphanet PMID:20363051 Assessed uuid:97646c91-d8a7-11f1-ae73-e4fade41113c NCBIGene:1610 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2671 infores:orphanet PMID:24085347|PMID:20368421 Assessed uuid:97646c92-d8a7-11f1-ae73-e4fade41113c NCBIGene:4750 biolink:contributes_to Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7744 infores:orphanet PMID:26945885 Assessed uuid:97646c93-d8a7-11f1-ae73-e4fade41113c NCBIGene:8878 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11280 infores:orphanet PMID:23303844|PMID:24138988|PMID:22084127|PMID:24085347 Assessed uuid:97646c94-d8a7-11f1-ae73-e4fade41113c NCBIGene:29978 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12509 infores:orphanet PMID:24085347 Assessed uuid:97646c95-d8a7-11f1-ae73-e4fade41113c NCBIGene:203228 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28337 infores:orphanet PMID:24085347 Assessed uuid:97646c96-d8a7-11f1-ae73-e4fade41113c NCBIGene:5216 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8881 infores:orphanet PMID:22801503|PMID:23428184|PMID:24085347 Assessed uuid:97646c97-d8a7-11f1-ae73-e4fade41113c NCBIGene:29110 biolink:contributes_to Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11584 infores:orphanet PMID:25700176 Assessed uuid:97646c98-d8a7-11f1-ae73-e4fade41113c NCBIGene:3178 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5031 infores:orphanet PMID:23455423 Assessed uuid:97646c99-d8a7-11f1-ae73-e4fade41113c NCBIGene:8148 biolink:gene_associated_with_condition Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11547 infores:orphanet PMID:21438137 Not yet assessed uuid:97646c9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2066 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3432 infores:orphanet PMID:24119685 Assessed uuid:97646c9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:23025 biolink:contributes_to Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:23150 infores:orphanet PMID:24931836|PMID:19734901 Assessed uuid:97646c9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:400916 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15559 infores:orphanet PMID:25113787|PMID:25261972|PMID:25113788|PMID:25261971|PMID:25348631|PMID:25348633|PMID:25155093 Assessed uuid:97646c9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:755 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1260 infores:orphanet PMID:27455348|PMID:26974433 Assessed uuid:97646c9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:899 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1591 infores:orphanet PMID:27080313 Assessed uuid:97646c9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:311 biolink:causes Orphanet:803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:535 infores:orphanet PMID:28469040 Assessed uuid:97646ca0-d8a7-11f1-ae73-e4fade41113c NCBIGene:55830 biolink:contributes_to Orphanet:803 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:24870 infores:orphanet PMID:30811981 Assessed uuid:97646ca1-d8a7-11f1-ae73-e4fade41113c NCBIGene:472 biolink:causes Orphanet:100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:795 infores:orphanet PMID:20301790 Assessed uuid:97646ca2-d8a7-11f1-ae73-e4fade41113c NCBIGene:324 biolink:causes Orphanet:733 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:583 infores:orphanet PMID:31070935 Assessed uuid:97646ca3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3064 biolink:causes Orphanet:399 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4851 infores:orphanet PMID:20301482|PMID:21566141 Assessed gain_of_function_variant_form uuid:97646ca4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6515 biolink:contributes_to Orphanet:399 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11007 infores:orphanet PMID:24452335 Assessed uuid:97646ca5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7957 biolink:causes Orphanet:501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3413 infores:orphanet PMID:20301563|PMID:22047982|PMID:22669944 Assessed loss_of_function_variant_form uuid:97646ca6-d8a7-11f1-ae73-e4fade41113c NCBIGene:378884 biolink:causes Orphanet:501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21576 infores:orphanet PMID:20301563|PMID:22047982|PMID:22669944 Assessed loss_of_function_variant_form uuid:97646ca7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6899 biolink:causes Orphanet:567 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11592 infores:orphanet PMID:14585638 Assessed uuid:97646ca8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6899 biolink:gene_associated_with_condition Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11592 infores:orphanet Assessed uuid:97646ca9-d8a7-11f1-ae73-e4fade41113c NCBIGene:421 biolink:gene_associated_with_condition Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:728 infores:orphanet Assessed uuid:97646caa-d8a7-11f1-ae73-e4fade41113c NCBIGene:2812 biolink:gene_associated_with_condition Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4440 infores:orphanet Assessed uuid:97646cab-d8a7-11f1-ae73-e4fade41113c NCBIGene:7353 biolink:gene_associated_with_condition Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12520 infores:orphanet Assessed uuid:97646cac-d8a7-11f1-ae73-e4fade41113c NCBIGene:1312 biolink:gene_associated_with_condition Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2228 infores:orphanet PMID:23992923 Assessed uuid:97646cad-d8a7-11f1-ae73-e4fade41113c NCBIGene:7290 biolink:gene_associated_with_condition Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4916 infores:orphanet PMID:15177686 Assessed uuid:97646cae-d8a7-11f1-ae73-e4fade41113c NCBIGene:221037 biolink:contributes_to Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:12313 infores:orphanet PMID:26608785 Assessed uuid:97646caf-d8a7-11f1-ae73-e4fade41113c NCBIGene:6239 biolink:contributes_to Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:10449 infores:orphanet PMID:26608785 Assessed uuid:97646cb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:9632 biolink:contributes_to Orphanet:567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:10705 infores:orphanet PMID:26608785 Assessed uuid:97646cb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:232 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:20301551|PMID:24361300 Assessed uuid:97646cb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:11277 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12269 infores:orphanet PMID:17660818|PMID:23732569 Assessed uuid:97646cb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1493 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2505 infores:orphanet PMID:23922195 Assessed uuid:97646cb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:22654485|PMID:19838195|PMID:23917156|PMID:23407388|PMID:22893315|PMID:23793423|PMID:21695597 Assessed uuid:97646cb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3500 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:5525 infores:orphanet PMID:30287618 Assessed uuid:97646cb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3586 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5962 infores:orphanet PMID:23936042|PMID:22654485|PMID:19838195|PMID:20576226 Assessed uuid:97646cb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4204 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6990 infores:orphanet PMID:23857988|PMID:23428850|PMID:22904263|PMID:19440199|PMID:22654485 Assessed uuid:97646cb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2215 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3620 infores:orphanet PMID:23917156|PMID:21296850|PMID:20442749 Assessed uuid:97646cb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:720 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1323 infores:orphanet PMID:22654485|PMID:23914156|PMID:10092831|PMID:17503323|PMID:15998580|PMID:12133986 Assessed uuid:97646cba-d8a7-11f1-ae73-e4fade41113c NCBIGene:721 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1324 infores:orphanet PMID:3265961|PMID:22654485|PMID:23914156|PMID:10092831|PMID:17503323|PMID:15998580|PMID:12133986 Assessed uuid:97646cbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1380 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2336 infores:orphanet PMID:17360460|PMID:22673213 Assessed uuid:97646cbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:640 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1057 infores:orphanet PMID:22696686|PMID:22654485|PMID:24091983 Assessed uuid:97646cbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:3663 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6120 infores:orphanet PMID:15657875|PMID:23943494|PMID:23917156|PMID:22654485 Assessed uuid:97646cbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:5133 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:8760 infores:orphanet PMID:12402038 Assessed uuid:97646cbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:26191 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9652 infores:orphanet PMID:15273934|PMID:19838195|PMID:23966601|PMID:23950893|PMID:23943494|PMID:22654485 Assessed uuid:97646cc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6775 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11365 infores:orphanet PMID:17804842|PMID:23943494|PMID:22654485 Assessed uuid:97646cc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2213 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3618 infores:orphanet PMID:23943494|PMID:12115230|PMID:20385827 Assessed uuid:97657060-d8a7-11f1-ae73-e4fade41113c NCBIGene:1773 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2956 infores:orphanet PMID:11479590 Assessed uuid:97657061-d8a7-11f1-ae73-e4fade41113c NCBIGene:55024 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:18233 infores:orphanet PMID:22039224|PMID:21978998|PMID:21900951 Assessed uuid:97657062-d8a7-11f1-ae73-e4fade41113c NCBIGene:3684 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6149 infores:orphanet PMID:19286673|PMID:23917156|PMID:23943494 Assessed uuid:97657063-d8a7-11f1-ae73-e4fade41113c NCBIGene:79932 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:30071 infores:orphanet PMID:23740937 Assessed uuid:97657064-d8a7-11f1-ae73-e4fade41113c NCBIGene:54899 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:23326 infores:orphanet PMID:22592861 Assessed uuid:97657065-d8a7-11f1-ae73-e4fade41113c NCBIGene:221895 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:28917 infores:orphanet PMID:19838195 Assessed uuid:97657066-d8a7-11f1-ae73-e4fade41113c NCBIGene:10318 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16903 infores:orphanet PMID:23917156|PMID:23858047|PMID:22833143|PMID:22087647|PMID:19838195|PMID:22654485 Assessed uuid:97657067-d8a7-11f1-ae73-e4fade41113c NCBIGene:7128 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11896 infores:orphanet PMID:23943494|PMID:21336280|PMID:20617138|PMID:24039598|PMID:24091983|PMID:22654485 Assessed uuid:97657068-d8a7-11f1-ae73-e4fade41113c NCBIGene:7332 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12488 infores:orphanet PMID:23917156|PMID:22045845|PMID:22476155|PMID:24091983|PMID:23943494 Assessed uuid:97657069-d8a7-11f1-ae73-e4fade41113c NCBIGene:7292 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11934 infores:orphanet PMID:24091983|PMID:22850862|PMID:22820624|PMID:21905002|PMID:23943494|PMID:19838193|PMID:22654485 Assessed uuid:9765706a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6696 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11255 infores:orphanet PMID:19440199|PMID:11933203|PMID:24023622|PMID:18335026|PMID:15692970 Assessed uuid:9765706b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3654 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6112 infores:orphanet PMID:23435933|PMID:22904263|PMID:18050247|PMID:19440199|PMID:22654485|PMID:23943494 Assessed uuid:9765706c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2113 biolink:contributes_to Orphanet:536 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3488 infores:orphanet PMID:23236436|PMID:22087647 Assessed uuid:9765706d-d8a7-11f1-ae73-e4fade41113c NCBIGene:51284 biolink:causes Orphanet:536 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15631 infores:orphanet PMID:35477763 Assessed uuid:9765706e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1297 biolink:causes Orphanet:166002 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2217 infores:orphanet PMID:20301302 Assessed uuid:9765706f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1298 biolink:causes Orphanet:166002 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2218 infores:orphanet PMID:20301302 Assessed uuid:97657070-d8a7-11f1-ae73-e4fade41113c NCBIGene:1299 biolink:causes Orphanet:166002 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2219 infores:orphanet PMID:20301302 Assessed uuid:97657071-d8a7-11f1-ae73-e4fade41113c NCBIGene:4952 biolink:causes Orphanet:534 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8108 infores:orphanet PMID:20301653 Assessed loss_of_function_variant_form uuid:97657072-d8a7-11f1-ae73-e4fade41113c NCBIGene:6566 biolink:causes Orphanet:165991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10922 infores:orphanet PMID:17701893 Assessed uuid:97657073-d8a7-11f1-ae73-e4fade41113c NCBIGene:4221 biolink:causes Orphanet:652 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7010 infores:orphanet PMID:20301710 Assessed uuid:97657074-d8a7-11f1-ae73-e4fade41113c NCBIGene:1027 biolink:gene_associated_with_condition Orphanet:652 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1785 infores:orphanet PMID:22026581|PMID:25824098 Not yet assessed uuid:97657075-d8a7-11f1-ae73-e4fade41113c NCBIGene:1030 biolink:gene_associated_with_condition Orphanet:652 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1788 infores:orphanet PMID:19141585 Not yet assessed uuid:97657076-d8a7-11f1-ae73-e4fade41113c NCBIGene:2332 biolink:causes Orphanet:908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3775 infores:orphanet PMID:20301558 Assessed loss_of_function_variant_form uuid:97657077-d8a7-11f1-ae73-e4fade41113c NCBIGene:695 biolink:causes Orphanet:47 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1133 infores:orphanet PMID:20301626 Assessed uuid:97657078-d8a7-11f1-ae73-e4fade41113c NCBIGene:540 biolink:causes Orphanet:905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:870 infores:orphanet PMID:23333878|PMID:22240481 Assessed loss_of_function_variant_form uuid:97657079-d8a7-11f1-ae73-e4fade41113c NCBIGene:6247 biolink:causes Orphanet:792 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10457 infores:orphanet Assessed uuid:9765707a-d8a7-11f1-ae73-e4fade41113c NCBIGene:24 biolink:causes Orphanet:827 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34 infores:orphanet PMID:20633576 Assessed uuid:9765707b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:gene_associated_with_condition Orphanet:827 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9942 infores:orphanet Not yet assessed uuid:9765707c-d8a7-11f1-ae73-e4fade41113c NCBIGene:54714 biolink:gene_associated_with_condition Orphanet:827 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2153 infores:orphanet PMID:15712225 Not yet assessed uuid:9765707d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6785 biolink:causes Orphanet:827 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14415 infores:orphanet PMID:20633576 Assessed uuid:9765707e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8842 biolink:causes Orphanet:827 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9454 infores:orphanet PMID:18654668 Assessed uuid:9765707f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7454 biolink:causes Orphanet:906 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12731 infores:orphanet Assessed uuid:97657080-d8a7-11f1-ae73-e4fade41113c NCBIGene:5982 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9970 infores:orphanet PMID:20301427 Assessed uuid:97657081-d8a7-11f1-ae73-e4fade41113c NCBIGene:9031 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:961 infores:orphanet PMID:20301427 Assessed uuid:97657082-d8a7-11f1-ae73-e4fade41113c NCBIGene:26608 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11586 infores:orphanet PMID:20301427 Assessed uuid:97657083-d8a7-11f1-ae73-e4fade41113c NCBIGene:7461 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2586 infores:orphanet PMID:20301427 Assessed uuid:97657084-d8a7-11f1-ae73-e4fade41113c NCBIGene:2006 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3327 infores:orphanet PMID:20301427 Assessed uuid:97657085-d8a7-11f1-ae73-e4fade41113c NCBIGene:2969 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4659 infores:orphanet PMID:20301427 Assessed uuid:97657086-d8a7-11f1-ae73-e4fade41113c NCBIGene:9569 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4661 infores:orphanet PMID:20301427 Assessed uuid:97657087-d8a7-11f1-ae73-e4fade41113c NCBIGene:3984 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6613 infores:orphanet PMID:20301427 Assessed uuid:97657088-d8a7-11f1-ae73-e4fade41113c NCBIGene:653361 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7660 infores:orphanet PMID:9311751 Assessed uuid:97657089-d8a7-11f1-ae73-e4fade41113c NCBIGene:6804 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11433 infores:orphanet PMID:9311751 Assessed uuid:9765708a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8468 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3722 infores:orphanet PMID:9782077 Assessed uuid:9765708b-d8a7-11f1-ae73-e4fade41113c NCBIGene:155382 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:18287 infores:orphanet PMID:19897463 Assessed uuid:9765708c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84277 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16410 infores:orphanet Not yet assessed uuid:9765708d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7458 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12741 infores:orphanet PMID:8812460 Assessed uuid:9765708e-d8a7-11f1-ae73-e4fade41113c NCBIGene:114049 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:16405 infores:orphanet PMID:11978965 Assessed uuid:9765708f-d8a7-11f1-ae73-e4fade41113c NCBIGene:155368 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:19068 infores:orphanet PMID:18398435 Assessed uuid:97657090-d8a7-11f1-ae73-e4fade41113c NCBIGene:135886 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:23018 infores:orphanet PMID:18398435 Assessed uuid:97657091-d8a7-11f1-ae73-e4fade41113c NCBIGene:84163 biolink:gene_associated_with_condition Orphanet:904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:30775 infores:orphanet PMID:15243160 Assessed uuid:97657092-d8a7-11f1-ae73-e4fade41113c NCBIGene:7468 biolink:gene_associated_with_condition Orphanet:280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12766 infores:orphanet Assessed uuid:97657093-d8a7-11f1-ae73-e4fade41113c NCBIGene:7469 biolink:gene_associated_with_condition Orphanet:280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12768 infores:orphanet Not yet assessed uuid:97657094-d8a7-11f1-ae73-e4fade41113c NCBIGene:3954 biolink:gene_associated_with_condition Orphanet:280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6556 infores:orphanet Assessed uuid:97657095-d8a7-11f1-ae73-e4fade41113c NCBIGene:10815 biolink:gene_associated_with_condition Orphanet:280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2309 infores:orphanet PMID:26239400 Assessed uuid:97657096-d8a7-11f1-ae73-e4fade41113c NCBIGene:54872 biolink:gene_associated_with_condition Orphanet:280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:25985 infores:orphanet PMID:26239400 Assessed uuid:97657097-d8a7-11f1-ae73-e4fade41113c NCBIGene:1487 biolink:gene_associated_with_condition Orphanet:280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2494 infores:orphanet PMID:26239400 Assessed uuid:97657098-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:15 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3690 infores:orphanet PMID:23149434 Assessed gain_of_function_variant_form uuid:97657099-d8a7-11f1-ae73-e4fade41113c NCBIGene:7274 biolink:causes Orphanet:96 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12404 infores:orphanet Assessed uuid:9765709a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1822 biolink:causes Orphanet:101 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3033 infores:orphanet Assessed uuid:9765709b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3561 biolink:causes Orphanet:276 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6010 infores:orphanet Assessed uuid:9765709c-d8a7-11f1-ae73-e4fade41113c NCBIGene:367 biolink:causes Orphanet:481 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:644 infores:orphanet Assessed uuid:9765709d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5009 biolink:causes Orphanet:664 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8512 infores:orphanet PMID:24006547 Assessed uuid:9765709e-d8a7-11f1-ae73-e4fade41113c NCBIGene:875 biolink:causes Orphanet:394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1550 infores:orphanet PMID:20301697 Assessed uuid:9765709f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3643 biolink:causes Orphanet:508 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6091 infores:orphanet PMID:12023989 Assessed uuid:976570a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3040 biolink:causes Orphanet:163596 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4824 infores:orphanet Assessed uuid:976570a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3039 biolink:causes Orphanet:163596 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4823 infores:orphanet Assessed uuid:976570a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3690 infores:orphanet PMID:20301650|PMID:23149434 Assessed gain_of_function_variant_form uuid:976570a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4508 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7414 infores:orphanet PMID:20301353 Assessed uuid:976570a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:4512 biolink:gene_associated_with_condition Orphanet:104 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7419 infores:orphanet PMID:1322638 Not yet assessed uuid:976570a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4514 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7422 infores:orphanet PMID:20301353 Assessed uuid:976570a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4519 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7427 infores:orphanet PMID:20301353 Assessed uuid:976570a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4535 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7455 infores:orphanet PMID:20301353 Assessed uuid:976570a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4536 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7456 infores:orphanet PMID:20301353 Assessed uuid:976570a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4538 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7459 infores:orphanet PMID:20301353 Assessed uuid:976570aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:4539 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7460 infores:orphanet PMID:20301353 Assessed uuid:976570ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:4540 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7461 infores:orphanet PMID:20301353 Assessed uuid:976570ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:4541 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7462 infores:orphanet PMID:20301353 Assessed uuid:976570ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:4720 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7708 infores:orphanet PMID:28031252 Assessed uuid:976570ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:84277 biolink:causes Orphanet:104 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16410 infores:orphanet PMID:33465056 Assessed loss_of_function_variant_form uuid:976570af-d8a7-11f1-ae73-e4fade41113c NCBIGene:3897 biolink:causes Orphanet:2182 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6470 infores:orphanet PMID:20301657 Assessed uuid:976570b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:causes Orphanet:163634 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5383 infores:orphanet PMID:22057234|PMID:22057236 Assessed uuid:976570b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3417 biolink:causes Orphanet:163634 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5382 infores:orphanet PMID:22057234|PMID:22057236 Assessed uuid:976570b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:57094 biolink:causes Orphanet:163717 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:17245 infores:orphanet PMID:21922598 Assessed gain_of_function_variant_form uuid:976570b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4693 biolink:causes Orphanet:649 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7678 infores:orphanet PMID:9228243|PMID:20301506 Assessed loss_of_function_variant_form uuid:976570b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:57465 biolink:causes Orphanet:163727 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29203 infores:orphanet PMID:31257402 Assessed uuid:976570b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:27286 biolink:causes Orphanet:163721 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30668 infores:orphanet PMID:16497722 Assessed uuid:976570b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2903 biolink:causes Orphanet:163721 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4585 infores:orphanet PMID:23933818 Assessed uuid:976570b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6342 biolink:causes Orphanet:163684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10606 infores:orphanet PMID:16685654 Assessed uuid:976570b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1536 biolink:causes Orphanet:379 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2578 infores:orphanet PMID:22876374 Assessed uuid:976570b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:653361 biolink:causes Orphanet:379 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7660 infores:orphanet PMID:22876374 Assessed uuid:976570ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:4688 biolink:causes Orphanet:379 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7661 infores:orphanet PMID:22876374 Assessed uuid:976570bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1535 biolink:causes Orphanet:379 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2577 infores:orphanet PMID:22876374 Assessed uuid:976570bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:4689 biolink:causes Orphanet:379 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7662 infores:orphanet PMID:22876374 Assessed uuid:976570bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:79415 biolink:causes Orphanet:379 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28672 infores:orphanet PMID:30361506 Assessed loss_of_function_variant_form uuid:976570be-d8a7-11f1-ae73-e4fade41113c NCBIGene:26047 biolink:causes Orphanet:163681 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13830 infores:orphanet PMID:16571880 Assessed uuid:976570bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5956 biolink:causes Orphanet:16 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9936 infores:orphanet PMID:15069569 Assessed uuid:976570c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2652 biolink:causes Orphanet:16 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4206 infores:orphanet PMID:15069569 Assessed uuid:976570c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4508 biolink:causes Orphanet:644 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7414 infores:orphanet PMID:20301352 Assessed uuid:976570c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7030 biolink:gene_associated_with_condition Orphanet:163699 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11752 infores:orphanet PMID:21279521 Assessed uuid:976570c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:79058 biolink:gene_associated_with_condition Orphanet:163699 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:13825 infores:orphanet PMID:21279521 Assessed uuid:976570c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:950 biolink:causes Orphanet:163696 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1665 infores:orphanet PMID:26677510 Assessed loss_of_function_variant_form uuid:976570c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4771 biolink:causes Orphanet:637 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7773 infores:orphanet PMID:20301380 Assessed uuid:976570c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1896 biolink:causes Orphanet:181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3157 infores:orphanet Assessed uuid:976570c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:60401 biolink:causes Orphanet:181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17756 infores:orphanet PMID:22889853 Assessed uuid:976570c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6519 biolink:gene_associated_with_condition Orphanet:163693 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11025 infores:orphanet PMID:11524703 Assessed uuid:976570c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:9581 biolink:gene_associated_with_condition Orphanet:163693 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:30228 infores:orphanet PMID:11524703 Assessed uuid:976570ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:79823 biolink:gene_associated_with_condition Orphanet:163693 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:26276 infores:orphanet PMID:11524703 Assessed uuid:976570cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5495 biolink:gene_associated_with_condition Orphanet:163693 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9276 infores:orphanet PMID:11524703 Assessed uuid:976570cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6519 biolink:gene_associated_with_condition Orphanet:163690 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11025 infores:orphanet PMID:16385448 Assessed uuid:976570cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:9581 biolink:gene_associated_with_condition Orphanet:163690 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:30228 infores:orphanet PMID:16385448 Assessed uuid:976570ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:90 biolink:causes Orphanet:337 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:171 infores:orphanet PMID:23011467 Assessed gain_of_function_variant_form uuid:976570cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:causes Orphanet:377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9585 infores:orphanet PMID:20301330|PMID:19032739 Assessed loss_of_function_variant_form uuid:976570d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:8643 biolink:causes Orphanet:377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9586 infores:orphanet PMID:18285427|PMID:23479190 Assessed uuid:976570d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:51684 biolink:causes Orphanet:377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16466 infores:orphanet PMID:25403219|PMID:19533801|PMID:22829011 Assessed loss_of_function_variant_form uuid:976570d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5781 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9644 infores:orphanet PMID:19760651 Assessed uuid:976570d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1097 infores:orphanet PMID:19206169 Assessed uuid:976570d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6654 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11187 infores:orphanet PMID:17143285 Assessed gain_of_function_variant_form uuid:976570d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6407 infores:orphanet PMID:16773572 Assessed uuid:976570d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5894 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9829 infores:orphanet PMID:17603483 Assessed gain_of_function_variant_form uuid:976570d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4893 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7989 infores:orphanet PMID:19966803 Assessed uuid:976570d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:867 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1541 infores:orphanet PMID:25952305 Assessed uuid:976570d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6016 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10023 infores:orphanet PMID:23791108 Assessed gain_of_function_variant_form uuid:976570da-d8a7-11f1-ae73-e4fade41113c NCBIGene:8216 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6742 infores:orphanet PMID:25795793 Assessed uuid:976570db-d8a7-11f1-ae73-e4fade41113c NCBIGene:5922 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9872 infores:orphanet PMID:25049390 Assessed loss_of_function_variant_form uuid:976570dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6655 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11188 infores:orphanet PMID:25795793 Assessed uuid:976570dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6237 biolink:gene_associated_with_condition Orphanet:648 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10447 infores:orphanet PMID:24705357 Not yet assessed uuid:976570de-d8a7-11f1-ae73-e4fade41113c NCBIGene:22808 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7227 infores:orphanet PMID:28289718 Assessed uuid:976570df-d8a7-11f1-ae73-e4fade41113c NCBIGene:22800 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17271 infores:orphanet PMID:31130285 Assessed uuid:976570e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:200734 biolink:causes Orphanet:648 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17722 infores:orphanet PMID:34626534 Assessed uuid:976570e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:9037 biolink:gene_associated_with_condition Orphanet:281 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10736 infores:orphanet Not yet assessed uuid:976570e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1501 biolink:gene_associated_with_condition Orphanet:281 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2516 infores:orphanet Assessed uuid:976570e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3293 biolink:causes Orphanet:752 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5212 infores:orphanet Assessed loss_of_function_variant_form uuid:976570e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3251 biolink:causes Orphanet:510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5157 infores:orphanet Assessed loss_of_function_variant_form uuid:976570e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:gene_associated_with_condition Orphanet:524 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1787 infores:orphanet PMID:28592523|PMID:29263814 Not yet assessed uuid:976570e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:11200 biolink:gene_associated_with_condition Orphanet:524 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16627 infores:orphanet PMID:11719428|PMID:21562711|PMID:20301488 Not yet assessed uuid:976570e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:524 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:20301488 Assessed uuid:976570e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4193 biolink:contributes_to Orphanet:524 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:6973 infores:orphanet PMID:23884452 Assessed uuid:976570e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:5376 biolink:causes Orphanet:640 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9118 infores:orphanet Assessed uuid:976570ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:5376 biolink:gene_associated_with_condition Orphanet:640 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9118 infores:orphanet Assessed uuid:976570eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5265 biolink:causes Orphanet:60 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8941 infores:orphanet PMID:20301692 Assessed uuid:976570ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:6591 biolink:causes Orphanet:895 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11094 infores:orphanet PMID:12444107 Assessed uuid:976570ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:6663 biolink:causes Orphanet:895 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11190 infores:orphanet PMID:21898658|PMID:17999358 Assessed uuid:976570ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:7299 biolink:contributes_to Orphanet:895 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:12442 infores:orphanet PMID:9158138 Assessed uuid:976570ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:1910 biolink:causes Orphanet:895 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3180 infores:orphanet PMID:28236341 Assessed loss_of_function_variant_form uuid:976570f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4286 biolink:causes Orphanet:895 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7105 infores:orphanet PMID:23098757 Assessed uuid:976570f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4254 biolink:causes Orphanet:895 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6343 infores:orphanet PMID:26522471 Assessed uuid:976570f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5077 biolink:causes Orphanet:896 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8617 infores:orphanet PMID:8447316|PMID:7726174|PMID:12949970 Assessed uuid:976570f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6299 biolink:causes Orphanet:857 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10524 infores:orphanet PMID:20301618 Assessed loss_of_function_variant_form uuid:976570f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:51339 biolink:causes Orphanet:857 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17748 infores:orphanet PMID:28054444 Assessed uuid:976570f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5077 biolink:causes Orphanet:894 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8617 infores:orphanet PMID:20301703 Assessed uuid:976570f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6329 biolink:causes Orphanet:682 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10591 infores:orphanet PMID:20301669|PMID:17395131 Assessed gain_of_function_variant_form uuid:976570f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3339 biolink:causes Orphanet:800 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5273 infores:orphanet PMID:19367640 Assessed loss_of_function_variant_form uuid:976570f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1836 biolink:causes Orphanet:628 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10994 infores:orphanet PMID:20301524 Assessed loss_of_function_variant_form uuid:976570f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6329 biolink:causes Orphanet:681 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10591 infores:orphanet PMID:20301512 Assessed uuid:976570fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:779 biolink:causes Orphanet:681 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1397 infores:orphanet PMID:20301512 Assessed uuid:976570fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:10008 biolink:gene_associated_with_condition Orphanet:681 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6243 infores:orphanet PMID:14504341|PMID:15037713 Not yet assessed uuid:976570fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6495 biolink:causes Orphanet:107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10887 infores:orphanet PMID:20301554 Assessed uuid:976570fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2138 biolink:causes Orphanet:107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3519 infores:orphanet PMID:20301554 Assessed uuid:976570fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:147912 biolink:causes Orphanet:107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10891 infores:orphanet PMID:20301554 Assessed uuid:976570ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:94 biolink:causes Orphanet:774 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:175 infores:orphanet PMID:20301525 Assessed uuid:97657100-d8a7-11f1-ae73-e4fade41113c NCBIGene:4089 biolink:causes Orphanet:774 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6770 infores:orphanet PMID:20301525 Assessed uuid:97657101-d8a7-11f1-ae73-e4fade41113c NCBIGene:2022 biolink:causes Orphanet:774 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3349 infores:orphanet PMID:20301525 Assessed uuid:97657102-d8a7-11f1-ae73-e4fade41113c NCBIGene:2658 biolink:causes Orphanet:774 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4217 infores:orphanet PMID:23972370 Assessed uuid:97657103-d8a7-11f1-ae73-e4fade41113c NCBIGene:7291 biolink:causes Orphanet:794 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12428 infores:orphanet PMID:9585583 Assessed loss_of_function_variant_form uuid:97657104-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:gene_associated_with_condition Orphanet:794 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3690 infores:orphanet Not yet assessed uuid:97657105-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:gene_associated_with_condition Orphanet:794 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3689 infores:orphanet PMID:9585583|PMID:10425034 Not yet assessed uuid:97657106-d8a7-11f1-ae73-e4fade41113c NCBIGene:6794 biolink:causes Orphanet:2869 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11389 infores:orphanet PMID:9837816|PMID:20581245|PMID:20301443 Assessed uuid:97657107-d8a7-11f1-ae73-e4fade41113c NCBIGene:627 biolink:gene_associated_with_condition Orphanet:893 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:1033 infores:orphanet PMID:23266638|PMID:18753648 Assessed uuid:97657108-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:gene_associated_with_condition Orphanet:893 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12796 infores:orphanet PMID:20301534|PMID:23266638 Assessed uuid:97657109-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:gene_associated_with_condition Orphanet:893 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:8620 infores:orphanet PMID:20301534|PMID:23266638 Assessed uuid:9765710a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5828 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9717 infores:orphanet PMID:20301621 Assessed uuid:9765710b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5189 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8850 infores:orphanet PMID:20301621 Assessed uuid:9765710c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5192 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8851 infores:orphanet PMID:20301621 Assessed uuid:9765710d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5193 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8854 infores:orphanet PMID:20301621 Assessed uuid:9765710e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5194 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8855 infores:orphanet PMID:20301621 Assessed uuid:9765710f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5195 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8856 infores:orphanet PMID:20301621 Assessed uuid:97657110-d8a7-11f1-ae73-e4fade41113c NCBIGene:9409 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8857 infores:orphanet PMID:20301621 Assessed uuid:97657111-d8a7-11f1-ae73-e4fade41113c NCBIGene:5824 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9713 infores:orphanet PMID:20301621 Assessed uuid:97657112-d8a7-11f1-ae73-e4fade41113c NCBIGene:55670 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22965 infores:orphanet PMID:20301621 Assessed uuid:97657113-d8a7-11f1-ae73-e4fade41113c NCBIGene:8504 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8858 infores:orphanet PMID:20301621 Assessed uuid:97657114-d8a7-11f1-ae73-e4fade41113c NCBIGene:5830 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9719 infores:orphanet PMID:20301621 Assessed uuid:97657115-d8a7-11f1-ae73-e4fade41113c NCBIGene:5190 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8859 infores:orphanet PMID:20301621 Assessed uuid:97657116-d8a7-11f1-ae73-e4fade41113c NCBIGene:8799 biolink:causes Orphanet:912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8853 infores:orphanet PMID:22581968 Assessed uuid:97657117-d8a7-11f1-ae73-e4fade41113c NCBIGene:1186 biolink:causes Orphanet:53 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2025 infores:orphanet PMID:11741829|PMID:20301306 Assessed uuid:97657118-d8a7-11f1-ae73-e4fade41113c NCBIGene:4547 biolink:causes Orphanet:14 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7467 infores:orphanet PMID:22378282|PMID:24288038|PMID:23556456 Assessed uuid:97657119-d8a7-11f1-ae73-e4fade41113c NCBIGene:1130 biolink:causes Orphanet:167 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1968 infores:orphanet PMID:20368792 Assessed loss_of_function_variant_form uuid:9765711a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:207 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3689 infores:orphanet PMID:20301628 Assessed gain_of_function_variant_form uuid:9765711b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:201 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9588 infores:orphanet Assessed loss_of_function_variant_form uuid:9765711c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6197 biolink:causes Orphanet:192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10432 infores:orphanet PMID:20301520 Assessed uuid:9765711d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2157 biolink:causes Orphanet:169808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3546 infores:orphanet PMID:20301578 Assessed uuid:9765711e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2157 biolink:causes Orphanet:169802 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3546 infores:orphanet PMID:20301578 Assessed uuid:9765711f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2157 biolink:causes Orphanet:169805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3546 infores:orphanet PMID:20301578 Assessed uuid:97657120-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:562 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4392 infores:orphanet PMID:1594625|PMID:1944469 Assessed uuid:97657121-d8a7-11f1-ae73-e4fade41113c NCBIGene:538 biolink:causes Orphanet:565 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:869 infores:orphanet PMID:20301586 Assessed loss_of_function_variant_form uuid:97657122-d8a7-11f1-ae73-e4fade41113c NCBIGene:57560 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29262 infores:orphanet PMID:17468754 Assessed uuid:97657123-d8a7-11f1-ae73-e4fade41113c NCBIGene:79659 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2962 infores:orphanet PMID:23456818|PMID:23339108 Assessed uuid:97657124-d8a7-11f1-ae73-e4fade41113c NCBIGene:79809 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25660 infores:orphanet PMID:21258341|PMID:22791528 Assessed uuid:97657125-d8a7-11f1-ae73-e4fade41113c NCBIGene:57728 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18340 infores:orphanet PMID:22019273|PMID:22791528 Assessed uuid:97657126-d8a7-11f1-ae73-e4fade41113c NCBIGene:9742 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29077 infores:orphanet PMID:22503633|PMID:23418020|PMID:24009529 Assessed uuid:97657127-d8a7-11f1-ae73-e4fade41113c NCBIGene:55112 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21862 infores:orphanet PMID:23910462 Assessed uuid:97657128-d8a7-11f1-ae73-e4fade41113c NCBIGene:26160 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30391 infores:orphanet PMID:24140113 Assessed uuid:97657129-d8a7-11f1-ae73-e4fade41113c NCBIGene:89891 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28296 infores:orphanet PMID:24183451 Assessed uuid:9765712a-d8a7-11f1-ae73-e4fade41113c NCBIGene:153241 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26690 infores:orphanet PMID:25361962 Assessed uuid:9765712b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51626 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24595 infores:orphanet PMID:26077881 Assessed uuid:9765712c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9851 biolink:causes Orphanet:474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29110 infores:orphanet PMID:29138412 Assessed uuid:9765712d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5551 biolink:causes Orphanet:540 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9360 infores:orphanet PMID:11179007 Assessed uuid:9765712e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8676 biolink:causes Orphanet:540 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11429 infores:orphanet PMID:11179007 Assessed uuid:9765712f-d8a7-11f1-ae73-e4fade41113c NCBIGene:201294 biolink:causes Orphanet:540 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23147 infores:orphanet PMID:11179007 Assessed uuid:97657130-d8a7-11f1-ae73-e4fade41113c NCBIGene:6813 biolink:causes Orphanet:540 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11445 infores:orphanet PMID:11179007 Assessed uuid:97657131-d8a7-11f1-ae73-e4fade41113c NCBIGene:54880 biolink:causes Orphanet:568 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20893 infores:orphanet PMID:20301694|PMID:15004558 Assessed uuid:97657132-d8a7-11f1-ae73-e4fade41113c NCBIGene:8260 biolink:causes Orphanet:568 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18704 infores:orphanet PMID:24431331 Assessed uuid:97657133-d8a7-11f1-ae73-e4fade41113c NCBIGene:57096 biolink:gene_associated_with_condition Orphanet:564 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:13436 infores:orphanet Not yet assessed uuid:97657134-d8a7-11f1-ae73-e4fade41113c NCBIGene:80184 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29021 infores:orphanet PMID:21110233|PMID:19466712|PMID:17564974 Assessed uuid:97657135-d8a7-11f1-ae73-e4fade41113c NCBIGene:91147 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28396 infores:orphanet PMID:21110233|PMID:19466712|PMID:17389183 Assessed uuid:97657136-d8a7-11f1-ae73-e4fade41113c NCBIGene:54903 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7121 infores:orphanet PMID:21110233|PMID:19466712|PMID:17389183 Assessed uuid:97657137-d8a7-11f1-ae73-e4fade41113c NCBIGene:23322 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29168 infores:orphanet PMID:21110233|PMID:17558409 Assessed uuid:97657138-d8a7-11f1-ae73-e4fade41113c NCBIGene:57545 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29253 infores:orphanet PMID:21110233|PMID:19466712 Assessed uuid:97657139-d8a7-11f1-ae73-e4fade41113c NCBIGene:51259 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25018 infores:orphanet PMID:21110233|PMID:20512146 Assessed uuid:9765713a-d8a7-11f1-ae73-e4fade41113c NCBIGene:79867 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25774 infores:orphanet PMID:21462283 Assessed uuid:9765713b-d8a7-11f1-ae73-e4fade41113c NCBIGene:27077 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24123 infores:orphanet PMID:21493627 Assessed uuid:9765713c-d8a7-11f1-ae73-e4fade41113c NCBIGene:79600 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26113 infores:orphanet PMID:28631893 Assessed loss_of_function_variant_form uuid:9765713d-d8a7-11f1-ae73-e4fade41113c NCBIGene:80776 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28636 infores:orphanet PMID:21763481 Assessed uuid:9765713e-d8a7-11f1-ae73-e4fade41113c NCBIGene:65062 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14432 infores:orphanet PMID:26729329 Assessed loss_of_function_variant_form uuid:9765713f-d8a7-11f1-ae73-e4fade41113c NCBIGene:26123 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24519 infores:orphanet PMID:22883145 Assessed loss_of_function_variant_form uuid:97657140-d8a7-11f1-ae73-e4fade41113c NCBIGene:79583 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:37234 infores:orphanet PMID:23349226 Assessed loss_of_function_variant_form uuid:97657141-d8a7-11f1-ae73-e4fade41113c NCBIGene:79848 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26193 infores:orphanet Assessed uuid:97657142-d8a7-11f1-ae73-e4fade41113c NCBIGene:84314 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28128 infores:orphanet PMID:26123494 Assessed loss_of_function_variant_form uuid:97657143-d8a7-11f1-ae73-e4fade41113c NCBIGene:79770 biolink:causes Orphanet:564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20652 infores:orphanet PMID:27894351 Assessed loss_of_function_variant_form uuid:97657144-d8a7-11f1-ae73-e4fade41113c NCBIGene:2121 biolink:causes Orphanet:289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3497 infores:orphanet PMID:23220543|PMID:22791528|PMID:19744229 Assessed uuid:97657145-d8a7-11f1-ae73-e4fade41113c NCBIGene:132884 biolink:causes Orphanet:289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19747 infores:orphanet PMID:23220543|PMID:22791528|PMID:12571802 Assessed uuid:97657146-d8a7-11f1-ae73-e4fade41113c NCBIGene:5566 biolink:causes Orphanet:289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9380 infores:orphanet PMID:33058759 Assessed uuid:97657147-d8a7-11f1-ae73-e4fade41113c NCBIGene:51626 biolink:causes Orphanet:289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24595 infores:orphanet PMID:26130459 Assessed uuid:97657148-d8a7-11f1-ae73-e4fade41113c NCBIGene:2735 biolink:causes Orphanet:289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4317 infores:orphanet PMID:28973407 Assessed loss_of_function_variant_form uuid:97657149-d8a7-11f1-ae73-e4fade41113c NCBIGene:5567 biolink:causes Orphanet:289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9381 infores:orphanet PMID:33058759 Assessed uuid:9765714a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3908 biolink:causes Orphanet:258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6482 infores:orphanet PMID:24223650|PMID:22675738 Assessed uuid:9765714b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8287 biolink:gene_associated_with_condition Orphanet:1646 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12633 infores:orphanet PMID:20301513|PMID:10581029|PMID:22537385|PMID:20671934 Assessed uuid:9765714c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1617 biolink:gene_associated_with_condition Orphanet:1646 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2682 infores:orphanet PMID:20671934|PMID:11870237 Not yet assessed uuid:9765714d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57055 biolink:gene_associated_with_condition Orphanet:1646 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:15964 infores:orphanet PMID:20671934|PMID:11870237 Not yet assessed uuid:9765714e-d8a7-11f1-ae73-e4fade41113c NCBIGene:57054 biolink:gene_associated_with_condition Orphanet:1646 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:15965 infores:orphanet PMID:20671934|PMID:14639527 Not yet assessed uuid:9765714f-d8a7-11f1-ae73-e4fade41113c NCBIGene:57135 biolink:gene_associated_with_condition Orphanet:1646 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:15966 infores:orphanet PMID:20671934|PMID:14639527 Not yet assessed uuid:97657150-d8a7-11f1-ae73-e4fade41113c NCBIGene:8653 biolink:gene_associated_with_condition Orphanet:1646 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2699 infores:orphanet PMID:22537385|PMID:10767340|PMID:20671934|PMID:20301513 Not yet assessed uuid:97657151-d8a7-11f1-ae73-e4fade41113c NCBIGene:5940 biolink:gene_associated_with_condition Orphanet:1646 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9912 infores:orphanet PMID:12525536|PMID:20671934 Not yet assessed uuid:97657152-d8a7-11f1-ae73-e4fade41113c NCBIGene:7258 biolink:contributes_to Orphanet:1646 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:12381 infores:orphanet PMID:23307928 Assessed uuid:97657153-d8a7-11f1-ae73-e4fade41113c NCBIGene:966 biolink:causes Orphanet:169464 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1689 infores:orphanet PMID:23149847 Assessed uuid:97657154-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:87 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3689 infores:orphanet PMID:20301628|PMID:23593218|PMID:15282208 Assessed gain_of_function_variant_form uuid:97657155-d8a7-11f1-ae73-e4fade41113c NCBIGene:773 biolink:causes Orphanet:97 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1388 infores:orphanet PMID:20301674 Assessed loss_of_function_variant_form uuid:97657156-d8a7-11f1-ae73-e4fade41113c NCBIGene:1675 biolink:causes Orphanet:169467 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2771 infores:orphanet PMID:16527897 Assessed uuid:97657157-d8a7-11f1-ae73-e4fade41113c NCBIGene:26154 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14637 infores:orphanet PMID:22739337|PMID:20301593 Assessed uuid:97657158-d8a7-11f1-ae73-e4fade41113c NCBIGene:242 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:430 infores:orphanet PMID:22739337|PMID:20301593 Assessed uuid:97657159-d8a7-11f1-ae73-e4fade41113c NCBIGene:59344 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13743 infores:orphanet PMID:25423909|PMID:21668430|PMID:19131948 Assessed uuid:9765715a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7051 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11777 infores:orphanet PMID:22739337|PMID:20301593 Assessed uuid:9765715b-d8a7-11f1-ae73-e4fade41113c NCBIGene:126410 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26820 infores:orphanet PMID:22739337|PMID:20301593 Assessed uuid:9765715c-d8a7-11f1-ae73-e4fade41113c NCBIGene:348938 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28018 infores:orphanet PMID:22739337|PMID:20301593 Assessed uuid:9765715d-d8a7-11f1-ae73-e4fade41113c NCBIGene:643418 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23452 infores:orphanet PMID:21439540 Assessed uuid:9765715e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6820 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11459 infores:orphanet PMID:28575648 Assessed loss_of_function_variant_form uuid:9765715f-d8a7-11f1-ae73-e4fade41113c NCBIGene:121214 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29958 infores:orphanet PMID:28906551|PMID:28369735 Assessed uuid:97676d0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:151516 biolink:causes Orphanet:313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26321 infores:orphanet PMID:32516568 Assessed uuid:97676d0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2158 biolink:causes Orphanet:169799 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3551 infores:orphanet Assessed uuid:97676d0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2158 biolink:causes Orphanet:169796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3551 infores:orphanet Assessed uuid:97676d0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2158 biolink:causes Orphanet:169793 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3551 infores:orphanet Assessed uuid:97676d10-d8a7-11f1-ae73-e4fade41113c NCBIGene:8943 biolink:gene_associated_with_condition Orphanet:1000 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:568 infores:orphanet Not yet assessed uuid:97676d11-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:171430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet Assessed uuid:97676d12-d8a7-11f1-ae73-e4fade41113c NCBIGene:4703 biolink:causes Orphanet:171430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7720 infores:orphanet Assessed uuid:97676d13-d8a7-11f1-ae73-e4fade41113c NCBIGene:131377 biolink:causes Orphanet:171430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30372 infores:orphanet PMID:23746549 Assessed loss_of_function_variant_form uuid:97676d14-d8a7-11f1-ae73-e4fade41113c NCBIGene:10324 biolink:causes Orphanet:171430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16905 infores:orphanet PMID:24268659 Assessed loss_of_function_variant_form uuid:97676d15-d8a7-11f1-ae73-e4fade41113c NCBIGene:56203 biolink:causes Orphanet:171430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6649 infores:orphanet PMID:25250574 Assessed loss_of_function_variant_form uuid:97676d16-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:171433 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet Assessed uuid:97676d17-d8a7-11f1-ae73-e4fade41113c NCBIGene:7170 biolink:causes Orphanet:171433 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12012 infores:orphanet PMID:18382475 Assessed uuid:97676d18-d8a7-11f1-ae73-e4fade41113c NCBIGene:4703 biolink:causes Orphanet:171433 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7720 infores:orphanet Assessed uuid:97676d19-d8a7-11f1-ae73-e4fade41113c NCBIGene:10324 biolink:causes Orphanet:171433 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16905 infores:orphanet PMID:24268659 Assessed loss_of_function_variant_form uuid:97676d1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:171436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet Assessed uuid:97676d1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1073 biolink:causes Orphanet:171436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1875 infores:orphanet PMID:17160903 Assessed uuid:97676d1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7169 biolink:causes Orphanet:171436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12011 infores:orphanet Assessed uuid:97676d1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4703 biolink:causes Orphanet:171436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7720 infores:orphanet Assessed uuid:97676d1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10324 biolink:causes Orphanet:171436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16905 infores:orphanet PMID:24268659 Assessed loss_of_function_variant_form uuid:97676d1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:56203 biolink:causes Orphanet:171436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6649 infores:orphanet PMID:25250574 Assessed loss_of_function_variant_form uuid:97676d20-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:171439 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet Assessed uuid:97676d21-d8a7-11f1-ae73-e4fade41113c NCBIGene:7169 biolink:causes Orphanet:171439 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12011 infores:orphanet PMID:23378224|PMID:23413262 Assessed uuid:97676d22-d8a7-11f1-ae73-e4fade41113c NCBIGene:7170 biolink:causes Orphanet:171439 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12012 infores:orphanet PMID:7704029 Assessed uuid:97676d23-d8a7-11f1-ae73-e4fade41113c NCBIGene:4703 biolink:causes Orphanet:171439 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7720 infores:orphanet Assessed uuid:97676d24-d8a7-11f1-ae73-e4fade41113c NCBIGene:390594 biolink:causes Orphanet:171439 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:37227 infores:orphanet PMID:20301465|PMID:21104864 Assessed uuid:97676d25-d8a7-11f1-ae73-e4fade41113c NCBIGene:84665 biolink:causes Orphanet:171439 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23246 infores:orphanet PMID:28017374 Assessed loss_of_function_variant_form uuid:97676d26-d8a7-11f1-ae73-e4fade41113c NCBIGene:10324 biolink:causes Orphanet:171439 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16905 infores:orphanet PMID:24268659 Assessed loss_of_function_variant_form uuid:97676d27-d8a7-11f1-ae73-e4fade41113c NCBIGene:2318 biolink:causes Orphanet:171445 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3756 infores:orphanet PMID:15929027 Assessed uuid:97676d28-d8a7-11f1-ae73-e4fade41113c NCBIGene:5352 biolink:causes Orphanet:2771 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9082 infores:orphanet PMID:15523624|PMID:22689593 Assessed loss_of_function_variant_form uuid:97676d29-d8a7-11f1-ae73-e4fade41113c NCBIGene:60681 biolink:causes Orphanet:2771 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18169 infores:orphanet PMID:22085994|PMID:22949511|PMID:22689593 Assessed loss_of_function_variant_form uuid:97676d2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3839 biolink:causes Orphanet:171612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6396 infores:orphanet PMID:34564892 Assessed uuid:97676d2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4566 biolink:causes Orphanet:1349 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7489 infores:orphanet PMID:8651277 Assessed uuid:97676d2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:79152 biolink:causes Orphanet:171629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21197 infores:orphanet PMID:20104589 Assessed uuid:97676d2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6949 biolink:causes Orphanet:861 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11654 infores:orphanet PMID:20301704 Assessed uuid:97676d2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:51082 biolink:causes Orphanet:861 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20422 infores:orphanet PMID:20301704 Assessed uuid:97676d2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9533 biolink:causes Orphanet:861 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20194 infores:orphanet PMID:20301704 Assessed uuid:97676d30-d8a7-11f1-ae73-e4fade41113c NCBIGene:84172 biolink:causes Orphanet:861 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20454 infores:orphanet PMID:25790162 Assessed uuid:97676d31-d8a7-11f1-ae73-e4fade41113c NCBIGene:1476 biolink:causes Orphanet:308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2482 infores:orphanet PMID:9012407|PMID:20301321 Assessed uuid:97676d32-d8a7-11f1-ae73-e4fade41113c NCBIGene:950 biolink:causes Orphanet:308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1665 infores:orphanet PMID:19847901 Assessed uuid:97676d33-d8a7-11f1-ae73-e4fade41113c NCBIGene:144165 biolink:causes Orphanet:308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17019 infores:orphanet PMID:18976727 Assessed uuid:97676d34-d8a7-11f1-ae73-e4fade41113c NCBIGene:8243 biolink:causes Orphanet:199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11111 infores:orphanet PMID:20301283 Assessed uuid:97676d35-d8a7-11f1-ae73-e4fade41113c NCBIGene:25836 biolink:causes Orphanet:199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28862 infores:orphanet PMID:20301283 Assessed uuid:97676d36-d8a7-11f1-ae73-e4fade41113c NCBIGene:9126 biolink:causes Orphanet:199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2468 infores:orphanet PMID:20301283 Assessed uuid:97676d37-d8a7-11f1-ae73-e4fade41113c NCBIGene:55869 biolink:causes Orphanet:199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13315 infores:orphanet PMID:22885700 Assessed loss_of_function_variant_form uuid:97676d38-d8a7-11f1-ae73-e4fade41113c NCBIGene:5885 biolink:causes Orphanet:199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9811 infores:orphanet PMID:22633399 Assessed uuid:97676d39-d8a7-11f1-ae73-e4fade41113c NCBIGene:23476 biolink:causes Orphanet:199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13575 infores:orphanet PMID:29379197 Assessed uuid:97676d3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23383 biolink:causes Orphanet:199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29140 infores:orphanet PMID:32433956|PMID:37962004|PMID:41912533 Assessed uuid:97676d3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9244 biolink:causes Orphanet:930 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2364 infores:orphanet PMID:27976805 Assessed uuid:97676d3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3117 biolink:contributes_to Orphanet:930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4942 infores:orphanet PMID:24997987 Assessed uuid:97676d3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3119 biolink:contributes_to Orphanet:930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4944 infores:orphanet PMID:24997987 Assessed uuid:97676d3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4842 biolink:causes Orphanet:930 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7872 infores:orphanet PMID:25479138 Assessed uuid:97676d3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6899 biolink:gene_associated_with_condition Orphanet:1727 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11592 infores:orphanet PMID:19254783 Assessed uuid:97676d40-d8a7-11f1-ae73-e4fade41113c NCBIGene:79840 biolink:causes Orphanet:169079 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25737 infores:orphanet Assessed uuid:97676d41-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:gene_associated_with_condition Orphanet:168984 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:29446767|PMID:29766551 Not yet assessed uuid:97676d42-d8a7-11f1-ae73-e4fade41113c NCBIGene:3559 biolink:causes Orphanet:169100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6008 infores:orphanet PMID:9096364 Assessed uuid:97676d43-d8a7-11f1-ae73-e4fade41113c NCBIGene:8456 biolink:causes Orphanet:169095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12765 infores:orphanet PMID:10206641 Assessed uuid:97676d44-d8a7-11f1-ae73-e4fade41113c NCBIGene:917 biolink:causes Orphanet:169082 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1675 infores:orphanet Assessed uuid:97676d45-d8a7-11f1-ae73-e4fade41113c NCBIGene:925 biolink:causes Orphanet:169085 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1706 infores:orphanet PMID:11435463 Assessed uuid:97676d46-d8a7-11f1-ae73-e4fade41113c NCBIGene:672 biolink:contributes_to Orphanet:168829 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1100 infores:orphanet PMID:22006311 Assessed uuid:97676d47-d8a7-11f1-ae73-e4fade41113c NCBIGene:6716 biolink:causes Orphanet:753 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11285 infores:orphanet PMID:8723114|PMID:9497950 Assessed loss_of_function_variant_form uuid:97676d48-d8a7-11f1-ae73-e4fade41113c NCBIGene:7167 biolink:causes Orphanet:868 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12009 infores:orphanet Assessed uuid:97676d49-d8a7-11f1-ae73-e4fade41113c NCBIGene:488 biolink:causes Orphanet:218 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:812 infores:orphanet PMID:22909361|PMID:23356892|PMID:23621824 Assessed uuid:97676d4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:168796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:18611980 Assessed uuid:97676d4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6598 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11103 infores:orphanet PMID:23556151 Assessed uuid:97676d4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6597 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11100 infores:orphanet PMID:23556151 Assessed uuid:97676d4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57492 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18040 infores:orphanet PMID:23556151 Assessed uuid:97676d4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8289 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11110 infores:orphanet PMID:23556151 Assessed uuid:97676d4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6605 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11109 infores:orphanet PMID:23556151|PMID:23906836|PMID:23929686 Assessed uuid:97676d50-d8a7-11f1-ae73-e4fade41113c NCBIGene:6664 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11191 infores:orphanet PMID:24886874 Assessed uuid:97676d51-d8a7-11f1-ae73-e4fade41113c NCBIGene:196528 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18037 infores:orphanet PMID:28124119 Assessed loss_of_function_variant_form uuid:97676d52-d8a7-11f1-ae73-e4fade41113c NCBIGene:6601 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11105 infores:orphanet PMID:30580808 Assessed uuid:97676d53-d8a7-11f1-ae73-e4fade41113c NCBIGene:6602 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11106 infores:orphanet PMID:30879640 Assessed uuid:97676d54-d8a7-11f1-ae73-e4fade41113c NCBIGene:5977 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9964 infores:orphanet PMID:29429572 Assessed uuid:97676d55-d8a7-11f1-ae73-e4fade41113c NCBIGene:6659 biolink:causes Orphanet:1465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11200 infores:orphanet PMID:30661722 Assessed uuid:97676d56-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:gene_associated_with_condition Orphanet:168953 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3688 infores:orphanet PMID:23489324 Assessed uuid:97676d57-d8a7-11f1-ae73-e4fade41113c NCBIGene:5159 biolink:gene_associated_with_condition Orphanet:168950 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8804 infores:orphanet PMID:23489324 Assessed uuid:97676d58-d8a7-11f1-ae73-e4fade41113c NCBIGene:5156 biolink:gene_associated_with_condition Orphanet:168947 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8803 infores:orphanet PMID:23489324 Assessed uuid:97676d59-d8a7-11f1-ae73-e4fade41113c NCBIGene:81608 biolink:gene_associated_with_condition Orphanet:168940 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:19124 infores:orphanet PMID:24764730|PMID:22523564|PMID:17988989|PMID:16502585 Assessed uuid:97676d5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5156 biolink:gene_associated_with_condition Orphanet:168940 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8803 infores:orphanet PMID:24764730|PMID:22523564|PMID:17988989|PMID:16502585 Assessed uuid:97676d5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4704 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7693 infores:orphanet PMID:41069424 Assessed uuid:97676d5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4535 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7455 infores:orphanet PMID:10775530|PMID:16492986 Assessed uuid:97676d5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4536 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7456 infores:orphanet PMID:12192017|PMID:15781840 Assessed uuid:97676d5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4537 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7458 infores:orphanet PMID:14705112 Assessed uuid:97676d5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:91942 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28086 infores:orphanet PMID:16200211 Assessed uuid:97676d60-d8a7-11f1-ae73-e4fade41113c NCBIGene:4719 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7707 infores:orphanet PMID:20382551|PMID:22644603 Assessed uuid:97676d61-d8a7-11f1-ae73-e4fade41113c NCBIGene:4720 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7708 infores:orphanet PMID:15576045|PMID:22644603 Assessed uuid:97676d62-d8a7-11f1-ae73-e4fade41113c NCBIGene:4722 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7710 infores:orphanet PMID:22499348 Assessed uuid:97676d63-d8a7-11f1-ae73-e4fade41113c NCBIGene:4724 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7711 infores:orphanet PMID:9463323|PMID:22644603 Assessed uuid:97676d64-d8a7-11f1-ae73-e4fade41113c NCBIGene:4726 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7713 infores:orphanet PMID:15372108|PMID:19259137|PMID:22644603 Assessed uuid:97676d65-d8a7-11f1-ae73-e4fade41113c NCBIGene:374291 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7714 infores:orphanet PMID:22644603 Assessed uuid:97676d66-d8a7-11f1-ae73-e4fade41113c NCBIGene:4728 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7715 infores:orphanet PMID:22499348|PMID:22644603 Assessed uuid:97676d67-d8a7-11f1-ae73-e4fade41113c NCBIGene:4723 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7716 infores:orphanet PMID:22644603 Assessed uuid:97676d68-d8a7-11f1-ae73-e4fade41113c NCBIGene:4729 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7717 infores:orphanet PMID:12754703|PMID:22644603|PMID:26008862 Assessed uuid:97676d69-d8a7-11f1-ae73-e4fade41113c NCBIGene:4694 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7683 infores:orphanet PMID:17262856|PMID:19185523|PMID:21596602|PMID:22644603 Assessed uuid:97676d6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:29078 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21034 infores:orphanet PMID:18179882|PMID:22644603 Assessed uuid:97676d6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79133 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15899 infores:orphanet PMID:18940309|PMID:22644603 Assessed uuid:97676d6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:126328 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20371 infores:orphanet PMID:18306244|PMID:22644603 Assessed uuid:97676d6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:25915 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29918 infores:orphanet PMID:19463981|PMID:22644603 Assessed uuid:97676d6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:80224 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20278 infores:orphanet PMID:20818383|PMID:22644603|PMID:23553477 Assessed uuid:97676d6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55572 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26927 infores:orphanet PMID:20858599 Assessed uuid:97676d70-d8a7-11f1-ae73-e4fade41113c NCBIGene:51103 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18828 infores:orphanet PMID:17557076 Assessed uuid:97676d71-d8a7-11f1-ae73-e4fade41113c NCBIGene:4715 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7704 infores:orphanet PMID:22200994 Assessed uuid:97676d72-d8a7-11f1-ae73-e4fade41113c NCBIGene:4709 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7698 infores:orphanet PMID:22277967|PMID:22499348 Assessed uuid:97676d73-d8a7-11f1-ae73-e4fade41113c NCBIGene:54539 biolink:gene_associated_with_condition Orphanet:2609 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:20372 infores:orphanet PMID:26741492 Not yet assessed uuid:97676d74-d8a7-11f1-ae73-e4fade41113c NCBIGene:55863 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30883 infores:orphanet PMID:27374773|PMID:27374774 Assessed loss_of_function_variant_form uuid:97676d75-d8a7-11f1-ae73-e4fade41113c NCBIGene:4700 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7690 infores:orphanet PMID:30245030 Assessed uuid:97676d76-d8a7-11f1-ae73-e4fade41113c NCBIGene:4716 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7696 infores:orphanet PMID:28040730 Assessed uuid:97676d77-d8a7-11f1-ae73-e4fade41113c NCBIGene:51300 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1321 infores:orphanet PMID:28604674 Assessed loss_of_function_variant_form uuid:97676d78-d8a7-11f1-ae73-e4fade41113c NCBIGene:284184 biolink:causes Orphanet:2609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33551 infores:orphanet PMID:31866046 Assessed uuid:97676d79-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:626 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:17301836|PMID:18633438|PMID:25490715 Assessed uuid:97676d7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:gene_associated_with_condition Orphanet:626 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1097 infores:orphanet PMID:30792255 Assessed uuid:97676d7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9839 biolink:gene_associated_with_condition Orphanet:626 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:14881 infores:orphanet PMID:30359577 Assessed uuid:97676d7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5894 biolink:gene_associated_with_condition Orphanet:626 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9829 infores:orphanet PMID:30359577 Assessed uuid:97676d7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:gene_associated_with_condition Orphanet:626 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:427 infores:orphanet PMID:30359577 Assessed uuid:97676d7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4893 biolink:causes Orphanet:626 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7989 infores:orphanet PMID:23392294|PMID:24129063 Assessed uuid:97676d7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6660 biolink:gene_associated_with_condition Orphanet:626 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11201 infores:orphanet PMID:30359577 Assessed uuid:97676d80-d8a7-11f1-ae73-e4fade41113c NCBIGene:5264 biolink:causes Orphanet:773 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8940 infores:orphanet PMID:20301527 Assessed uuid:97676d81-d8a7-11f1-ae73-e4fade41113c NCBIGene:5191 biolink:causes Orphanet:773 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8860 infores:orphanet PMID:20301527 Assessed uuid:97676d82-d8a7-11f1-ae73-e4fade41113c NCBIGene:3575 biolink:causes Orphanet:169154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6024 infores:orphanet Assessed uuid:97676d83-d8a7-11f1-ae73-e4fade41113c NCBIGene:727 biolink:causes Orphanet:169150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1331 infores:orphanet Assessed uuid:97676d84-d8a7-11f1-ae73-e4fade41113c NCBIGene:729 biolink:causes Orphanet:169150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1339 infores:orphanet Assessed uuid:97676d85-d8a7-11f1-ae73-e4fade41113c NCBIGene:730 biolink:causes Orphanet:169150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1346 infores:orphanet Assessed uuid:97676d86-d8a7-11f1-ae73-e4fade41113c NCBIGene:731 biolink:causes Orphanet:169150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1352 infores:orphanet Assessed uuid:97676d87-d8a7-11f1-ae73-e4fade41113c NCBIGene:732 biolink:causes Orphanet:169150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1353 infores:orphanet Assessed uuid:97676d88-d8a7-11f1-ae73-e4fade41113c NCBIGene:733 biolink:causes Orphanet:169150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1354 infores:orphanet PMID:22773339 Assessed uuid:97676d89-d8a7-11f1-ae73-e4fade41113c NCBIGene:735 biolink:causes Orphanet:169150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1358 infores:orphanet Assessed uuid:97676d8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:915 biolink:causes Orphanet:169160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1673 infores:orphanet Assessed uuid:97676d8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:916 biolink:causes Orphanet:169160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1674 infores:orphanet Assessed uuid:97676d8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:919 biolink:causes Orphanet:169160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1677 infores:orphanet Assessed uuid:97676d8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5788 biolink:causes Orphanet:169157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9666 infores:orphanet PMID:11145714 Assessed uuid:97676d8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2055 biolink:causes Orphanet:1947 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2079 infores:orphanet PMID:21990111 Assessed uuid:97676d8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:717 biolink:causes Orphanet:169147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1248 infores:orphanet Assessed uuid:97676d90-d8a7-11f1-ae73-e4fade41113c NCBIGene:720 biolink:causes Orphanet:169147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1323 infores:orphanet Assessed uuid:97676d91-d8a7-11f1-ae73-e4fade41113c NCBIGene:721 biolink:causes Orphanet:169147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1324 infores:orphanet Assessed uuid:97676d92-d8a7-11f1-ae73-e4fade41113c NCBIGene:712 biolink:causes Orphanet:169147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1241 infores:orphanet Assessed uuid:97676d93-d8a7-11f1-ae73-e4fade41113c NCBIGene:713 biolink:causes Orphanet:169147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1242 infores:orphanet Assessed uuid:97676d94-d8a7-11f1-ae73-e4fade41113c NCBIGene:714 biolink:causes Orphanet:169147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1245 infores:orphanet Assessed uuid:97676d95-d8a7-11f1-ae73-e4fade41113c NCBIGene:716 biolink:causes Orphanet:169147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1247 infores:orphanet Assessed uuid:97676d96-d8a7-11f1-ae73-e4fade41113c NCBIGene:715 biolink:causes Orphanet:169147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1246 infores:orphanet PMID:22773339 Assessed uuid:97676d97-d8a7-11f1-ae73-e4fade41113c NCBIGene:1053 biolink:causes Orphanet:169142 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1836 infores:orphanet PMID:10359588 Assessed loss_of_function_variant_form uuid:97676d98-d8a7-11f1-ae73-e4fade41113c NCBIGene:6603 biolink:causes Orphanet:169142 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11107 infores:orphanet PMID:28369036 Assessed loss_of_function_variant_form uuid:97676d99-d8a7-11f1-ae73-e4fade41113c NCBIGene:4534 biolink:causes Orphanet:596 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7448 infores:orphanet PMID:20301605 Assessed loss_of_function_variant_form uuid:97676d9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1291 biolink:causes Orphanet:610 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2211 infores:orphanet PMID:20301676 Assessed uuid:97676d9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1292 biolink:causes Orphanet:610 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2212 infores:orphanet PMID:20301676 Assessed uuid:97676d9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1293 biolink:causes Orphanet:610 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2213 infores:orphanet PMID:20301676 Assessed uuid:97676d9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1303 biolink:causes Orphanet:610 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2188 infores:orphanet PMID:24334769|PMID:24334604 Assessed gain_of_function_variant_form uuid:97676d9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:169186 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:20839240 Assessed uuid:97676d9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:169186 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12403 infores:orphanet PMID:23975875 Assessed uuid:97676da0-d8a7-11f1-ae73-e4fade41113c NCBIGene:274 biolink:causes Orphanet:169186 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1052 infores:orphanet PMID:17676042 Assessed loss_of_function_variant_form uuid:97676da1-d8a7-11f1-ae73-e4fade41113c NCBIGene:10290 biolink:causes Orphanet:169186 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16901 infores:orphanet PMID:25087613 Assessed uuid:97676da2-d8a7-11f1-ae73-e4fade41113c NCBIGene:8517 biolink:causes Orphanet:464 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5961 infores:orphanet PMID:20301645 Assessed uuid:97676da3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:gene_associated_with_condition Orphanet:169189 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10483 infores:orphanet Not yet assessed uuid:97676da4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1785 biolink:causes Orphanet:169189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2974 infores:orphanet PMID:16227997 Assessed uuid:97676da5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4618 biolink:gene_associated_with_condition Orphanet:169189 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7566 infores:orphanet Not yet assessed uuid:97676da6-d8a7-11f1-ae73-e4fade41113c NCBIGene:274 biolink:causes Orphanet:169189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1052 infores:orphanet PMID:25260562 Assessed loss_of_function_variant_form uuid:97676da7-d8a7-11f1-ae73-e4fade41113c NCBIGene:64419 biolink:gene_associated_with_condition Orphanet:169189 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:26190 infores:orphanet PMID:17008356 Not yet assessed uuid:97676da8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5828 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9717 infores:orphanet Assessed uuid:97676da9-d8a7-11f1-ae73-e4fade41113c NCBIGene:5189 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8850 infores:orphanet Assessed uuid:97676daa-d8a7-11f1-ae73-e4fade41113c NCBIGene:5192 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8851 infores:orphanet Assessed uuid:97676dab-d8a7-11f1-ae73-e4fade41113c NCBIGene:5193 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8854 infores:orphanet Assessed uuid:97676dac-d8a7-11f1-ae73-e4fade41113c NCBIGene:5194 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8855 infores:orphanet Assessed uuid:97676dad-d8a7-11f1-ae73-e4fade41113c NCBIGene:5195 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8856 infores:orphanet Assessed uuid:97676dae-d8a7-11f1-ae73-e4fade41113c NCBIGene:9409 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8857 infores:orphanet Assessed uuid:97676daf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5824 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9713 infores:orphanet Assessed uuid:97676db0-d8a7-11f1-ae73-e4fade41113c NCBIGene:55670 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22965 infores:orphanet Assessed uuid:97676db1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8504 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8858 infores:orphanet Assessed uuid:97676db2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5830 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9719 infores:orphanet Assessed uuid:97676db3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5190 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8859 infores:orphanet Assessed uuid:97676db4-d8a7-11f1-ae73-e4fade41113c NCBIGene:8799 biolink:causes Orphanet:44 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8853 infores:orphanet Assessed uuid:97676db5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3081 biolink:causes Orphanet:56 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4892 infores:orphanet PMID:20301627 Assessed loss_of_function_variant_form uuid:97676db6-d8a7-11f1-ae73-e4fade41113c NCBIGene:9049 biolink:contributes_to Orphanet:963 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:358 infores:orphanet PMID:20530095|PMID:23038625|PMID:23300914|PMID:20616502 Assessed uuid:97676db7-d8a7-11f1-ae73-e4fade41113c NCBIGene:83550 biolink:contributes_to Orphanet:963 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:14963 infores:orphanet PMID:25470569 Assessed uuid:97676db8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7010 biolink:causes Orphanet:1059 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11724 infores:orphanet PMID:27519652 Assessed uuid:97676db9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7915 biolink:causes Orphanet:22 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:408 infores:orphanet PMID:20301374 Assessed uuid:97676dba-d8a7-11f1-ae73-e4fade41113c NCBIGene:4598 biolink:causes Orphanet:29 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7530 infores:orphanet Assessed uuid:97676dbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:10262 biolink:causes Orphanet:245 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10771 infores:orphanet PMID:22541558 Assessed uuid:97676dbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:7372 biolink:causes Orphanet:30 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12563 infores:orphanet PMID:9042911|PMID:19562503 Assessed loss_of_function_variant_form uuid:97676dbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2737 biolink:causes Orphanet:36 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4319 infores:orphanet PMID:23633388|PMID:12414818 Assessed uuid:97676dbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:374654 biolink:causes Orphanet:36 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30497 infores:orphanet PMID:21552264|PMID:23142271 Assessed uuid:97676dbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2245 biolink:causes Orphanet:915 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3663 infores:orphanet Assessed uuid:97676dc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4010 biolink:causes Orphanet:2614 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6654 infores:orphanet PMID:20301311 Assessed uuid:97676dc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3712 biolink:causes Orphanet:33 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6186 infores:orphanet Assessed uuid:97676dc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:10743 biolink:causes Orphanet:819 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9834 infores:orphanet PMID:20301487 Assessed uuid:97676dc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:174 biolink:causes Orphanet:168615 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:317 infores:orphanet PMID:7684942 Assessed uuid:97676dc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:174 biolink:causes Orphanet:168612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:317 infores:orphanet PMID:15280901 Assessed uuid:97676dc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:860 biolink:causes Orphanet:1452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10472 infores:orphanet Assessed uuid:97676dc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:84930 biolink:causes Orphanet:168629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19042 infores:orphanet PMID:12890928 Assessed uuid:97676dc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2120 biolink:causes Orphanet:168629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3495 infores:orphanet PMID:27365488 Assessed uuid:97676dc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:54205 biolink:causes Orphanet:168629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19986 infores:orphanet PMID:18345000|PMID:24326104 Assessed uuid:97676dc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:22852 biolink:causes Orphanet:168629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29186 infores:orphanet PMID:26175287 Assessed uuid:97676dca-d8a7-11f1-ae73-e4fade41113c NCBIGene:64376 biolink:causes Orphanet:168629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14283 infores:orphanet PMID:31217188 Assessed uuid:97676dcb-d8a7-11f1-ae73-e4fade41113c NCBIGene:157680 biolink:causes Orphanet:193 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2183 infores:orphanet Assessed uuid:97676dcc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:168624 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3689 infores:orphanet PMID:16061565 Assessed uuid:97676dcd-d8a7-11f1-ae73-e4fade41113c NCBIGene:64581 biolink:causes Orphanet:1334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14558 infores:orphanet PMID:19864674 Assessed uuid:97676dce-d8a7-11f1-ae73-e4fade41113c NCBIGene:23765 biolink:causes Orphanet:1334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5985 infores:orphanet PMID:21350122 Assessed uuid:97676dcf-d8a7-11f1-ae73-e4fade41113c NCBIGene:112744 biolink:causes Orphanet:1334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16404 infores:orphanet PMID:21350122 Assessed uuid:97676dd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:10758 biolink:causes Orphanet:1334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1343 infores:orphanet PMID:24120361 Assessed uuid:97676dd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:84818 biolink:causes Orphanet:1334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18358 infores:orphanet PMID:25918342 Assessed loss_of_function_variant_form uuid:97676dd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:84916 biolink:causes Orphanet:168583 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1983 infores:orphanet PMID:12417987 Assessed uuid:97676dd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:291 biolink:causes Orphanet:1369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10990 infores:orphanet PMID:22187496 Assessed loss_of_function_variant_form uuid:97676dd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:55750 biolink:causes Orphanet:1369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21869 infores:orphanet PMID:22284826 Assessed loss_of_function_variant_form uuid:97676dd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:26007 biolink:causes Orphanet:1369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24552 infores:orphanet PMID:32004446 Assessed uuid:97676dd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6513 biolink:causes Orphanet:168577 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11005 infores:orphanet PMID:21791420 Assessed uuid:97676dd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7259 biolink:causes Orphanet:168593 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12382 infores:orphanet PMID:15273283 Assessed loss_of_function_variant_form uuid:97676dd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9563 biolink:causes Orphanet:168588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4795 infores:orphanet PMID:18628520 Assessed loss_of_function_variant_form uuid:97676dd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3290 biolink:causes Orphanet:168588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5208 infores:orphanet PMID:21325058 Assessed loss_of_function_variant_form uuid:97676dda-d8a7-11f1-ae73-e4fade41113c NCBIGene:5651 biolink:causes Orphanet:168601 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9490 infores:orphanet PMID:11719902 Assessed uuid:97676ddb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4143 biolink:causes Orphanet:168598 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6903 infores:orphanet PMID:22951388 Assessed uuid:97676ddc-d8a7-11f1-ae73-e4fade41113c NCBIGene:79755 biolink:causes Orphanet:168606 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25843 infores:orphanet PMID:16751772 Assessed uuid:97676ddd-d8a7-11f1-ae73-e4fade41113c NCBIGene:63895 biolink:causes Orphanet:1154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:26270 infores:orphanet PMID:23487782 Assessed gain_of_function_variant_form uuid:97676dde-d8a7-11f1-ae73-e4fade41113c NCBIGene:1583 biolink:causes Orphanet:168558 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2590 infores:orphanet PMID:18182448|PMID:15507506|PMID:11502818 Assessed loss_of_function_variant_form uuid:97676ddf-d8a7-11f1-ae73-e4fade41113c NCBIGene:50846 biolink:causes Orphanet:168563 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2865 infores:orphanet PMID:11017805 Assessed uuid:97676de0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6223 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10402 infores:orphanet PMID:20301769 Assessed uuid:97676de1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6229 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10411 infores:orphanet PMID:20301769 Assessed uuid:97676de2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2623 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4170 infores:orphanet PMID:24952648|PMID:22706301 Assessed loss_of_function_variant_form uuid:97676de3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6218 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10397 infores:orphanet PMID:20301769 Assessed uuid:97676de4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6201 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10440 infores:orphanet PMID:20301769 Assessed uuid:97676de5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6125 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10360 infores:orphanet PMID:20301769 Assessed uuid:97676de6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6135 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10301 infores:orphanet PMID:20301769 Assessed uuid:97676de7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6165 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10345 infores:orphanet PMID:20301769 Assessed uuid:97676de8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6204 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10383 infores:orphanet PMID:20301769 Assessed uuid:97676de9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6231 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10414 infores:orphanet PMID:20301769 Assessed uuid:97676dea-d8a7-11f1-ae73-e4fade41113c NCBIGene:6154 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10327 infores:orphanet PMID:20301769|PMID:22431104 Assessed uuid:97676deb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6138 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10306 infores:orphanet PMID:20301769|PMID:23812780 Assessed uuid:97676dec-d8a7-11f1-ae73-e4fade41113c NCBIGene:51816 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1839 infores:orphanet PMID:30503522 Assessed uuid:97676ded-d8a7-11f1-ae73-e4fade41113c NCBIGene:6235 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10419 infores:orphanet PMID:24829207 Assessed loss_of_function_variant_form uuid:97676dee-d8a7-11f1-ae73-e4fade41113c NCBIGene:90121 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25455 infores:orphanet PMID:24942156 Assessed loss_of_function_variant_form uuid:97676def-d8a7-11f1-ae73-e4fade41113c NCBIGene:6234 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10418 infores:orphanet PMID:24942156 Assessed loss_of_function_variant_form uuid:97676df0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6224 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10405 infores:orphanet PMID:32790018 Assessed uuid:97676df1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6155 biolink:gene_associated_with_condition Orphanet:124 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10328 infores:orphanet PMID:25424902 Not yet assessed uuid:97676df2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6160 biolink:gene_associated_with_condition Orphanet:124 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10334 infores:orphanet PMID:25042156 Not yet assessed uuid:97676df3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6133 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10369 infores:orphanet PMID:31799629 Assessed uuid:97676df4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6232 biolink:gene_associated_with_condition Orphanet:124 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10416 infores:orphanet PMID:25424902 Not yet assessed uuid:97676df5-d8a7-11f1-ae73-e4fade41113c NCBIGene:11224 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10344 infores:orphanet PMID:28280134 Assessed uuid:97676df6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6141 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10310 infores:orphanet PMID:28280134 Assessed uuid:97676df7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6210 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10389 infores:orphanet PMID:27909223 Assessed loss_of_function_variant_form uuid:97676df8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55027 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26087 infores:orphanet PMID:35213692 Assessed uuid:97676df9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6132 biolink:causes Orphanet:124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10368 infores:orphanet PMID:34961992 Assessed loss_of_function_variant_form uuid:97676dfa-d8a7-11f1-ae73-e4fade41113c NCBIGene:10102 biolink:causes Orphanet:168566 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12367 infores:orphanet PMID:17033963 Assessed loss_of_function_variant_form uuid:97676dfb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:1310 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:22855962 Assessed uuid:97676dfc-d8a7-11f1-ae73-e4fade41113c NCBIGene:55315 biolink:causes Orphanet:168569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23096 infores:orphanet PMID:18940313 Assessed uuid:97676dfd-d8a7-11f1-ae73-e4fade41113c NCBIGene:246329 biolink:causes Orphanet:168572 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28423 infores:orphanet PMID:23736855 Assessed uuid:97676dfe-d8a7-11f1-ae73-e4fade41113c NCBIGene:641 biolink:causes Orphanet:125 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1058 infores:orphanet PMID:20301572 Assessed uuid:97676dff-d8a7-11f1-ae73-e4fade41113c NCBIGene:383 biolink:causes Orphanet:90 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:663 infores:orphanet PMID:20301338 Assessed uuid:97676e00-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:1065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:17595013|PMID:17148041 Assessed uuid:97676e01-d8a7-11f1-ae73-e4fade41113c NCBIGene:3708 biolink:causes Orphanet:1065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6180 infores:orphanet PMID:27108797|PMID:27108798 Assessed uuid:97676e02-d8a7-11f1-ae73-e4fade41113c NCBIGene:54187 biolink:causes Orphanet:168454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19237 infores:orphanet PMID:27213289 Assessed loss_of_function_variant_form uuid:97676e03-d8a7-11f1-ae73-e4fade41113c NCBIGene:7136 biolink:causes Orphanet:1146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11946 infores:orphanet PMID:23401156 Assessed uuid:97676e04-d8a7-11f1-ae73-e4fade41113c NCBIGene:7140 biolink:causes Orphanet:1146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11950 infores:orphanet PMID:23401156 Assessed uuid:97676e05-d8a7-11f1-ae73-e4fade41113c NCBIGene:7169 biolink:causes Orphanet:1146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12011 infores:orphanet PMID:23401156 Assessed uuid:97676e06-d8a7-11f1-ae73-e4fade41113c NCBIGene:4621 biolink:causes Orphanet:1146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7573 infores:orphanet PMID:23401156 Assessed uuid:97676e07-d8a7-11f1-ae73-e4fade41113c NCBIGene:4604 biolink:causes Orphanet:1146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7549 infores:orphanet PMID:20045868 Assessed uuid:97676e08-d8a7-11f1-ae73-e4fade41113c NCBIGene:259232 biolink:causes Orphanet:1146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19082 infores:orphanet PMID:25683120 Assessed uuid:97676e09-d8a7-11f1-ae73-e4fade41113c NCBIGene:84570 biolink:causes Orphanet:1143 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18603 infores:orphanet PMID:35077597 Assessed uuid:97676e0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57222 biolink:causes Orphanet:1143 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29205 infores:orphanet PMID:28317099 Assessed uuid:97676e0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55681 biolink:causes Orphanet:1143 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19286 infores:orphanet PMID:31960134 Assessed uuid:97676e0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7136 biolink:causes Orphanet:1147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11946 infores:orphanet PMID:23401156 Assessed uuid:97676e0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7140 biolink:causes Orphanet:1147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11950 infores:orphanet PMID:23401156 Assessed uuid:97676e0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7169 biolink:causes Orphanet:1147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12011 infores:orphanet PMID:23401156 Assessed uuid:97676e0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4621 biolink:causes Orphanet:1147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7573 infores:orphanet PMID:23401156|PMID:16642020 Assessed uuid:97676e10-d8a7-11f1-ae73-e4fade41113c NCBIGene:259232 biolink:causes Orphanet:1147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19082 infores:orphanet PMID:25683120 Assessed uuid:97676e11-d8a7-11f1-ae73-e4fade41113c NCBIGene:1723 biolink:causes Orphanet:246 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2867 infores:orphanet PMID:19915526 Assessed loss_of_function_variant_form uuid:97676e12-d8a7-11f1-ae73-e4fade41113c NCBIGene:55012 biolink:causes Orphanet:1770 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17485 infores:orphanet PMID:34750818 Assessed uuid:97676e13-d8a7-11f1-ae73-e4fade41113c NCBIGene:65057 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25070 infores:orphanet PMID:25205116 Assessed uuid:97676e14-d8a7-11f1-ae73-e4fade41113c NCBIGene:1736 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2890 infores:orphanet PMID:20301779 Assessed uuid:97676e15-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11730 infores:orphanet PMID:20301779 Assessed uuid:97676e16-d8a7-11f1-ae73-e4fade41113c NCBIGene:7012 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11727 infores:orphanet PMID:20301779 Assessed uuid:97676e17-d8a7-11f1-ae73-e4fade41113c NCBIGene:26277 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11824 infores:orphanet PMID:20301779 Assessed uuid:97676e18-d8a7-11f1-ae73-e4fade41113c NCBIGene:55505 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14378 infores:orphanet PMID:20301779 Assessed uuid:97676e19-d8a7-11f1-ae73-e4fade41113c NCBIGene:4869 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7910 infores:orphanet PMID:31570891 Assessed loss_of_function_variant_form uuid:97676e1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:55651 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14377 infores:orphanet PMID:20301779 Assessed uuid:97676e1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79650 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25792 infores:orphanet PMID:20817924|PMID:22160078 Assessed uuid:97676e1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7298 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12441 infores:orphanet PMID:35931051 Assessed uuid:97676e1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55135 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25522 infores:orphanet PMID:20301779 Assessed uuid:97676e1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:80169 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26169 infores:orphanet PMID:20301779|PMID:22532422|PMID:22556055 Assessed uuid:97676e1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51750 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15888 infores:orphanet PMID:23453664 Assessed uuid:97676e20-d8a7-11f1-ae73-e4fade41113c NCBIGene:5073 biolink:causes Orphanet:1775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8609 infores:orphanet PMID:25893599 Assessed uuid:97676e21-d8a7-11f1-ae73-e4fade41113c NCBIGene:8518 biolink:causes Orphanet:1764 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5959 infores:orphanet PMID:20301359 Assessed uuid:97676e22-d8a7-11f1-ae73-e4fade41113c NCBIGene:54808 biolink:causes Orphanet:239 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21317 infores:orphanet PMID:21280149|PMID:12554689|PMID:18996921|PMID:12491225 Assessed loss_of_function_variant_form uuid:97676e23-d8a7-11f1-ae73-e4fade41113c NCBIGene:4524 biolink:causes Orphanet:395 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7436 infores:orphanet Assessed uuid:97676e24-d8a7-11f1-ae73-e4fade41113c NCBIGene:1373 biolink:causes Orphanet:147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2323 infores:orphanet PMID:20800523 Assessed loss_of_function_variant_form uuid:97676e25-d8a7-11f1-ae73-e4fade41113c NCBIGene:435 biolink:causes Orphanet:23 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:746 infores:orphanet PMID:12384776|PMID:21290785 Assessed loss_of_function_variant_form uuid:97676e26-d8a7-11f1-ae73-e4fade41113c NCBIGene:270 biolink:causes Orphanet:45 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:468 infores:orphanet Assessed uuid:97676e27-d8a7-11f1-ae73-e4fade41113c NCBIGene:272 biolink:causes Orphanet:45 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:470 infores:orphanet PMID:8004104|PMID:11139257 Assessed uuid:97676e28-d8a7-11f1-ae73-e4fade41113c NCBIGene:5860 biolink:causes Orphanet:226 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9752 infores:orphanet PMID:9744478 Assessed uuid:97676e29-d8a7-11f1-ae73-e4fade41113c NCBIGene:7545 biolink:gene_associated_with_condition Orphanet:217 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12872 infores:orphanet PMID:15338008|PMID:15733262|PMID:21204220|PMID:21307096 Assessed uuid:97676e2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:84107 biolink:gene_associated_with_condition Orphanet:217 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:20393 infores:orphanet PMID:15338008|PMID:15733262|PMID:21204220|PMID:21307096 Assessed uuid:97676e2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:1556 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4379 infores:orphanet PMID:35351629 Assessed uuid:97676e2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:151188 biolink:gene_associated_with_condition Orphanet:1556 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:24048 infores:orphanet PMID:25957586 Not yet assessed uuid:97676e2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9990 biolink:causes Orphanet:1496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10914 infores:orphanet PMID:20301546 Assessed uuid:97676e2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:846 biolink:causes Orphanet:417 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1514 infores:orphanet Assessed loss_of_function_variant_form uuid:97676e2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55503 biolink:causes Orphanet:417 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14006 infores:orphanet PMID:29861107 Assessed uuid:97676e30-d8a7-11f1-ae73-e4fade41113c NCBIGene:2697 biolink:contributes_to Orphanet:2248 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4274 infores:orphanet PMID:11470490|PMID:19683641|PMID:19298922 Assessed uuid:97676e31-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:contributes_to Orphanet:2248 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2488 infores:orphanet PMID:12798584|PMID:14607454|PMID:20456451 Assessed uuid:97676e32-d8a7-11f1-ae73-e4fade41113c NCBIGene:23414 biolink:contributes_to Orphanet:2140 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16700 infores:orphanet PMID:21525063 Assessed uuid:97676e33-d8a7-11f1-ae73-e4fade41113c NCBIGene:2627 biolink:contributes_to Orphanet:2140 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4174 infores:orphanet PMID:24385578 Assessed uuid:97676e34-d8a7-11f1-ae73-e4fade41113c NCBIGene:9361 biolink:contributes_to Orphanet:2140 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9479 infores:orphanet PMID:34547244 Assessed uuid:97676e35-d8a7-11f1-ae73-e4fade41113c NCBIGene:340024 biolink:causes Orphanet:2116 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27960 infores:orphanet PMID:15286787|PMID:15286788 Assessed uuid:97676e36-d8a7-11f1-ae73-e4fade41113c NCBIGene:57393 biolink:causes Orphanet:2116 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29437 infores:orphanet PMID:31520464 Assessed uuid:97676e37-d8a7-11f1-ae73-e4fade41113c NCBIGene:3242 biolink:gene_associated_with_condition Orphanet:2118 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:5147 infores:orphanet PMID:11073718|PMID:17560158 Not yet assessed uuid:97676e38-d8a7-11f1-ae73-e4fade41113c NCBIGene:5476 biolink:causes Orphanet:351 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9251 infores:orphanet Assessed uuid:97676e39-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:2020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet PMID:20301436 Assessed uuid:97676e3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57190 biolink:causes Orphanet:2020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15999 infores:orphanet PMID:20301436 Assessed uuid:97676e3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7169 biolink:causes Orphanet:2020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12011 infores:orphanet PMID:22832343 Assessed uuid:97676e3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7170 biolink:causes Orphanet:2020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12012 infores:orphanet PMID:20301436 Assessed uuid:97676e3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4633 biolink:causes Orphanet:2020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7583 infores:orphanet PMID:23365102 Assessed uuid:97676e3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3679 biolink:causes Orphanet:2020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6143 infores:orphanet PMID:23800289 Assessed uuid:97676e3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9200 biolink:causes Orphanet:2020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9639 infores:orphanet PMID:23933735 Assessed loss_of_function_variant_form uuid:97676e40-d8a7-11f1-ae73-e4fade41113c NCBIGene:51776 biolink:causes Orphanet:2020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17797 infores:orphanet PMID:27816943 Assessed uuid:97676e41-d8a7-11f1-ae73-e4fade41113c NCBIGene:4621 biolink:causes Orphanet:2053 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7573 infores:orphanet PMID:16642020 Assessed uuid:97676e42-d8a7-11f1-ae73-e4fade41113c NCBIGene:259232 biolink:causes Orphanet:2053 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19082 infores:orphanet PMID:25683120 Assessed uuid:97676e43-d8a7-11f1-ae73-e4fade41113c NCBIGene:8803 biolink:causes Orphanet:1933 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11448 infores:orphanet PMID:17287286|PMID:20301762 Assessed uuid:97676e44-d8a7-11f1-ae73-e4fade41113c NCBIGene:4625 biolink:causes Orphanet:1880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7577 infores:orphanet PMID:23956225 Assessed uuid:97676e45-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:1885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet Assessed uuid:97676e46-d8a7-11f1-ae73-e4fade41113c NCBIGene:54507 biolink:causes Orphanet:1885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19706 infores:orphanet Assessed uuid:97676e47-d8a7-11f1-ae73-e4fade41113c NCBIGene:8929 biolink:contributes_to Orphanet:635 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9143 infores:orphanet PMID:15024693 Assessed uuid:97676e48-d8a7-11f1-ae73-e4fade41113c NCBIGene:4613 biolink:gene_associated_with_condition Orphanet:635 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:7559 infores:orphanet Assessed uuid:97676e49-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:contributes_to Orphanet:635 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:427 infores:orphanet PMID:18923523 Assessed uuid:97676e4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57531 biolink:contributes_to Orphanet:635 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:21033 infores:orphanet PMID:22911191 Assessed uuid:97676e4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:389421 biolink:contributes_to Orphanet:635 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:32207 infores:orphanet PMID:22911191 Assessed uuid:97676e4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4004 biolink:contributes_to Orphanet:635 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6641 infores:orphanet PMID:26560027 Assessed uuid:97676e4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3265 biolink:causes Orphanet:2612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5173 infores:orphanet PMID:22683711 Assessed uuid:97676e4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:causes Orphanet:2612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6407 infores:orphanet PMID:22683711 Assessed uuid:97676e4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4893 biolink:gene_associated_with_condition Orphanet:2612 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7989 infores:orphanet PMID:25914220 Not yet assessed uuid:97676e50-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:2635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18083 infores:orphanet PMID:22791502 Assessed uuid:97676e51-d8a7-11f1-ae73-e4fade41113c NCBIGene:7555 biolink:causes Orphanet:606 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13164 infores:orphanet PMID:20301639 Assessed uuid:97676e52-d8a7-11f1-ae73-e4fade41113c NCBIGene:5172 biolink:causes Orphanet:705 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8818 infores:orphanet PMID:20301640 Assessed uuid:97676e53-d8a7-11f1-ae73-e4fade41113c NCBIGene:3766 biolink:causes Orphanet:705 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6256 infores:orphanet PMID:20301640 Assessed uuid:97676e54-d8a7-11f1-ae73-e4fade41113c NCBIGene:2299 biolink:causes Orphanet:705 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3815 infores:orphanet PMID:20301640 Assessed uuid:97676e55-d8a7-11f1-ae73-e4fade41113c NCBIGene:8792 biolink:gene_associated_with_condition Orphanet:2801 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11908 infores:orphanet PMID:25063546 Not yet assessed uuid:97676e56-d8a7-11f1-ae73-e4fade41113c NCBIGene:4982 biolink:causes Orphanet:2801 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11909 infores:orphanet PMID:12124406 Assessed uuid:97676e57-d8a7-11f1-ae73-e4fade41113c NCBIGene:760 biolink:causes Orphanet:2785 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1373 infores:orphanet Assessed uuid:97676e58-d8a7-11f1-ae73-e4fade41113c NCBIGene:64221 biolink:causes Orphanet:2744 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13433 infores:orphanet Assessed uuid:97676e59-d8a7-11f1-ae73-e4fade41113c NCBIGene:1630 biolink:causes Orphanet:2744 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2701 infores:orphanet PMID:28250456 Assessed uuid:97676e5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3636 biolink:causes Orphanet:2746 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6080 infores:orphanet PMID:23273567|PMID:23263569 Assessed uuid:97676e5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51 biolink:causes Orphanet:2971 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:119 infores:orphanet PMID:22508517 Assessed uuid:97676e5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1131 biolink:causes Orphanet:2970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1952 infores:orphanet PMID:22077972 Assessed loss_of_function_variant_form uuid:97676e5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:207 biolink:causes Orphanet:744 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:391 infores:orphanet PMID:21793738 Assessed uuid:97676e5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:201163 biolink:causes Orphanet:2903 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27310 infores:orphanet PMID:15657874|PMID:18505456 Assessed uuid:97676e5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10801 biolink:contributes_to Orphanet:2901 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7323 infores:orphanet Assessed uuid:97676e60-d8a7-11f1-ae73-e4fade41113c NCBIGene:6662 biolink:causes Orphanet:718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11204 infores:orphanet PMID:24934569|PMID:19234473 Assessed uuid:97676e61-d8a7-11f1-ae73-e4fade41113c NCBIGene:3265 biolink:causes Orphanet:3071 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:5173 infores:orphanet PMID:20301680 Assessed gain_of_function_variant_form uuid:97676e62-d8a7-11f1-ae73-e4fade41113c NCBIGene:1513 biolink:causes Orphanet:763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2536 infores:orphanet PMID:21569238 Assessed loss_of_function_variant_form uuid:97676e63-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:2301 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3754 infores:orphanet PMID:23037936 Assessed uuid:97676e64-d8a7-11f1-ae73-e4fade41113c NCBIGene:79827 biolink:causes Orphanet:2301 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24039 infores:orphanet PMID:22155368 Assessed loss_of_function_variant_form uuid:97676e65-d8a7-11f1-ae73-e4fade41113c NCBIGene:229 biolink:causes Orphanet:469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:417 infores:orphanet PMID:20848650 Assessed uuid:97676e66-d8a7-11f1-ae73-e4fade41113c NCBIGene:2313 biolink:gene_associated_with_condition Orphanet:2308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3749 infores:orphanet PMID:26285164 Assessed uuid:97676e67-d8a7-11f1-ae73-e4fade41113c NCBIGene:80184 biolink:causes Orphanet:2318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29021 infores:orphanet PMID:20615230|PMID:20301500 Assessed uuid:97676e68-d8a7-11f1-ae73-e4fade41113c NCBIGene:57545 biolink:causes Orphanet:2318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29253 infores:orphanet PMID:20301500 Assessed uuid:97676e69-d8a7-11f1-ae73-e4fade41113c NCBIGene:51259 biolink:causes Orphanet:2318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25018 infores:orphanet PMID:20301500 Assessed uuid:97676e6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:65062 biolink:causes Orphanet:2318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14432 infores:orphanet PMID:20301500|PMID:22152675 Assessed uuid:97676e6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51524 biolink:causes Orphanet:2318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26944 infores:orphanet PMID:22282472 Assessed loss_of_function_variant_form uuid:97676e6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23090 biolink:causes Orphanet:2318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16762 infores:orphanet PMID:22863007 Assessed uuid:97676e6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:79583 biolink:causes Orphanet:2318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:37234 infores:orphanet PMID:20301500|PMID:23012439 Assessed uuid:97676e6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:2253 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:9931324 Assessed uuid:97676e6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5792 biolink:causes Orphanet:180188 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9670 infores:orphanet PMID:24781087 Assessed loss_of_function_variant_form uuid:97676e70-d8a7-11f1-ae73-e4fade41113c NCBIGene:7227 biolink:gene_associated_with_condition Orphanet:502 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12340 infores:orphanet Assessed uuid:97676e71-d8a7-11f1-ae73-e4fade41113c NCBIGene:2131 biolink:gene_associated_with_condition Orphanet:502 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3512 infores:orphanet Assessed uuid:97676e72-d8a7-11f1-ae73-e4fade41113c NCBIGene:5885 biolink:gene_associated_with_condition Orphanet:502 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9811 infores:orphanet PMID:25792522 Assessed uuid:97676e73-d8a7-11f1-ae73-e4fade41113c NCBIGene:2706 biolink:causes Orphanet:477 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4284 infores:orphanet Assessed uuid:97676e74-d8a7-11f1-ae73-e4fade41113c NCBIGene:10804 biolink:causes Orphanet:477 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4288 infores:orphanet PMID:15140211 Assessed uuid:97676e75-d8a7-11f1-ae73-e4fade41113c NCBIGene:55699 biolink:causes Orphanet:506 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29685 infores:orphanet PMID:39169373 Assessed uuid:97676e76-d8a7-11f1-ae73-e4fade41113c NCBIGene:10908 biolink:causes Orphanet:2377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16268 infores:orphanet PMID:25480986 Assessed loss_of_function_variant_form uuid:97676e77-d8a7-11f1-ae73-e4fade41113c NCBIGene:3897 biolink:causes Orphanet:2466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6470 infores:orphanet PMID:20301657 Assessed uuid:97676e78-d8a7-11f1-ae73-e4fade41113c NCBIGene:1301 biolink:causes Orphanet:560 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2186 infores:orphanet Assessed uuid:97676e79-d8a7-11f1-ae73-e4fade41113c NCBIGene:23129 biolink:causes Orphanet:570 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9107 infores:orphanet PMID:26068067 Assessed uuid:97676e7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5980 biolink:causes Orphanet:570 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9968 infores:orphanet PMID:26068067 Assessed uuid:97676e7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3953 biolink:causes Orphanet:179494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6554 infores:orphanet PMID:9537324|PMID:17229951 Assessed loss_of_function_variant_form uuid:97676e7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:287 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:10739762 Assessed uuid:97676e7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1289 biolink:causes Orphanet:287 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2209 infores:orphanet PMID:15580559|PMID:22696272 Assessed uuid:97676e7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1290 biolink:causes Orphanet:287 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2210 infores:orphanet PMID:15580559|PMID:22696272 Assessed uuid:97676e7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5663 biolink:causes Orphanet:1020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9508 infores:orphanet PMID:20301414 Assessed uuid:97676e80-d8a7-11f1-ae73-e4fade41113c NCBIGene:5664 biolink:causes Orphanet:1020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9509 infores:orphanet PMID:20301414 Assessed uuid:97676e81-d8a7-11f1-ae73-e4fade41113c NCBIGene:54209 biolink:gene_associated_with_condition Orphanet:1020 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:17761 infores:orphanet PMID:23380991 Not yet assessed uuid:97676e82-d8a7-11f1-ae73-e4fade41113c NCBIGene:351 biolink:causes Orphanet:1020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:620 infores:orphanet PMID:20301414 Assessed uuid:97676e83-d8a7-11f1-ae73-e4fade41113c NCBIGene:6653 biolink:causes Orphanet:1020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11185 infores:orphanet PMID:22472873 Assessed uuid:97676e84-d8a7-11f1-ae73-e4fade41113c NCBIGene:10452 biolink:gene_associated_with_condition Orphanet:1020 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:18001 infores:orphanet PMID:25201778|PMID:23234877 Not yet assessed uuid:97676e85-d8a7-11f1-ae73-e4fade41113c NCBIGene:4935 biolink:causes Orphanet:54 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20145 infores:orphanet Assessed uuid:97676e86-d8a7-11f1-ae73-e4fade41113c NCBIGene:8943 biolink:gene_associated_with_condition Orphanet:54 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:568 infores:orphanet Not yet assessed uuid:97676e87-d8a7-11f1-ae73-e4fade41113c NCBIGene:10060 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:60 infores:orphanet PMID:15034580 Assessed uuid:97676e88-d8a7-11f1-ae73-e4fade41113c NCBIGene:70 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:143 infores:orphanet PMID:9563954|PMID:20301486 Assessed uuid:97676e89-d8a7-11f1-ae73-e4fade41113c NCBIGene:5663 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9508 infores:orphanet PMID:17186461|PMID:20301486 Assessed uuid:97676e8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5664 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9509 infores:orphanet PMID:17186461|PMID:20301486 Assessed uuid:97676e8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10593 infores:orphanet PMID:15466643|PMID:22766342|PMID:20301486 Assessed gain_of_function_variant_form uuid:97676e8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6389 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10680 infores:orphanet PMID:20551992 Assessed uuid:97676e8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6444 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10807 infores:orphanet PMID:10974018|PMID:20301486 Assessed uuid:97676e8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6901 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11577 infores:orphanet PMID:7616547|PMID:9382096|PMID:20301486 Assessed uuid:97676e8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8557 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11610 infores:orphanet PMID:15582318|PMID:19412328|PMID:20301486 Assessed uuid:97676e90-d8a7-11f1-ae73-e4fade41113c NCBIGene:7137 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11947 infores:orphanet PMID:15070570|PMID:19590045|PMID:20301486 Assessed uuid:97676e91-d8a7-11f1-ae73-e4fade41113c NCBIGene:7139 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11949 infores:orphanet PMID:11684629|PMID:15542288|PMID:20301486 Assessed uuid:97676e92-d8a7-11f1-ae73-e4fade41113c NCBIGene:7168 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12010 infores:orphanet PMID:11273725|PMID:20301486 Assessed uuid:97676e93-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12403 infores:orphanet PMID:11788824|PMID:20301486 Assessed uuid:97676e94-d8a7-11f1-ae73-e4fade41113c NCBIGene:1410 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2389 infores:orphanet PMID:16483541|PMID:16793013 Assessed uuid:97676e95-d8a7-11f1-ae73-e4fade41113c NCBIGene:8048 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2472 infores:orphanet PMID:14567970|PMID:20301486 Assessed uuid:97676e96-d8a7-11f1-ae73-e4fade41113c NCBIGene:1674 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2770 infores:orphanet PMID:10430757|PMID:20301486 Assessed uuid:97676e97-d8a7-11f1-ae73-e4fade41113c NCBIGene:1756 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2928 infores:orphanet PMID:14567970|PMID:20301486 Assessed uuid:97676e98-d8a7-11f1-ae73-e4fade41113c NCBIGene:1829 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3049 infores:orphanet PMID:18678517|PMID:20301486 Assessed uuid:97676e99-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:30993396 Assessed uuid:97676e9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2218 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3622 infores:orphanet PMID:17036286 Assessed uuid:97676e9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:11155 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15710 infores:orphanet PMID:14662268|PMID:14660611|PMID:20301486 Assessed uuid:97676e9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:24846508 Assessed uuid:97676e9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:22845 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23406 infores:orphanet PMID:22242004 Assessed loss_of_function_variant_form uuid:97676e9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4607 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7551 infores:orphanet PMID:20215591|PMID:20301486 Assessed uuid:97676e9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4624 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7576 infores:orphanet PMID:15998695|PMID:20215591|PMID:20301486 Assessed uuid:97676ea0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4625 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7577 infores:orphanet PMID:11106718|PMID:20301486 Assessed uuid:97676ea1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5894 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9829 infores:orphanet PMID:24777450 Assessed uuid:97676ea2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7112 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11875 infores:orphanet PMID:16247757|PMID:20301486 Assessed uuid:97676ea3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7134 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11943 infores:orphanet PMID:15542288|PMID:20301486 Assessed uuid:97676ea4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7414 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12665 infores:orphanet PMID:11815424|PMID:20301486 Assessed uuid:97676ea5-d8a7-11f1-ae73-e4fade41113c NCBIGene:88 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:164 infores:orphanet PMID:14567970|PMID:25224718|PMID:20301486 Assessed uuid:97676ea6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2274 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3703 infores:orphanet PMID:17416352 Assessed uuid:97676ea7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5350 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9080 infores:orphanet PMID:12610310|PMID:20301486 Assessed uuid:97676ea8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9531 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:939 infores:orphanet PMID:21353195|PMID:20301486 Assessed uuid:97676ea9-d8a7-11f1-ae73-e4fade41113c NCBIGene:282996 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27424 infores:orphanet PMID:19712804|PMID:20301486 Assessed uuid:97676eaa-d8a7-11f1-ae73-e4fade41113c NCBIGene:91624 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29557 infores:orphanet PMID:19881492|PMID:20301486 Assessed loss_of_function_variant_form uuid:97676eab-d8a7-11f1-ae73-e4fade41113c NCBIGene:57158 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14202 infores:orphanet PMID:31227780 Assessed uuid:97676eac-d8a7-11f1-ae73-e4fade41113c NCBIGene:10587 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18155 infores:orphanet PMID:21247928 Assessed loss_of_function_variant_form uuid:97676ead-d8a7-11f1-ae73-e4fade41113c NCBIGene:57798 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29941 infores:orphanet PMID:21965549 Assessed uuid:97676eae-d8a7-11f1-ae73-e4fade41113c NCBIGene:84665 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23246 infores:orphanet PMID:18006477|PMID:22892539 Assessed uuid:97676eaf-d8a7-11f1-ae73-e4fade41113c NCBIGene:3910 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6484 infores:orphanet PMID:17646580 Assessed uuid:97676eb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:63976 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14000 infores:orphanet PMID:23768516 Assessed uuid:97676eb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:27063 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15819 infores:orphanet PMID:19525294|PMID:20301486 Assessed uuid:97676eb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9464 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4808 infores:orphanet PMID:30217752 Assessed loss_of_function_variant_form uuid:97676eb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:9015 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11532 infores:orphanet PMID:28472305 Assessed uuid:97676eb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:79717 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25686 infores:orphanet PMID:29754768 Assessed uuid:97676eb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:10486 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20039 infores:orphanet PMID:30518548 Assessed uuid:97676eb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:442721 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6648 infores:orphanet PMID:35082396 Assessed uuid:97676eb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:9529 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:941 infores:orphanet PMID:35044787 Assessed loss_of_function_variant_form uuid:97676eb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7716 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12949 infores:orphanet PMID:36657711 Assessed uuid:97676eb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6123 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10351 infores:orphanet PMID:32514796 Assessed uuid:97676eba-d8a7-11f1-ae73-e4fade41113c NCBIGene:439 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:752 infores:orphanet PMID:31461301 Assessed loss_of_function_variant_form uuid:97676ebb-d8a7-11f1-ae73-e4fade41113c NCBIGene:118461 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26973 infores:orphanet PMID:38950288 Assessed uuid:97676ebc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2318 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3756 infores:orphanet PMID:28008423 Assessed uuid:97676ebd-d8a7-11f1-ae73-e4fade41113c NCBIGene:4892 biolink:causes Orphanet:154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7988 infores:orphanet PMID:41033658 Assessed uuid:97676ebe-d8a7-11f1-ae73-e4fade41113c NCBIGene:5888 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9817 infores:orphanet PMID:26681308 Assessed uuid:97676ebf-d8a7-11f1-ae73-e4fade41113c NCBIGene:672 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1100 infores:orphanet PMID:29133208 Assessed loss_of_function_variant_form uuid:97676ec0-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1101 infores:orphanet PMID:20301575 Assessed uuid:97676ec1-d8a7-11f1-ae73-e4fade41113c NCBIGene:83990 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20473 infores:orphanet PMID:20301575 Assessed uuid:97676ec2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2072 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3436 infores:orphanet PMID:23623386 Assessed uuid:97676ec3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2175 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3582 infores:orphanet PMID:20301575 Assessed uuid:97676ec4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2187 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3583 infores:orphanet PMID:20301575 Assessed uuid:97676ec5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2176 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3584 infores:orphanet PMID:20301575 Assessed uuid:97676ec6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2177 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3585 infores:orphanet PMID:20301575 Assessed uuid:97676ec7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2178 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3586 infores:orphanet PMID:20301575 Assessed uuid:97676ec8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2188 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3587 infores:orphanet PMID:20301575 Assessed uuid:97676ec9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2189 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3588 infores:orphanet PMID:20301575 Assessed uuid:97676eca-d8a7-11f1-ae73-e4fade41113c NCBIGene:55120 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20748 infores:orphanet PMID:20301575 Assessed uuid:97676ecb-d8a7-11f1-ae73-e4fade41113c NCBIGene:57697 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23168 infores:orphanet PMID:20301575 Assessed uuid:97676ecc-d8a7-11f1-ae73-e4fade41113c NCBIGene:55215 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25568 infores:orphanet PMID:20301575 Assessed uuid:97676ecd-d8a7-11f1-ae73-e4fade41113c NCBIGene:79728 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26144 infores:orphanet PMID:20301575 Assessed uuid:97676ece-d8a7-11f1-ae73-e4fade41113c NCBIGene:5889 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9820 infores:orphanet PMID:20301575 Assessed uuid:97676ecf-d8a7-11f1-ae73-e4fade41113c NCBIGene:84464 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23845 infores:orphanet PMID:20301575 Assessed uuid:97676ed0-d8a7-11f1-ae73-e4fade41113c NCBIGene:7516 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12829 infores:orphanet PMID:22232082|PMID:27208205 Assessed uuid:97676ed1-d8a7-11f1-ae73-e4fade41113c NCBIGene:29089 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25009 infores:orphanet PMID:26046368 Assessed uuid:97676ed2-d8a7-11f1-ae73-e4fade41113c NCBIGene:10459 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6764 infores:orphanet PMID:27500492 Assessed uuid:97676ed3-d8a7-11f1-ae73-e4fade41113c NCBIGene:55159 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25539 infores:orphanet PMID:28691929 Assessed uuid:97676ed4-d8a7-11f1-ae73-e4fade41113c NCBIGene:80233 biolink:causes Orphanet:84 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26171 infores:orphanet PMID:40244696 Assessed loss_of_function_variant_form uuid:97676ed5-d8a7-11f1-ae73-e4fade41113c NCBIGene:224 biolink:causes Orphanet:816 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:403 infores:orphanet Assessed uuid:97676ed6-d8a7-11f1-ae73-e4fade41113c NCBIGene:64324 biolink:causes Orphanet:821 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14234 infores:orphanet PMID:20301652 Assessed loss_of_function_variant_form uuid:97676ed7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10297 biolink:causes Orphanet:821 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24036 infores:orphanet PMID:25753423|PMID:31585108 Assessed loss_of_function_variant_form uuid:97676ed8-d8a7-11f1-ae73-e4fade41113c NCBIGene:84876 biolink:causes Orphanet:3204 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:25896 infores:orphanet PMID:24591628 Assessed gain_of_function_variant_form uuid:97676ed9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6786 biolink:causes Orphanet:3204 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11386 infores:orphanet PMID:24591628 Assessed gain_of_function_variant_form uuid:97676eda-d8a7-11f1-ae73-e4fade41113c NCBIGene:2776 biolink:causes Orphanet:3205 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4390 infores:orphanet PMID:23656586 Assessed uuid:97676edb-d8a7-11f1-ae73-e4fade41113c NCBIGene:9939 biolink:causes Orphanet:3320 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9905 infores:orphanet PMID:22366785 Assessed uuid:97676edc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3239 biolink:gene_associated_with_condition Orphanet:887 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:5136 infores:orphanet PMID:19006232 Not yet assessed uuid:97676edd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1593 biolink:causes Orphanet:909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2605 infores:orphanet PMID:20301583 Assessed uuid:97676ede-d8a7-11f1-ae73-e4fade41113c NCBIGene:64324 biolink:gene_associated_with_condition Orphanet:3447 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:14234 infores:orphanet Not yet assessed uuid:97676edf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2146 biolink:causes Orphanet:3447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3527 infores:orphanet PMID:22177091|PMID:23865096|PMID:24214728 Assessed uuid:97676ee0-d8a7-11f1-ae73-e4fade41113c NCBIGene:23512 biolink:causes Orphanet:3447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17101 infores:orphanet PMID:28229514 Assessed loss_of_function_variant_form uuid:97676ee1-d8a7-11f1-ae73-e4fade41113c NCBIGene:55733 biolink:causes Orphanet:1422 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18270 infores:orphanet PMID:24784881 Assessed loss_of_function_variant_form uuid:97676ee2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10588 infores:orphanet PMID:31904126|PMID:38651838 Assessed uuid:97676ee3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3785 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6296 infores:orphanet PMID:33754465 Assessed uuid:97676ee4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6925 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11634 infores:orphanet PMID:22670824 Assessed uuid:97676ee5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1501 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2516 infores:orphanet PMID:33718894 Assessed uuid:97676ee6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1013 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1754 infores:orphanet PMID:19012874 Assessed uuid:97676ee7-d8a7-11f1-ae73-e4fade41113c NCBIGene:84623 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23204 infores:orphanet PMID:19012874 Assessed uuid:97676ee8-d8a7-11f1-ae73-e4fade41113c NCBIGene:81704 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19191 infores:orphanet PMID:18060736 Assessed uuid:97676ee9-d8a7-11f1-ae73-e4fade41113c NCBIGene:55777 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20444 infores:orphanet PMID:23422940 Assessed uuid:97676eea-d8a7-11f1-ae73-e4fade41113c NCBIGene:28514 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2908 infores:orphanet PMID:31353024 Assessed uuid:97676eeb-d8a7-11f1-ae73-e4fade41113c NCBIGene:2902 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4584 infores:orphanet PMID:21376300 Assessed uuid:97676eec-d8a7-11f1-ae73-e4fade41113c NCBIGene:1778 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2961 infores:orphanet PMID:22368300 Assessed uuid:97676eed-d8a7-11f1-ae73-e4fade41113c NCBIGene:10369 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1406 infores:orphanet PMID:21376300 Assessed uuid:97676eee-d8a7-11f1-ae73-e4fade41113c NCBIGene:2036 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3378 infores:orphanet PMID:21376300 Assessed uuid:97676eef-d8a7-11f1-ae73-e4fade41113c NCBIGene:6334 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10596 infores:orphanet PMID:16236810 Assessed uuid:97676ef0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1213 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2092 infores:orphanet PMID:29100083 Assessed uuid:97676ef1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2066 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3432 infores:orphanet PMID:33603162 Assessed uuid:97676ef2-d8a7-11f1-ae73-e4fade41113c NCBIGene:166336 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20340 infores:orphanet PMID:34092786 Assessed uuid:97676ef3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6529 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11042 infores:orphanet PMID:34006619 Assessed uuid:97676ef4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1523 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2557 infores:orphanet PMID:30014507 Assessed uuid:97676ef5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3097 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4921 infores:orphanet PMID:26153216|PMID:27003583 Assessed loss_of_function_variant_form uuid:97676ef6-d8a7-11f1-ae73-e4fade41113c NCBIGene:56479 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6299 infores:orphanet PMID:28669405 Assessed uuid:97676ef7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10765 biolink:gene_associated_with_condition Orphanet:178469 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:18039 infores:orphanet PMID:24307393 Not yet assessed uuid:97676ef8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8766 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9760 infores:orphanet PMID:29100083 Assessed uuid:97676ef9-d8a7-11f1-ae73-e4fade41113c NCBIGene:23152 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14214 infores:orphanet PMID:28288114 Assessed loss_of_function_variant_form uuid:97676efa-d8a7-11f1-ae73-e4fade41113c NCBIGene:1460 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2460 infores:orphanet PMID:28585349 Assessed loss_of_function_variant_form uuid:97676efb-d8a7-11f1-ae73-e4fade41113c NCBIGene:10501 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10739 infores:orphanet PMID:35604360 Assessed uuid:97676efc-d8a7-11f1-ae73-e4fade41113c NCBIGene:55870 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19088 infores:orphanet PMID:23033978|PMID:28394464 Assessed uuid:97676efd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6418 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10760 infores:orphanet PMID:29688601 Assessed uuid:97676efe-d8a7-11f1-ae73-e4fade41113c NCBIGene:815 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1460 infores:orphanet PMID:29100089 Assessed uuid:97676eff-d8a7-11f1-ae73-e4fade41113c NCBIGene:816 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1461 infores:orphanet PMID:29100089 Assessed uuid:97676f00-d8a7-11f1-ae73-e4fade41113c NCBIGene:2890 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4571 infores:orphanet PMID:28628100 Assessed uuid:97676f01-d8a7-11f1-ae73-e4fade41113c NCBIGene:9024 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11405 infores:orphanet PMID:30879638 Assessed loss_of_function_variant_form uuid:97676f02-d8a7-11f1-ae73-e4fade41113c NCBIGene:2550 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4070 infores:orphanet PMID:36103875 Assessed uuid:97676f03-d8a7-11f1-ae73-e4fade41113c NCBIGene:6453 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6183 infores:orphanet PMID:34707297 Assessed uuid:97676f04-d8a7-11f1-ae73-e4fade41113c NCBIGene:57551 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29259 infores:orphanet PMID:31230721 Assessed loss_of_function_variant_form uuid:97676f05-d8a7-11f1-ae73-e4fade41113c NCBIGene:80036 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17992 infores:orphanet PMID:31278393 Assessed uuid:97676f06-d8a7-11f1-ae73-e4fade41113c NCBIGene:26960 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7648 infores:orphanet PMID:30269351 Assessed uuid:97676f07-d8a7-11f1-ae73-e4fade41113c NCBIGene:23067 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29187 infores:orphanet PMID:32546566 Assessed uuid:97676f08-d8a7-11f1-ae73-e4fade41113c NCBIGene:7534 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12855 infores:orphanet PMID:36001342 Assessed uuid:97676f09-d8a7-11f1-ae73-e4fade41113c NCBIGene:8911 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1396 infores:orphanet PMID:33704440 Assessed uuid:97676f0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:377 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:654 infores:orphanet PMID:34346499 Assessed uuid:97676f0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1808 biolink:causes Orphanet:178469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3014 infores:orphanet PMID:35861646 Assessed uuid:976b615a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2273 biolink:causes Orphanet:178461 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3702 infores:orphanet PMID:18179888 Assessed uuid:976b615b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:178464 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12403 infores:orphanet PMID:24575448 Assessed uuid:976b615c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5265 biolink:causes Orphanet:178396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8941 infores:orphanet PMID:19483159 Assessed uuid:976b615d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8291 biolink:causes Orphanet:178400 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3097 infores:orphanet PMID:19493611 Assessed uuid:976b615e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8792 biolink:causes Orphanet:178389 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11908 infores:orphanet PMID:18606301 Assessed uuid:976b615f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6442 biolink:causes Orphanet:62 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10805 infores:orphanet PMID:19798725|PMID:21856579|PMID:20301582 Assessed uuid:976b6160-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:causes Orphanet:178364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8522 infores:orphanet PMID:15846561|PMID:20396904 Assessed uuid:976b6161-d8a7-11f1-ae73-e4fade41113c NCBIGene:5255 biolink:causes Orphanet:715 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8925 infores:orphanet Assessed uuid:976b6162-d8a7-11f1-ae73-e4fade41113c NCBIGene:5260 biolink:gene_associated_with_condition Orphanet:715 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:8930 infores:orphanet Not yet assessed uuid:976b6163-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:causes Orphanet:178377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6697 infores:orphanet PMID:15940380 Assessed gain_of_function_variant_form uuid:976b6164-d8a7-11f1-ae73-e4fade41113c NCBIGene:2203 biolink:causes Orphanet:348 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3606 infores:orphanet PMID:9382095|PMID:12126934|PMID:24007283 Assessed uuid:976b6165-d8a7-11f1-ae73-e4fade41113c NCBIGene:1588 biolink:causes Orphanet:178345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2594 infores:orphanet PMID:21470988|PMID:22319526|PMID:24064691 Assessed gain_of_function_variant_form uuid:976b6166-d8a7-11f1-ae73-e4fade41113c NCBIGene:54808 biolink:causes Orphanet:178355 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21317 infores:orphanet PMID:15464420|PMID:12491225 Assessed loss_of_function_variant_form uuid:976b6167-d8a7-11f1-ae73-e4fade41113c NCBIGene:83452 biolink:causes Orphanet:178355 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16075 infores:orphanet PMID:22652534 Assessed uuid:976b6168-d8a7-11f1-ae73-e4fade41113c NCBIGene:2074 biolink:causes Orphanet:178338 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3438 infores:orphanet PMID:15486090 Assessed uuid:976b6169-d8a7-11f1-ae73-e4fade41113c NCBIGene:1161 biolink:causes Orphanet:178338 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3439 infores:orphanet PMID:19329487 Assessed uuid:976b616a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57654 biolink:causes Orphanet:178338 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29304 infores:orphanet PMID:22466610|PMID:22466611|PMID:22466612 Assessed uuid:976b616b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7170 biolink:gene_associated_with_condition Orphanet:178342 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12012 infores:orphanet PMID:17063337 Assessed uuid:976b616c-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:gene_associated_with_condition Orphanet:178342 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:427 infores:orphanet PMID:17063337 Assessed uuid:976b616d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5903 biolink:gene_associated_with_condition Orphanet:178342 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9848 infores:orphanet PMID:12661011 Assessed uuid:976b616e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1213 biolink:gene_associated_with_condition Orphanet:178342 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2092 infores:orphanet PMID:17656252 Assessed uuid:976b616f-d8a7-11f1-ae73-e4fade41113c NCBIGene:833 biolink:gene_associated_with_condition Orphanet:178342 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1493 infores:orphanet PMID:13679433|PMID:12112524 Assessed uuid:976b6170-d8a7-11f1-ae73-e4fade41113c NCBIGene:7171 biolink:gene_associated_with_condition Orphanet:178342 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12013 infores:orphanet PMID:10934142 Assessed uuid:976b6171-d8a7-11f1-ae73-e4fade41113c NCBIGene:355 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11920 infores:orphanet PMID:26136352 Assessed uuid:976b6172-d8a7-11f1-ae73-e4fade41113c NCBIGene:3106 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4932 infores:orphanet PMID:20622878 Assessed uuid:976b6173-d8a7-11f1-ae73-e4fade41113c NCBIGene:3459 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5439 infores:orphanet PMID:33393726 Assessed uuid:976b6174-d8a7-11f1-ae73-e4fade41113c NCBIGene:3586 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5962 infores:orphanet PMID:20622878|PMID:26015771 Assessed uuid:976b6175-d8a7-11f1-ae73-e4fade41113c NCBIGene:149233 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:19100 infores:orphanet PMID:23633568 Assessed uuid:976b6176-d8a7-11f1-ae73-e4fade41113c NCBIGene:4210 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6998 infores:orphanet PMID:23633568 Assessed uuid:976b6177-d8a7-11f1-ae73-e4fade41113c NCBIGene:720 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1323 infores:orphanet PMID:23918728 Assessed uuid:976b6178-d8a7-11f1-ae73-e4fade41113c NCBIGene:3592 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5969 infores:orphanet PMID:25799145 Assessed uuid:976b6179-d8a7-11f1-ae73-e4fade41113c NCBIGene:337867 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:20486 infores:orphanet PMID:21918955|PMID:22455605 Assessed uuid:976b617a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6775 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11365 infores:orphanet PMID:23001997|PMID:26097239 Assessed uuid:976b617b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7099 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11850 infores:orphanet PMID:23633568 Assessed uuid:976b617c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1230 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1602 infores:orphanet PMID:26097239 Assessed uuid:976b617d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8302 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6377 infores:orphanet PMID:26097239 Assessed uuid:976b617e-d8a7-11f1-ae73-e4fade41113c NCBIGene:101928376 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:49094 infores:orphanet PMID:26097239 Assessed uuid:976b617f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51752 biolink:contributes_to Orphanet:117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:18173 infores:orphanet PMID:26097239 Assessed uuid:976b6180-d8a7-11f1-ae73-e4fade41113c NCBIGene:1639 biolink:causes Orphanet:178509 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2711 infores:orphanet Assessed uuid:976b6181-d8a7-11f1-ae73-e4fade41113c NCBIGene:10056 biolink:causes Orphanet:178506 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17800 infores:orphanet PMID:30014610 Assessed uuid:976b6182-d8a7-11f1-ae73-e4fade41113c NCBIGene:2193 biolink:causes Orphanet:178506 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3592 infores:orphanet PMID:39766840|PMID:31355908 Assessed uuid:976b6183-d8a7-11f1-ae73-e4fade41113c NCBIGene:2157 biolink:causes Orphanet:177926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3546 infores:orphanet PMID:20301578|PMID:25611311|PMID:19302446 Assessed uuid:976b6184-d8a7-11f1-ae73-e4fade41113c NCBIGene:2158 biolink:causes Orphanet:177929 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3551 infores:orphanet Assessed uuid:976b6185-d8a7-11f1-ae73-e4fade41113c NCBIGene:6638 biolink:gene_associated_with_condition Orphanet:177901 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11164 infores:orphanet PMID:20301505 Assessed uuid:976b6186-d8a7-11f1-ae73-e4fade41113c NCBIGene:54551 biolink:gene_associated_with_condition Orphanet:177901 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6814 infores:orphanet PMID:20301505 Assessed uuid:976b6187-d8a7-11f1-ae73-e4fade41113c NCBIGene:4692 biolink:gene_associated_with_condition Orphanet:177901 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7675 infores:orphanet PMID:20301505 Assessed uuid:976b6188-d8a7-11f1-ae73-e4fade41113c NCBIGene:4948 biolink:gene_associated_with_condition Orphanet:177901 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:8101 infores:orphanet PMID:20301505 Assessed uuid:976b6189-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:423 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:20301325 Assessed uuid:976b618a-d8a7-11f1-ae73-e4fade41113c NCBIGene:779 biolink:contributes_to Orphanet:423 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1397 infores:orphanet PMID:9175745|PMID:9199552|PMID:20301325 Assessed uuid:976b618b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6638 biolink:gene_associated_with_condition Orphanet:177904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11164 infores:orphanet PMID:20301505 Assessed uuid:976b618c-d8a7-11f1-ae73-e4fade41113c NCBIGene:54551 biolink:gene_associated_with_condition Orphanet:177904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6814 infores:orphanet PMID:20301505 Assessed uuid:976b618d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4692 biolink:gene_associated_with_condition Orphanet:177904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7675 infores:orphanet PMID:20301505 Assessed uuid:976b618e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4948 biolink:gene_associated_with_condition Orphanet:177904 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:8101 infores:orphanet PMID:20301505 Assessed uuid:976b618f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6638 biolink:gene_associated_with_condition Orphanet:177907 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11164 infores:orphanet PMID:11159938|PMID:12154412|PMID:8845846 Assessed uuid:976b6190-d8a7-11f1-ae73-e4fade41113c NCBIGene:6638 biolink:gene_associated_with_condition Orphanet:177910 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11164 infores:orphanet PMID:9634532 Assessed uuid:976b6191-d8a7-11f1-ae73-e4fade41113c NCBIGene:54551 biolink:gene_associated_with_condition Orphanet:177910 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6814 infores:orphanet PMID:20301505 Assessed uuid:976b6192-d8a7-11f1-ae73-e4fade41113c NCBIGene:4692 biolink:gene_associated_with_condition Orphanet:177910 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7675 infores:orphanet PMID:24039599 Assessed uuid:976b6193-d8a7-11f1-ae73-e4fade41113c NCBIGene:215 biolink:causes Orphanet:388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:61 infores:orphanet PMID:33151932 Assessed uuid:976b6194-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:causes Orphanet:388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9967 infores:orphanet PMID:31609069 Assessed uuid:976b6195-d8a7-11f1-ae73-e4fade41113c NCBIGene:538 biolink:causes Orphanet:388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:869 infores:orphanet PMID:33151932 Assessed uuid:976b6196-d8a7-11f1-ae73-e4fade41113c NCBIGene:1889 biolink:contributes_to Orphanet:388 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3146 infores:orphanet PMID:20301612 Assessed uuid:976b6197-d8a7-11f1-ae73-e4fade41113c NCBIGene:1908 biolink:contributes_to Orphanet:388 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3178 infores:orphanet PMID:20301612 Assessed uuid:976b6198-d8a7-11f1-ae73-e4fade41113c NCBIGene:1910 biolink:contributes_to Orphanet:388 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3180 infores:orphanet PMID:20301612 Assessed uuid:976b6199-d8a7-11f1-ae73-e4fade41113c NCBIGene:2668 biolink:contributes_to Orphanet:388 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4232 infores:orphanet PMID:20301612 Assessed uuid:976b619a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4902 biolink:contributes_to Orphanet:388 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:8007 infores:orphanet PMID:20301612 Assessed uuid:976b619b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2065 biolink:causes Orphanet:388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3431 infores:orphanet PMID:33497358 Assessed uuid:976b619c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10512 biolink:contributes_to Orphanet:388 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10725 infores:orphanet PMID:25839327 Assessed uuid:976b619d-d8a7-11f1-ae73-e4fade41113c NCBIGene:223117 biolink:contributes_to Orphanet:388 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10726 infores:orphanet PMID:25839327 Assessed uuid:976b619e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6608 biolink:causes Orphanet:388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11119 infores:orphanet PMID:32413283 Assessed uuid:976b619f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2064 biolink:causes Orphanet:388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3430 infores:orphanet PMID:33497358 Assessed uuid:976b61a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6720 biolink:causes Orphanet:388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11289 infores:orphanet PMID:33151932 Assessed uuid:976b61a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:778 biolink:causes Orphanet:178333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1393 infores:orphanet PMID:17525176 Assessed uuid:976b61a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4860 biolink:causes Orphanet:760 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7892 infores:orphanet PMID:11453975 Assessed loss_of_function_variant_form uuid:976b61a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8106 biolink:causes Orphanet:270 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8565 infores:orphanet PMID:20301305 Assessed uuid:976b61a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6103 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10295 infores:orphanet Assessed uuid:976b61a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:8701 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2942 infores:orphanet PMID:20301301 Assessed uuid:976b61a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1767 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2950 infores:orphanet PMID:20301301 Assessed uuid:976b61a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:27019 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2954 infores:orphanet PMID:20301301 Assessed uuid:976b61a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8481 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2567 infores:orphanet Assessed uuid:976b61a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:51314 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16473 infores:orphanet PMID:20301301 Assessed uuid:976b61aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:64446 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18744 infores:orphanet PMID:20301301 Assessed uuid:976b61ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:55172 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20188 infores:orphanet PMID:20301301 Assessed uuid:976b61ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:221421 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21057 infores:orphanet PMID:20301301 Assessed uuid:976b61ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:345895 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21558 infores:orphanet PMID:20301301 Assessed uuid:976b61ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:123872 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30539 infores:orphanet PMID:20301301 Assessed uuid:976b61af-d8a7-11f1-ae73-e4fade41113c NCBIGene:339829 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25244 infores:orphanet PMID:20301301 Assessed uuid:976b61b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:55036 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26090 infores:orphanet PMID:20301301 Assessed uuid:976b61b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:83544 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23247 infores:orphanet PMID:20301301 Assessed uuid:976b61b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:352909 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30492 infores:orphanet PMID:22387996|PMID:20301301 Assessed uuid:976b61b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:388389 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32700 infores:orphanet PMID:22581229|PMID:20301301 Assessed uuid:976b61b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:54919 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26013 infores:orphanet PMID:23040496|PMID:20301301 Assessed uuid:976b61b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:54768 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19368 infores:orphanet PMID:23022101|PMID:20301301 Assessed loss_of_function_variant_form uuid:976b61b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:23639 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16725 infores:orphanet PMID:23122589|PMID:20301301 Assessed loss_of_function_variant_form uuid:976b61b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:93233 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26560 infores:orphanet PMID:23261303|PMID:23261302 Assessed loss_of_function_variant_form uuid:976b61b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:92749 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24245 infores:orphanet PMID:23354437 Assessed loss_of_function_variant_form uuid:976b61b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:55130 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25583 infores:orphanet PMID:23849778 Assessed loss_of_function_variant_form uuid:976b61ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:161582 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21493 infores:orphanet PMID:23872636 Assessed loss_of_function_variant_form uuid:976b61bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:89765 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12371 infores:orphanet PMID:23993197 Assessed loss_of_function_variant_form uuid:976b61bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:51364 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19412 infores:orphanet PMID:23891471|PMID:23891469 Assessed loss_of_function_variant_form uuid:976b61bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:56683 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1301 infores:orphanet PMID:24094744 Assessed uuid:976b61be-d8a7-11f1-ae73-e4fade41113c NCBIGene:85478 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29937 infores:orphanet PMID:24094744 Assessed uuid:976b61bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:6674 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11212 infores:orphanet PMID:24055112 Assessed uuid:976b61c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:10309 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18576 infores:orphanet PMID:24747639|PMID:24824133 Assessed loss_of_function_variant_form uuid:976b61c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:25981 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2940 infores:orphanet PMID:25927852 Assessed uuid:976b61c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:115948 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28303 infores:orphanet PMID:25192045 Assessed loss_of_function_variant_form uuid:976b61c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:83861 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21054 infores:orphanet PMID:26073779 Assessed uuid:976b61c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2622 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4166 infores:orphanet PMID:26387594 Assessed loss_of_function_variant_form uuid:976b61c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:374407 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30718 infores:orphanet PMID:27486783 Assessed loss_of_function_variant_form uuid:976b61c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:83538 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25280 infores:orphanet PMID:27486780 Assessed loss_of_function_variant_form uuid:976b61c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:345643 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:40050 infores:orphanet PMID:25048963 Assessed loss_of_function_variant_form uuid:976b61c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:139212 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28570 infores:orphanet PMID:28041644 Assessed loss_of_function_variant_form uuid:976b61c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:27148 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17209 infores:orphanet PMID:28543983 Assessed loss_of_function_variant_form uuid:976b61ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:2302 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3816 infores:orphanet PMID:31630787 Assessed loss_of_function_variant_form uuid:976b61cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:85016 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28188 infores:orphanet PMID:29727692|PMID:29727693 Assessed loss_of_function_variant_form uuid:976b61cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:115399 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25430 infores:orphanet PMID:30388400 Assessed uuid:976b61cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1770 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2953 infores:orphanet PMID:30471717|PMID:30471718 Assessed loss_of_function_variant_form uuid:976b61ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:246176 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24846 infores:orphanet PMID:30649222 Assessed uuid:976b61cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:200373 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33720 infores:orphanet PMID:31636325 Assessed uuid:976b61d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:79925 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26293 infores:orphanet PMID:31545650 Assessed uuid:976b61d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:54970 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23700 infores:orphanet PMID:31820119 Assessed loss_of_function_variant_form uuid:976b61d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:152110 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18592 infores:orphanet PMID:31959991 Assessed uuid:976b61d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8382 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7853 infores:orphanet PMID:32185794|PMID:32950024 Assessed uuid:976b61d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:85452 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29368 infores:orphanet PMID:36047773 Assessed uuid:976b61d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:56171 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18661 infores:orphanet PMID:34476482 Assessed uuid:976b61d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:54014 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12760 infores:orphanet PMID:33389130 Assessed uuid:976b61d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:164781 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26383 infores:orphanet PMID:36074124 Assessed uuid:976b61d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:79645 biolink:causes Orphanet:244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25678 infores:orphanet PMID:36727596 Assessed uuid:976b61d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:102 biolink:causes Orphanet:178307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:188 infores:orphanet PMID:23666529 Assessed loss_of_function_variant_form uuid:976b61da-d8a7-11f1-ae73-e4fade41113c NCBIGene:7248 biolink:causes Orphanet:805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12362 infores:orphanet PMID:20301399 Assessed uuid:976b61db-d8a7-11f1-ae73-e4fade41113c NCBIGene:7249 biolink:causes Orphanet:805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12363 infores:orphanet PMID:20301399 Assessed uuid:976b61dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3458 biolink:contributes_to Orphanet:805 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:5438 infores:orphanet PMID:12192641 Assessed uuid:976b61dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:178145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:20301467|PMID:12112081 Assessed uuid:976b61de-d8a7-11f1-ae73-e4fade41113c NCBIGene:80201 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23302 infores:orphanet PMID:30085091 Assessed uuid:976b61df-d8a7-11f1-ae73-e4fade41113c NCBIGene:762 biolink:gene_associated_with_condition Orphanet:791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1375 infores:orphanet PMID:20301590 Not yet assessed uuid:976b61e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:83856 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13753 infores:orphanet PMID:41720099 Assessed uuid:976b61e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:56890 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29917 infores:orphanet PMID:41742423 Assessed uuid:976b61e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:26827 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10227 infores:orphanet PMID:41513982 Assessed uuid:976b61e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:103625684 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34270 infores:orphanet PMID:41513982 Assessed uuid:976b61e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:101954278 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34285 infores:orphanet PMID:41513982 Assessed uuid:976b61e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:101954271 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34269 infores:orphanet PMID:41513982 Assessed uuid:976b61e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:29105 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29523 infores:orphanet PMID:36329026 Assessed uuid:976b61e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:24 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34 infores:orphanet PMID:20301590 Assessed uuid:976b61e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55624 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19139 infores:orphanet PMID:26908613 Assessed uuid:976b61e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:768206 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32528 infores:orphanet PMID:20301590 Assessed uuid:976b61ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:9129 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17348 infores:orphanet PMID:20301590 Assessed uuid:976b61eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:26121 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15446 infores:orphanet PMID:20301590 Assessed uuid:976b61ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:10594 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17340 infores:orphanet PMID:20301590 Assessed uuid:976b61ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:20301590 Assessed uuid:976b61ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:145226 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19977 infores:orphanet PMID:20301590 Assessed uuid:976b61ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:5995 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9990 infores:orphanet PMID:20301590 Assessed uuid:976b61f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6010 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10012 infores:orphanet PMID:20301590 Assessed uuid:976b61f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6017 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10024 infores:orphanet PMID:20301590 Assessed uuid:976b61f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6094 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10254 infores:orphanet PMID:20301590 Assessed uuid:976b61f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6101 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10263 infores:orphanet PMID:20301590 Assessed uuid:976b61f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6102 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10274 infores:orphanet Assessed uuid:976b61f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6100 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10288 infores:orphanet PMID:20301590 Assessed uuid:976b61f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6121 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10294 infores:orphanet PMID:20301590 Assessed uuid:976b61f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6103 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10295 infores:orphanet Assessed uuid:976b61f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6295 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10521 infores:orphanet PMID:20301590 Assessed uuid:976b61f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:582 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:966 infores:orphanet PMID:33910932 Assessed uuid:976b61fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:583 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:967 infores:orphanet PMID:25541840 Assessed uuid:976b61fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7439 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12703 infores:orphanet PMID:20301590 Assessed uuid:976b61fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:26834 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10193 infores:orphanet PMID:41513982 Assessed uuid:976b61fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:375298 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21699 infores:orphanet PMID:20301590 Assessed uuid:976b61fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:54806 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21575 infores:orphanet PMID:28442540 Assessed uuid:976b61ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:123016 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20087 infores:orphanet PMID:20301590 Assessed uuid:976b6200-d8a7-11f1-ae73-e4fade41113c NCBIGene:7287 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12423 infores:orphanet PMID:20301590 Assessed uuid:976b6201-d8a7-11f1-ae73-e4fade41113c NCBIGene:7399 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12601 infores:orphanet PMID:20301590 Assessed uuid:976b6202-d8a7-11f1-ae73-e4fade41113c NCBIGene:7401 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12605 infores:orphanet PMID:20301590 Assessed uuid:976b6203-d8a7-11f1-ae73-e4fade41113c NCBIGene:1259 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2148 infores:orphanet PMID:20301590 Assessed uuid:976b6204-d8a7-11f1-ae73-e4fade41113c NCBIGene:23418 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2343 infores:orphanet PMID:20301590 Assessed uuid:976b6205-d8a7-11f1-ae73-e4fade41113c NCBIGene:1406 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2383 infores:orphanet PMID:20301590 Assessed uuid:976b6206-d8a7-11f1-ae73-e4fade41113c NCBIGene:84100 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13210 infores:orphanet PMID:20301590 Assessed uuid:976b6207-d8a7-11f1-ae73-e4fade41113c NCBIGene:25794 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3960 infores:orphanet PMID:20301590 Assessed uuid:976b6208-d8a7-11f1-ae73-e4fade41113c NCBIGene:138050 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26527 infores:orphanet PMID:25859010 Assessed uuid:976b6209-d8a7-11f1-ae73-e4fade41113c NCBIGene:3614 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6052 infores:orphanet PMID:20301590 Assessed uuid:976b620a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10461 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7027 infores:orphanet PMID:20301590 Assessed uuid:976b620b-d8a7-11f1-ae73-e4fade41113c NCBIGene:10002 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7974 infores:orphanet PMID:20301590 Assessed uuid:976b620c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4901 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8002 infores:orphanet PMID:20301590 Assessed uuid:976b620d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8481 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2567 infores:orphanet PMID:22619378 Assessed uuid:976b620e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5145 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8785 infores:orphanet PMID:20301590 Assessed uuid:976b620f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5158 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8786 infores:orphanet PMID:20301590 Assessed uuid:976b6210-d8a7-11f1-ae73-e4fade41113c NCBIGene:64218 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10729 infores:orphanet PMID:20301590 Assessed uuid:976b6211-d8a7-11f1-ae73-e4fade41113c NCBIGene:1258 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2151 infores:orphanet PMID:20301590 Assessed uuid:976b6212-d8a7-11f1-ae73-e4fade41113c NCBIGene:10210 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21653 infores:orphanet PMID:20301590 Assessed uuid:976b6213-d8a7-11f1-ae73-e4fade41113c NCBIGene:57545 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29253 infores:orphanet PMID:30267408 Assessed uuid:976b6214-d8a7-11f1-ae73-e4fade41113c NCBIGene:8842 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9454 infores:orphanet PMID:20301590 Assessed uuid:976b6215-d8a7-11f1-ae73-e4fade41113c NCBIGene:9227 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6685 infores:orphanet PMID:18055821|PMID:20301590 Assessed uuid:976b6216-d8a7-11f1-ae73-e4fade41113c NCBIGene:346007 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21555 infores:orphanet PMID:20301590 Assessed uuid:976b6217-d8a7-11f1-ae73-e4fade41113c NCBIGene:3420 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5385 infores:orphanet PMID:20301590 Assessed uuid:976b6218-d8a7-11f1-ae73-e4fade41113c NCBIGene:55812 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20423 infores:orphanet PMID:19268277|PMID:20301590 Assessed uuid:976b6219-d8a7-11f1-ae73-e4fade41113c NCBIGene:2979 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4679 infores:orphanet PMID:20301590 Assessed uuid:976b621a-d8a7-11f1-ae73-e4fade41113c NCBIGene:55975 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15646 infores:orphanet PMID:20301590 Assessed uuid:976b621b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51259 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25018 infores:orphanet PMID:39191256 Assessed loss_of_function_variant_form uuid:976b621c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23020 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30859 infores:orphanet PMID:20301590 Assessed uuid:976b621d-d8a7-11f1-ae73-e4fade41113c NCBIGene:388939 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34383 infores:orphanet PMID:20301590 Assessed uuid:976b621e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5148 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8789 infores:orphanet PMID:20301590 Assessed uuid:976b621f-d8a7-11f1-ae73-e4fade41113c NCBIGene:50939 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18362 infores:orphanet PMID:20301590 Assessed uuid:976b6220-d8a7-11f1-ae73-e4fade41113c NCBIGene:84140 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25808 infores:orphanet PMID:20301590 Assessed uuid:976b6221-d8a7-11f1-ae73-e4fade41113c NCBIGene:130557 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26498 infores:orphanet PMID:20301590 Assessed uuid:976b6222-d8a7-11f1-ae73-e4fade41113c NCBIGene:92211 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14550 infores:orphanet PMID:20087419 Assessed uuid:976b6223-d8a7-11f1-ae73-e4fade41113c NCBIGene:94137 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15946 infores:orphanet PMID:31833436 Assessed uuid:976b6224-d8a7-11f1-ae73-e4fade41113c NCBIGene:79947 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20603 infores:orphanet PMID:20301590 Assessed uuid:976b6225-d8a7-11f1-ae73-e4fade41113c NCBIGene:24148 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15860 infores:orphanet PMID:20301590 Assessed uuid:976b6226-d8a7-11f1-ae73-e4fade41113c NCBIGene:112752 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29669 infores:orphanet PMID:28973684 Assessed uuid:976b6227-d8a7-11f1-ae73-e4fade41113c NCBIGene:4117 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6816 infores:orphanet PMID:20301590 Assessed uuid:976b6228-d8a7-11f1-ae73-e4fade41113c NCBIGene:5949 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9921 infores:orphanet PMID:20301590|PMID:19074801 Assessed uuid:976b6229-d8a7-11f1-ae73-e4fade41113c NCBIGene:157657 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27232 infores:orphanet PMID:22177090|PMID:20301590 Assessed uuid:976b622a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9742 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29077 infores:orphanet PMID:26216056 Assessed uuid:976b622b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57670 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22219 infores:orphanet PMID:30120214 Assessed uuid:976b622c-d8a7-11f1-ae73-e4fade41113c NCBIGene:79797 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20041 infores:orphanet PMID:25882705 Assessed loss_of_function_variant_form uuid:976b622d-d8a7-11f1-ae73-e4fade41113c NCBIGene:23568 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17146 infores:orphanet PMID:23849777 Assessed uuid:976b622e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4751 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7745 infores:orphanet PMID:24043777 Assessed loss_of_function_variant_form uuid:976b622f-d8a7-11f1-ae73-e4fade41113c NCBIGene:26160 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30391 infores:orphanet PMID:25168386 Assessed uuid:976b6230-d8a7-11f1-ae73-e4fade41113c NCBIGene:3617 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6055 infores:orphanet PMID:32817297 Assessed uuid:976b6231-d8a7-11f1-ae73-e4fade41113c NCBIGene:79934 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19041 infores:orphanet PMID:39226897 Assessed uuid:976b6232-d8a7-11f1-ae73-e4fade41113c NCBIGene:7275 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12406 infores:orphanet PMID:24375934 Assessed loss_of_function_variant_form uuid:976b6233-d8a7-11f1-ae73-e4fade41113c NCBIGene:55857 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15865 infores:orphanet PMID:24680887 Assessed loss_of_function_variant_form uuid:976b6234-d8a7-11f1-ae73-e4fade41113c NCBIGene:57709 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29326 infores:orphanet PMID:24670872 Assessed uuid:976b6235-d8a7-11f1-ae73-e4fade41113c NCBIGene:9128 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17349 infores:orphanet PMID:24419317 Assessed loss_of_function_variant_form uuid:976b6236-d8a7-11f1-ae73-e4fade41113c NCBIGene:60509 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26147 infores:orphanet PMID:26720455 Assessed uuid:976b6237-d8a7-11f1-ae73-e4fade41113c NCBIGene:9785 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17211 infores:orphanet PMID:30208423 Assessed uuid:976b6238-d8a7-11f1-ae73-e4fade41113c NCBIGene:92840 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30078 infores:orphanet PMID:27889058 Assessed loss_of_function_variant_form uuid:976b6239-d8a7-11f1-ae73-e4fade41113c NCBIGene:23370 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17090 infores:orphanet PMID:28132693 Assessed uuid:976b623a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8100 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20606 infores:orphanet PMID:29978320 Assessed uuid:976b623b-d8a7-11f1-ae73-e4fade41113c NCBIGene:49855 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13081 infores:orphanet PMID:28794130 Assessed uuid:976b623c-d8a7-11f1-ae73-e4fade41113c NCBIGene:403 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:694 infores:orphanet PMID:26964041 Assessed uuid:976b623d-d8a7-11f1-ae73-e4fade41113c NCBIGene:196 biolink:causes Orphanet:791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:348 infores:orphanet PMID:29726989 Assessed uuid:976b623e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3419 biolink:gene_associated_with_condition Orphanet:791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:5384 infores:orphanet PMID:28412069 Not yet assessed uuid:976b623f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:causes Orphanet:2131 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10588 infores:orphanet PMID:38097767 Assessed uuid:976b6240-d8a7-11f1-ae73-e4fade41113c NCBIGene:773 biolink:gene_associated_with_condition Orphanet:2131 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1388 infores:orphanet PMID:18498393 Not yet assessed uuid:976b6241-d8a7-11f1-ae73-e4fade41113c NCBIGene:477 biolink:causes Orphanet:2131 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:800 infores:orphanet PMID:15286158 Assessed uuid:976b6242-d8a7-11f1-ae73-e4fade41113c NCBIGene:478 biolink:causes Orphanet:2131 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:801 infores:orphanet PMID:22842232 Assessed uuid:976b6243-d8a7-11f1-ae73-e4fade41113c NCBIGene:6513 biolink:causes Orphanet:2131 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11005 infores:orphanet PMID:19996082 Assessed uuid:976b6244-d8a7-11f1-ae73-e4fade41113c NCBIGene:4568 biolink:causes Orphanet:2131 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7491 infores:orphanet PMID:32489883 Assessed uuid:976b6245-d8a7-11f1-ae73-e4fade41113c NCBIGene:6507 biolink:gene_associated_with_condition Orphanet:2131 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10941 infores:orphanet Not yet assessed uuid:976b6246-d8a7-11f1-ae73-e4fade41113c NCBIGene:23221 biolink:causes Orphanet:2131 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18756 infores:orphanet PMID:33504645 Assessed uuid:976b6247-d8a7-11f1-ae73-e4fade41113c NCBIGene:5230 biolink:causes Orphanet:713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8896 infores:orphanet PMID:1547346 Assessed uuid:976b6248-d8a7-11f1-ae73-e4fade41113c NCBIGene:226 biolink:causes Orphanet:57 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:414 infores:orphanet Assessed uuid:976b6249-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:2334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:7668281 Assessed uuid:976b624a-d8a7-11f1-ae73-e4fade41113c NCBIGene:158 biolink:causes Orphanet:46 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:291 infores:orphanet PMID:18524658 Assessed uuid:976b624b-d8a7-11f1-ae73-e4fade41113c NCBIGene:10020 biolink:causes Orphanet:3166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23657 infores:orphanet PMID:20301343 Assessed uuid:976b624c-d8a7-11f1-ae73-e4fade41113c NCBIGene:64240 biolink:causes Orphanet:2882 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13886 infores:orphanet PMID:11138003|PMID:23556150 Assessed uuid:976b624d-d8a7-11f1-ae73-e4fade41113c NCBIGene:64241 biolink:causes Orphanet:2882 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13887 infores:orphanet PMID:11099417|PMID:23556150 Assessed uuid:976b624e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5657 biolink:contributes_to Orphanet:900 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9495 infores:orphanet PMID:22808956 Assessed uuid:976b624f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1493 biolink:contributes_to Orphanet:900 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2505 infores:orphanet PMID:22508400 Assessed uuid:976b6250-d8a7-11f1-ae73-e4fade41113c NCBIGene:26191 biolink:contributes_to Orphanet:900 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9652 infores:orphanet PMID:22508400|PMID:22696186 Assessed uuid:976b6251-d8a7-11f1-ae73-e4fade41113c NCBIGene:3115 biolink:contributes_to Orphanet:900 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4940 infores:orphanet PMID:23740775 Assessed uuid:976b6252-d8a7-11f1-ae73-e4fade41113c NCBIGene:3113 biolink:contributes_to Orphanet:900 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4938 infores:orphanet PMID:28029757 Assessed uuid:976b6253-d8a7-11f1-ae73-e4fade41113c NCBIGene:6622 biolink:causes Orphanet:171695 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11138 infores:orphanet PMID:23526723 Assessed uuid:976b6254-d8a7-11f1-ae73-e4fade41113c NCBIGene:25793 biolink:causes Orphanet:171695 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13586 infores:orphanet PMID:19038853 Assessed uuid:976b6255-d8a7-11f1-ae73-e4fade41113c NCBIGene:38 biolink:causes Orphanet:134 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:93 infores:orphanet PMID:23430882 Assessed uuid:976b6256-d8a7-11f1-ae73-e4fade41113c NCBIGene:135656 biolink:gene_associated_with_condition Orphanet:171700 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:21666 infores:orphanet Not yet assessed uuid:976b6257-d8a7-11f1-ae73-e4fade41113c NCBIGene:727897 biolink:gene_associated_with_condition Orphanet:171700 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7516 infores:orphanet Not yet assessed uuid:976b6258-d8a7-11f1-ae73-e4fade41113c NCBIGene:8320 biolink:causes Orphanet:171703 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3372 infores:orphanet PMID:17353897 Assessed uuid:976b6259-d8a7-11f1-ae73-e4fade41113c NCBIGene:79048 biolink:causes Orphanet:171706 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30972 infores:orphanet PMID:16228000|PMID:19602558 Assessed uuid:976b625a-d8a7-11f1-ae73-e4fade41113c NCBIGene:83893 biolink:causes Orphanet:171709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29935 infores:orphanet PMID:17847006|PMID:22571172 Assessed uuid:976b625b-d8a7-11f1-ae73-e4fade41113c NCBIGene:283417 biolink:causes Orphanet:171709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19414 infores:orphanet PMID:21397063|PMID:22571172 Assessed uuid:976b625c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9463 biolink:causes Orphanet:171709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9394 infores:orphanet PMID:20562896|PMID:22571172 Assessed uuid:976b625d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57120 biolink:gene_associated_with_condition Orphanet:171709 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:17643 infores:orphanet PMID:22049801 Not yet assessed uuid:976b625e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5414 biolink:causes Orphanet:171709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9165 infores:orphanet PMID:36135717 Assessed loss_of_function_variant_form uuid:976b625f-d8a7-11f1-ae73-e4fade41113c NCBIGene:11055 biolink:causes Orphanet:171709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15662 infores:orphanet PMID:31985809 Assessed uuid:976b6260-d8a7-11f1-ae73-e4fade41113c NCBIGene:151254 biolink:causes Orphanet:171709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14438 infores:orphanet PMID:31985809 Assessed uuid:976b6261-d8a7-11f1-ae73-e4fade41113c NCBIGene:199720 biolink:causes Orphanet:171709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18869 infores:orphanet PMID:31985809 Assessed uuid:976b6262-d8a7-11f1-ae73-e4fade41113c NCBIGene:55012 biolink:causes Orphanet:171709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17485 infores:orphanet PMID:30893644 Assessed uuid:976b6263-d8a7-11f1-ae73-e4fade41113c NCBIGene:3851 biolink:causes Orphanet:171723 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6441 infores:orphanet PMID:10652003|PMID:12828738|PMID:23182699 Assessed uuid:976b6264-d8a7-11f1-ae73-e4fade41113c NCBIGene:3860 biolink:causes Orphanet:171723 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6415 infores:orphanet PMID:7493031|PMID:10561721|PMID:11379896|PMID:14600690 Assessed uuid:976b6265-d8a7-11f1-ae73-e4fade41113c NCBIGene:7846 biolink:causes Orphanet:171680 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20766 infores:orphanet PMID:18669490|PMID:18954413|PMID:22264709 Assessed uuid:976b6266-d8a7-11f1-ae73-e4fade41113c NCBIGene:6566 biolink:causes Orphanet:171690 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10922 infores:orphanet PMID:10590411 Assessed uuid:976b6267-d8a7-11f1-ae73-e4fade41113c NCBIGene:9197 biolink:causes Orphanet:171863 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:95 infores:orphanet PMID:19061983 Assessed uuid:976b6268-d8a7-11f1-ae73-e4fade41113c NCBIGene:4306 biolink:causes Orphanet:171871 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7979 infores:orphanet PMID:16757525|PMID:19571553 Assessed loss_of_function_variant_form uuid:976b6269-d8a7-11f1-ae73-e4fade41113c NCBIGene:176 biolink:causes Orphanet:171866 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:319 infores:orphanet PMID:19110214 Assessed uuid:976b626a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7169 biolink:causes Orphanet:171881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12011 infores:orphanet PMID:20301465|PMID:17846275 Assessed uuid:976b626b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7170 biolink:causes Orphanet:171881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12012 infores:orphanet PMID:20554445 Assessed uuid:976b626c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84665 biolink:causes Orphanet:171881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23246 infores:orphanet PMID:28220527 Assessed uuid:976b626d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55755 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18672 infores:orphanet Assessed uuid:976b626e-d8a7-11f1-ae73-e4fade41113c NCBIGene:55835 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17272 infores:orphanet Assessed uuid:976b626f-d8a7-11f1-ae73-e4fade41113c NCBIGene:259266 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19048 infores:orphanet Assessed uuid:976b6270-d8a7-11f1-ae73-e4fade41113c NCBIGene:79648 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6954 infores:orphanet Assessed uuid:976b6271-d8a7-11f1-ae73-e4fade41113c NCBIGene:6491 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10879 infores:orphanet Assessed uuid:976b6272-d8a7-11f1-ae73-e4fade41113c NCBIGene:284403 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24502 infores:orphanet Assessed uuid:976b6273-d8a7-11f1-ae73-e4fade41113c NCBIGene:22995 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29298 infores:orphanet Assessed uuid:976b6274-d8a7-11f1-ae73-e4fade41113c NCBIGene:9662 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29086 infores:orphanet Assessed uuid:976b6275-d8a7-11f1-ae73-e4fade41113c NCBIGene:57082 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24054 infores:orphanet Assessed uuid:976b6276-d8a7-11f1-ae73-e4fade41113c NCBIGene:1911 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3182 infores:orphanet Assessed uuid:976b6277-d8a7-11f1-ae73-e4fade41113c NCBIGene:1021 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1777 infores:orphanet PMID:23918663 Assessed uuid:976b6278-d8a7-11f1-ae73-e4fade41113c NCBIGene:1062 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1856 infores:orphanet PMID:24748105 Assessed uuid:976b6279-d8a7-11f1-ae73-e4fade41113c NCBIGene:163786 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25403 infores:orphanet PMID:24951542 Assessed uuid:976b627a-d8a7-11f1-ae73-e4fade41113c NCBIGene:84879 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25897 infores:orphanet PMID:26005865|PMID:26005868 Assessed loss_of_function_variant_form uuid:976b627b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9928 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19181 infores:orphanet PMID:28892560 Assessed uuid:976b627c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23141 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29101 infores:orphanet PMID:25259927 Assessed uuid:976b627d-d8a7-11f1-ae73-e4fade41113c NCBIGene:11113 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1985 infores:orphanet PMID:27453578 Assessed uuid:976b627e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6884 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11546 infores:orphanet PMID:28257693 Assessed uuid:976b627f-d8a7-11f1-ae73-e4fade41113c NCBIGene:29920 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30262 infores:orphanet PMID:27860360 Assessed uuid:976b6280-d8a7-11f1-ae73-e4fade41113c NCBIGene:6301 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10537 infores:orphanet PMID:35790048 Assessed uuid:976b6281-d8a7-11f1-ae73-e4fade41113c NCBIGene:7453 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12729 infores:orphanet PMID:35790048 Assessed uuid:976b6282-d8a7-11f1-ae73-e4fade41113c NCBIGene:9276 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2232 infores:orphanet PMID:29036432 Assessed uuid:976b6283-d8a7-11f1-ae73-e4fade41113c NCBIGene:23310 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28952 infores:orphanet PMID:27737959 Assessed uuid:976b6284-d8a7-11f1-ae73-e4fade41113c NCBIGene:79023 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29929 infores:orphanet PMID:30179222 Assessed uuid:976b6285-d8a7-11f1-ae73-e4fade41113c NCBIGene:55262 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25604 infores:orphanet PMID:30715179 Assessed uuid:976b6286-d8a7-11f1-ae73-e4fade41113c NCBIGene:29081 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25006 infores:orphanet PMID:31564433 Assessed uuid:976b6287-d8a7-11f1-ae73-e4fade41113c NCBIGene:7109 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11868 infores:orphanet PMID:35298461 Assessed uuid:976b6288-d8a7-11f1-ae73-e4fade41113c NCBIGene:4176 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6950 infores:orphanet PMID:34059554 Assessed uuid:976b6289-d8a7-11f1-ae73-e4fade41113c NCBIGene:10015 biolink:causes Orphanet:2512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8766 infores:orphanet PMID:32286682 Assessed uuid:976b628a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6337 biolink:causes Orphanet:171876 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10599 infores:orphanet PMID:19571553|PMID:23416952|PMID:23762408 Assessed loss_of_function_variant_form uuid:976b628b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6338 biolink:causes Orphanet:171876 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10600 infores:orphanet PMID:19571553|PMID:23426840 Assessed loss_of_function_variant_form uuid:976b628c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6340 biolink:causes Orphanet:171876 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10602 infores:orphanet PMID:11231969|PMID:19571553 Assessed loss_of_function_variant_form uuid:976b628d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:contributes_to Orphanet:797 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:22991420 Assessed uuid:976b628e-d8a7-11f1-ae73-e4fade41113c NCBIGene:56244 biolink:contributes_to Orphanet:797 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1142 infores:orphanet PMID:15735647 Assessed uuid:976b628f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6492 biolink:gene_associated_with_condition Orphanet:171829 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:10882 infores:orphanet PMID:24038875 Assessed uuid:976b6290-d8a7-11f1-ae73-e4fade41113c NCBIGene:1174 biolink:causes Orphanet:171851 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:559 infores:orphanet PMID:19057675 Assessed loss_of_function_variant_form uuid:976b6291-d8a7-11f1-ae73-e4fade41113c NCBIGene:162 biolink:causes Orphanet:171851 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:554 infores:orphanet PMID:31630791 Assessed loss_of_function_variant_form uuid:976b6292-d8a7-11f1-ae73-e4fade41113c NCBIGene:26090 biolink:causes Orphanet:171848 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15868 infores:orphanet PMID:20797687 Assessed uuid:976b6293-d8a7-11f1-ae73-e4fade41113c NCBIGene:6899 biolink:gene_associated_with_condition Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11592 infores:orphanet PMID:20937753 Not yet assessed uuid:976b6294-d8a7-11f1-ae73-e4fade41113c NCBIGene:23414 biolink:contributes_to Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16700 infores:orphanet PMID:24702427|PMID:14517948 Assessed uuid:976b6295-d8a7-11f1-ae73-e4fade41113c NCBIGene:2324 biolink:causes Orphanet:3303 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3767 infores:orphanet PMID:30232381 Assessed loss_of_function_variant_form uuid:976b6296-d8a7-11f1-ae73-e4fade41113c NCBIGene:2626 biolink:causes Orphanet:3303 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4173 infores:orphanet PMID:24000169 Assessed loss_of_function_variant_form uuid:976b6297-d8a7-11f1-ae73-e4fade41113c NCBIGene:182 biolink:causes Orphanet:3303 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6188 infores:orphanet PMID:21893051 Assessed uuid:976b6298-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:gene_associated_with_condition Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2488 infores:orphanet PMID:29045289 Assessed uuid:976b6299-d8a7-11f1-ae73-e4fade41113c NCBIGene:2702 biolink:contributes_to Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4279 infores:orphanet PMID:22713807 Assessed uuid:976b629a-d8a7-11f1-ae73-e4fade41113c NCBIGene:137814 biolink:contributes_to Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:32940 infores:orphanet PMID:25195019 Assessed uuid:976b629b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2657 biolink:gene_associated_with_condition Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4214 infores:orphanet Not yet assessed uuid:976b629c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3791 biolink:contributes_to Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6307 infores:orphanet PMID:34113005 Assessed uuid:976b629d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10370 biolink:gene_associated_with_condition Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1987 infores:orphanet Not yet assessed uuid:976b629e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2627 biolink:gene_associated_with_condition Orphanet:3303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4174 infores:orphanet PMID:20581743 Not yet assessed uuid:976b629f-d8a7-11f1-ae73-e4fade41113c NCBIGene:140628 biolink:causes Orphanet:3303 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15802 infores:orphanet PMID:23289003 Assessed loss_of_function_variant_form uuid:976b62a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3426 biolink:causes Orphanet:200418 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5394 infores:orphanet Assessed uuid:976b62a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5310 biolink:causes Orphanet:730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9008 infores:orphanet PMID:20301424 Assessed uuid:976b62a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5311 biolink:causes Orphanet:730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9009 infores:orphanet PMID:20301424 Assessed uuid:976b62a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:79796 biolink:causes Orphanet:730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15672 infores:orphanet PMID:31395617 Assessed loss_of_function_variant_form uuid:976b62a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:284086 biolink:causes Orphanet:730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13387 infores:orphanet PMID:37598857 Assessed uuid:976b62a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:80114 biolink:gene_associated_with_condition Orphanet:730 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:19351 infores:orphanet PMID:21922595 Not yet assessed uuid:976b62a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:9742 biolink:causes Orphanet:730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29077 infores:orphanet PMID:34890546 Assessed loss_of_function_variant_form uuid:976b62a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:23193 biolink:causes Orphanet:730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4138 infores:orphanet PMID:27259053 Assessed uuid:976b62a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:51726 biolink:causes Orphanet:730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14889 infores:orphanet PMID:29706351 Assessed loss_of_function_variant_form uuid:976b62a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:29880 biolink:causes Orphanet:730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20266 infores:orphanet PMID:35896117 Assessed uuid:976b62aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:3075 biolink:causes Orphanet:200421 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4883 infores:orphanet Assessed uuid:976b62ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:10312 biolink:causes Orphanet:486 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11647 infores:orphanet PMID:24753205 Assessed uuid:976b62ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:1991 biolink:causes Orphanet:486 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3309 infores:orphanet Assessed uuid:976b62ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:2672 biolink:causes Orphanet:486 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4237 infores:orphanet PMID:12778173 Assessed uuid:976b62ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:81570 biolink:causes Orphanet:486 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30664 infores:orphanet PMID:34115842 Assessed loss_of_function_variant_form uuid:976b62af-d8a7-11f1-ae73-e4fade41113c NCBIGene:6728 biolink:causes Orphanet:486 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11300 infores:orphanet PMID:36223592 Assessed uuid:976b62b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:26278 biolink:causes Orphanet:98 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10519 infores:orphanet PMID:20301432 Assessed uuid:976b62b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2161 biolink:causes Orphanet:330 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3530 infores:orphanet PMID:20386432|PMID:22043782 Assessed uuid:976b62b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9531 biolink:causes Orphanet:199340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:939 infores:orphanet PMID:19085932 Assessed uuid:976b62b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:84701 biolink:causes Orphanet:199337 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16232 infores:orphanet Assessed uuid:976b62b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1244 biolink:causes Orphanet:234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:53 infores:orphanet Assessed uuid:976b62b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3106 biolink:contributes_to Orphanet:3287 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4932 infores:orphanet PMID:23830516|PMID:23830507 Assessed uuid:976b62b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3593 biolink:contributes_to Orphanet:3287 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5970 infores:orphanet PMID:23830516|PMID:23830507 Assessed uuid:976b62b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6945 biolink:contributes_to Orphanet:3287 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11645 infores:orphanet PMID:23830516|PMID:23830507 Assessed uuid:976b62b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:80704 biolink:causes Orphanet:199348 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16266 infores:orphanet PMID:19387023 Assessed uuid:976b62b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2064 biolink:causes Orphanet:2800 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3430 infores:orphanet PMID:31860417 Assessed uuid:976b62ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:3766 biolink:causes Orphanet:199343 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6256 infores:orphanet PMID:19289823|PMID:20301317 Assessed uuid:976b62bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3736 biolink:causes Orphanet:199326 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6218 infores:orphanet PMID:19307729 Assessed uuid:976b62bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:22858 biolink:causes Orphanet:199332 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21219 infores:orphanet PMID:19185282 Assessed uuid:976b62bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:8291 biolink:causes Orphanet:199329 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3097 infores:orphanet PMID:19084402 Assessed uuid:976b62be-d8a7-11f1-ae73-e4fade41113c NCBIGene:2120 biolink:gene_associated_with_condition Orphanet:2665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3495 infores:orphanet PMID:12165445|PMID:16681692 Assessed uuid:976b62bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:4916 biolink:gene_associated_with_condition Orphanet:2665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8033 infores:orphanet PMID:12165445|PMID:16681692 Assessed uuid:976b62c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:7466 biolink:causes Orphanet:3463 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12762 infores:orphanet PMID:16806192|PMID:12913071 Assessed loss_of_function_variant_form uuid:976b62c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:493856 biolink:causes Orphanet:3463 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24212 infores:orphanet Assessed uuid:976b62c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5654 biolink:causes Orphanet:199354 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9476 infores:orphanet PMID:20437615|PMID:22900900|PMID:21482952|PMID:21115960|PMID:19387015 Assessed uuid:976b62c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8398 biolink:causes Orphanet:199351 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9039 infores:orphanet Assessed uuid:976b62c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5621 biolink:causes Orphanet:356 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9449 infores:orphanet PMID:20301407 Assessed uuid:976b62c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5621 biolink:causes Orphanet:466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9449 infores:orphanet PMID:20301407 Assessed uuid:976b62c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:920 biolink:contributes_to Orphanet:3452 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1678 infores:orphanet PMID:38557723 Assessed uuid:976b62c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3662 biolink:contributes_to Orphanet:3452 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6119 infores:orphanet PMID:29537367 Assessed uuid:976b62c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:53630 biolink:causes Orphanet:199285 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13815 infores:orphanet PMID:17951468 Assessed loss_of_function_variant_form uuid:976b62c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2643 biolink:causes Orphanet:2102 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4193 infores:orphanet Assessed uuid:976b62ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:9103 biolink:gene_associated_with_condition Orphanet:3002 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:15626 infores:orphanet PMID:17827395 Not yet assessed uuid:976b62cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1139 biolink:gene_associated_with_condition Orphanet:199318 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:1960 infores:orphanet PMID:22775350 Assessed uuid:976b62cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2811 biolink:causes Orphanet:274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4439 infores:orphanet PMID:22886561 Assessed uuid:976b62cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2812 biolink:causes Orphanet:274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4440 infores:orphanet PMID:22886561 Assessed uuid:976b62ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:2815 biolink:causes Orphanet:274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4444 infores:orphanet PMID:22886561 Assessed uuid:976b62cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:7018 biolink:causes Orphanet:1195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11740 infores:orphanet Assessed uuid:976b62d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5818 biolink:contributes_to Orphanet:199302 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9706 infores:orphanet PMID:16674562 Assessed uuid:976b62d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:contributes_to Orphanet:199302 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15979 infores:orphanet PMID:16740912|PMID:21567929 Assessed uuid:976b62d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3664 biolink:contributes_to Orphanet:199302 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6121 infores:orphanet PMID:17438386 Assessed uuid:976b62d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4487 biolink:contributes_to Orphanet:199302 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7391 infores:orphanet PMID:12807959 Assessed uuid:976b62d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6882 biolink:causes Orphanet:199302 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11544 infores:orphanet PMID:39727181 Assessed uuid:976b62d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5818 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9706 infores:orphanet PMID:16674562 Assessed uuid:976b62d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:999 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1748 infores:orphanet PMID:23197654 Assessed uuid:976b62d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15979 infores:orphanet PMID:16740912|PMID:21567929 Assessed uuid:976b62d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3664 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6121 infores:orphanet PMID:17438386 Assessed uuid:976b62d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4487 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7391 infores:orphanet PMID:12807959 Assessed uuid:976b62da-d8a7-11f1-ae73-e4fade41113c NCBIGene:5156 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:8803 infores:orphanet PMID:35147171 Assessed uuid:976b62db-d8a7-11f1-ae73-e4fade41113c NCBIGene:652 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1071 infores:orphanet PMID:22978696 Assessed uuid:976b62dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1748 biolink:causes Orphanet:199306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2917 infores:orphanet PMID:25954033 Assessed uuid:976b62dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1739 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2900 infores:orphanet PMID:28926086 Assessed uuid:976b62de-d8a7-11f1-ae73-e4fade41113c NCBIGene:9411 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:30207 infores:orphanet PMID:27350171 Assessed uuid:976b62df-d8a7-11f1-ae73-e4fade41113c NCBIGene:57589 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17686 infores:orphanet PMID:36493769 Assessed uuid:976b62e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:22837 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:23571 infores:orphanet PMID:36493769 Assessed uuid:976b62e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:54848 biolink:contributes_to Orphanet:199306 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25968 infores:orphanet PMID:36493769 Assessed uuid:976b62e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:847 biolink:causes Orphanet:926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1516 infores:orphanet PMID:11001624 Assessed uuid:976b62e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:9095 biolink:causes Orphanet:199296 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11596 infores:orphanet PMID:15476446|PMID:15613420 Assessed uuid:976b62e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1806 biolink:causes Orphanet:1675 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3012 infores:orphanet Assessed uuid:976b62e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:189427 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4392 infores:orphanet PMID:12727968 Assessed uuid:976b62e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:79798 biolink:causes Orphanet:189427 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25781 infores:orphanet PMID:24283224 Assessed uuid:976b62e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:23028 biolink:contributes_to Orphanet:189427 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:29079 infores:orphanet PMID:34906447 Assessed uuid:976b62e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:353 biolink:causes Orphanet:976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:626 infores:orphanet PMID:22934314|PMID:22700886 Assessed loss_of_function_variant_form uuid:976b62e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1757 biolink:causes Orphanet:3129 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10536 infores:orphanet PMID:22825317 Assessed uuid:976b62ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:10166 biolink:causes Orphanet:415 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10985 infores:orphanet PMID:22649802 Assessed loss_of_function_variant_form uuid:976b62eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5805 biolink:causes Orphanet:13 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9689 infores:orphanet Assessed uuid:976b62ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:6925 biolink:contributes_to Orphanet:171 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11634 infores:orphanet PMID:22821403 Assessed uuid:976b62ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:2859 biolink:contributes_to Orphanet:171 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4492 infores:orphanet PMID:22821403 Assessed uuid:976b62ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:4485 biolink:contributes_to Orphanet:171 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7380 infores:orphanet PMID:21151127 Assessed uuid:976b62ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:10507 biolink:causes Orphanet:171 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10732 infores:orphanet PMID:33627483 Assessed uuid:976b62f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:866 biolink:causes Orphanet:199247 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1540 infores:orphanet PMID:12780753 Assessed uuid:976b62f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:440275 biolink:causes Orphanet:199241 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19687 infores:orphanet PMID:24135949 Assessed loss_of_function_variant_form uuid:976b62f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5741 biolink:causes Orphanet:189466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9606 infores:orphanet PMID:2212001|PMID:10523031|PMID:22722080 Assessed uuid:976b62f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:326 biolink:causes Orphanet:189466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:360 infores:orphanet PMID:28323927 Assessed uuid:976b62f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:8802 biolink:causes Orphanet:17 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11449 infores:orphanet PMID:19526370|PMID:21639866 Assessed uuid:976b62f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:501 biolink:causes Orphanet:3006 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:877 infores:orphanet PMID:20301659 Assessed uuid:976b62f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:11212 biolink:causes Orphanet:3006 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9457 infores:orphanet PMID:27912044 Assessed uuid:976b62f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10599 biolink:causes Orphanet:3111 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10959 infores:orphanet PMID:22232210|PMID:23236639 Assessed uuid:976b62f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:28234 biolink:causes Orphanet:3111 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10961 infores:orphanet PMID:22232210|PMID:23236639 Assessed uuid:976b62f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6323 biolink:causes Orphanet:2382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10585 infores:orphanet PMID:17347258|PMID:20301494|PMID:19782004 Assessed uuid:976b62fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:773 biolink:causes Orphanet:2382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1388 infores:orphanet PMID:31468518 Assessed loss_of_function_variant_form uuid:976b62fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:773 biolink:causes Orphanet:2382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1388 infores:orphanet PMID:31468518 Assessed gain_of_function_variant_form uuid:976b62fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2562 biolink:causes Orphanet:2382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4083 infores:orphanet PMID:23934111|PMID:27476654 Assessed uuid:976b62fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5602 biolink:gene_associated_with_condition Orphanet:2382 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6872 infores:orphanet PMID:16249883 Not yet assessed uuid:976b62fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:1106 biolink:causes Orphanet:2382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1917 infores:orphanet PMID:23708187 Assessed uuid:976b62ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:1759 biolink:causes Orphanet:2382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2972 infores:orphanet PMID:25262651|PMID:25533962 Assessed uuid:976b6300-d8a7-11f1-ae73-e4fade41113c NCBIGene:23316 biolink:causes Orphanet:2382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19347 infores:orphanet PMID:29630738 Assessed uuid:976b6301-d8a7-11f1-ae73-e4fade41113c NCBIGene:9211 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6572 infores:orphanet PMID:41000458|PMID:40455867 Assessed uuid:976b6302-d8a7-11f1-ae73-e4fade41113c NCBIGene:6324 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10586 infores:orphanet PMID:28218389 Assessed uuid:976b6303-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10588 infores:orphanet PMID:23550958|PMID:23935176 Assessed gain_of_function_variant_form uuid:976b6304-d8a7-11f1-ae73-e4fade41113c NCBIGene:79751 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19954 infores:orphanet PMID:19780765 Assessed uuid:976b6305-d8a7-11f1-ae73-e4fade41113c NCBIGene:6792 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11411 infores:orphanet PMID:22196487|PMID:22787626 Assessed uuid:976b6306-d8a7-11f1-ae73-e4fade41113c NCBIGene:170302 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18060 infores:orphanet PMID:22196487|PMID:20506206|PMID:22787626 Assessed uuid:976b6307-d8a7-11f1-ae73-e4fade41113c NCBIGene:3736 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6218 infores:orphanet PMID:30055040 Assessed uuid:976b6308-d8a7-11f1-ae73-e4fade41113c NCBIGene:8573 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1497 infores:orphanet PMID:24278995|PMID:22709267 Assessed loss_of_function_variant_form uuid:976b6309-d8a7-11f1-ae73-e4fade41113c NCBIGene:11284 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9154 infores:orphanet PMID:20118933 Assessed uuid:976b630a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2902 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4584 infores:orphanet PMID:34611970 Assessed loss_of_function_variant_form uuid:976b630b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2775 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4389 infores:orphanet PMID:23993195 Assessed uuid:976b630c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9091 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14135 infores:orphanet PMID:24463883 Assessed loss_of_function_variant_form uuid:976b630d-d8a7-11f1-ae73-e4fade41113c NCBIGene:150094 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11142 infores:orphanet PMID:25839329 Assessed uuid:976b630e-d8a7-11f1-ae73-e4fade41113c NCBIGene:23312 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2938 infores:orphanet PMID:31688942 Assessed uuid:976b630f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51227 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3046 infores:orphanet PMID:28334793 Assessed uuid:976b6310-d8a7-11f1-ae73-e4fade41113c NCBIGene:81603 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15579 infores:orphanet PMID:30244534 Assessed uuid:976b6311-d8a7-11f1-ae73-e4fade41113c NCBIGene:4761 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7763 infores:orphanet PMID:30323019 Assessed uuid:976b6312-d8a7-11f1-ae73-e4fade41113c NCBIGene:2917 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4599 infores:orphanet PMID:34273994 Assessed uuid:976b6313-d8a7-11f1-ae73-e4fade41113c NCBIGene:140679 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11018 infores:orphanet PMID:36073542 Assessed uuid:976b6314-d8a7-11f1-ae73-e4fade41113c NCBIGene:23221 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18756 infores:orphanet PMID:29276004|PMID:39831600 Assessed uuid:976b6315-d8a7-11f1-ae73-e4fade41113c NCBIGene:777 biolink:causes Orphanet:1934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1392 infores:orphanet PMID:30343943 Assessed uuid:976b6316-d8a7-11f1-ae73-e4fade41113c NCBIGene:6323 biolink:causes Orphanet:1942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10585 infores:orphanet PMID:21396429 Assessed uuid:976b6317-d8a7-11f1-ae73-e4fade41113c NCBIGene:340533 biolink:causes Orphanet:1942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29433 infores:orphanet PMID:32469098 Assessed uuid:976b6318-d8a7-11f1-ae73-e4fade41113c NCBIGene:6513 biolink:causes Orphanet:1942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11005 infores:orphanet PMID:21555602|PMID:31170314 Assessed uuid:976b6319-d8a7-11f1-ae73-e4fade41113c NCBIGene:8831 biolink:causes Orphanet:1942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11497 infores:orphanet PMID:32469098 Assessed uuid:976b631a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1106 biolink:causes Orphanet:1942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1917 infores:orphanet PMID:23708187 Assessed uuid:976b631b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6529 biolink:causes Orphanet:1942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11042 infores:orphanet PMID:25865495 Assessed loss_of_function_variant_form uuid:976b631c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1173 biolink:causes Orphanet:1942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:564 infores:orphanet PMID:31104773 Assessed uuid:976b631d-d8a7-11f1-ae73-e4fade41113c NCBIGene:825 biolink:causes Orphanet:267 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1480 infores:orphanet PMID:20301582 Assessed uuid:976b631e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3594 biolink:gene_associated_with_condition Orphanet:186 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5971 infores:orphanet Not yet assessed uuid:976b631f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6689 biolink:gene_associated_with_condition Orphanet:186 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11242 infores:orphanet Not yet assessed uuid:976b6320-d8a7-11f1-ae73-e4fade41113c NCBIGene:3592 biolink:gene_associated_with_condition Orphanet:186 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5969 infores:orphanet Not yet assessed uuid:976b6321-d8a7-11f1-ae73-e4fade41113c NCBIGene:3663 biolink:gene_associated_with_condition Orphanet:186 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6120 infores:orphanet Not yet assessed uuid:976b6322-d8a7-11f1-ae73-e4fade41113c NCBIGene:23534 biolink:gene_associated_with_condition Orphanet:186 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17103 infores:orphanet Not yet assessed uuid:976b6323-d8a7-11f1-ae73-e4fade41113c NCBIGene:79258 biolink:gene_associated_with_condition Orphanet:186 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:14668 infores:orphanet Not yet assessed uuid:976b6324-d8a7-11f1-ae73-e4fade41113c NCBIGene:9966 biolink:contributes_to Orphanet:186 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11931 infores:orphanet PMID:23000144 Assessed uuid:976b6325-d8a7-11f1-ae73-e4fade41113c NCBIGene:5450 biolink:contributes_to Orphanet:186 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9211 infores:orphanet PMID:23000144 Assessed uuid:976b6326-d8a7-11f1-ae73-e4fade41113c NCBIGene:3106 biolink:contributes_to Orphanet:397 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4932 infores:orphanet PMID:33734973 Assessed uuid:976b6327-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:contributes_to Orphanet:397 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:26223536 Assessed uuid:976b6328-d8a7-11f1-ae73-e4fade41113c NCBIGene:26191 biolink:contributes_to Orphanet:397 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9652 infores:orphanet PMID:23946333 Assessed uuid:976b6329-d8a7-11f1-ae73-e4fade41113c NCBIGene:8974 biolink:contributes_to Orphanet:397 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:8547 infores:orphanet PMID:28041642 Assessed uuid:976b632a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9927 biolink:causes Orphanet:2398 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16877 infores:orphanet PMID:26085578 Assessed loss_of_function_variant_form uuid:976b632b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2153 biolink:gene_associated_with_condition Orphanet:131 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3542 infores:orphanet PMID:24755609|PMID:26238013 Not yet assessed uuid:976b632c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3717 biolink:gene_associated_with_condition Orphanet:131 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6192 infores:orphanet PMID:26557140 Not yet assessed uuid:976b632d-d8a7-11f1-ae73-e4fade41113c NCBIGene:811 biolink:gene_associated_with_condition Orphanet:131 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1455 infores:orphanet PMID:28483676 Not yet assessed uuid:976b632e-d8a7-11f1-ae73-e4fade41113c NCBIGene:11281 biolink:contributes_to Orphanet:654 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:21694 infores:orphanet Assessed uuid:976b632f-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:gene_associated_with_condition Orphanet:654 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1101 infores:orphanet PMID:15689453 Not yet assessed uuid:976b6330-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:causes Orphanet:654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12796 infores:orphanet Assessed uuid:976b6331-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:contributes_to Orphanet:654 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12796 infores:orphanet Assessed uuid:976b6332-d8a7-11f1-ae73-e4fade41113c NCBIGene:2719 biolink:gene_associated_with_condition Orphanet:654 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:4451 infores:orphanet PMID:12085187|PMID:25366870 Assessed uuid:976b6333-d8a7-11f1-ae73-e4fade41113c NCBIGene:283120 biolink:gene_associated_with_condition Orphanet:654 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4713 infores:orphanet Assessed uuid:976b6334-d8a7-11f1-ae73-e4fade41113c NCBIGene:129563 biolink:contributes_to Orphanet:654 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:28648 infores:orphanet Assessed uuid:976b6335-d8a7-11f1-ae73-e4fade41113c NCBIGene:5978 biolink:contributes_to Orphanet:654 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9966 infores:orphanet PMID:26551668 Assessed uuid:976b6336-d8a7-11f1-ae73-e4fade41113c NCBIGene:9319 biolink:causes Orphanet:654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12307 infores:orphanet PMID:28553959 Assessed loss_of_function_variant_form uuid:976b6337-d8a7-11f1-ae73-e4fade41113c NCBIGene:10155 biolink:causes Orphanet:654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16384 infores:orphanet PMID:29912901 Assessed uuid:976b6338-d8a7-11f1-ae73-e4fade41113c NCBIGene:10155 biolink:causes Orphanet:654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:16384 infores:orphanet PMID:29912901 Assessed uuid:976b6339-d8a7-11f1-ae73-e4fade41113c NCBIGene:9646 biolink:causes Orphanet:654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16850 infores:orphanet PMID:39293508|PMID:25099282 Assessed uuid:976b633a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4353 biolink:causes Orphanet:2587 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7218 infores:orphanet PMID:7904599 Assessed uuid:976b633b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79092 biolink:causes Orphanet:2897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16446 infores:orphanet PMID:22703878 Assessed uuid:976b633c-d8a7-11f1-ae73-e4fade41113c NCBIGene:54658 biolink:gene_associated_with_condition Orphanet:2312 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12530 infores:orphanet PMID:23014115 Not yet assessed uuid:976b633d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5880 biolink:causes Orphanet:183707 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9802 infores:orphanet PMID:10758162 Assessed uuid:976b633e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6774 biolink:causes Orphanet:2314 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11364 infores:orphanet PMID:17881745|PMID:17676033 Assessed uuid:976b633f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3501 biolink:causes Orphanet:183675 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5526 infores:orphanet PMID:9449702 Assessed uuid:976b6340-d8a7-11f1-ae73-e4fade41113c NCBIGene:3514 biolink:causes Orphanet:183675 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5716 infores:orphanet Assessed uuid:976b6341-d8a7-11f1-ae73-e4fade41113c NCBIGene:54820 biolink:causes Orphanet:2177 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17619 infores:orphanet PMID:22526350 Assessed uuid:976b6342-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:2380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:17394019|PMID:18512791 Assessed uuid:976b6343-d8a7-11f1-ae73-e4fade41113c NCBIGene:6663 biolink:causes Orphanet:897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11190 infores:orphanet PMID:22378281|PMID:24311220 Assessed uuid:976b6344-d8a7-11f1-ae73-e4fade41113c NCBIGene:1908 biolink:causes Orphanet:897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3178 infores:orphanet PMID:19764030 Assessed uuid:976b6345-d8a7-11f1-ae73-e4fade41113c NCBIGene:1910 biolink:causes Orphanet:897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3180 infores:orphanet Assessed uuid:976b6346-d8a7-11f1-ae73-e4fade41113c NCBIGene:4286 biolink:causes Orphanet:897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7105 infores:orphanet PMID:30612693 Assessed uuid:976b6347-d8a7-11f1-ae73-e4fade41113c NCBIGene:545 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:882 infores:orphanet PMID:12640452 Assessed uuid:976b6348-d8a7-11f1-ae73-e4fade41113c NCBIGene:55835 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17272 infores:orphanet PMID:20522431 Assessed uuid:976b6349-d8a7-11f1-ae73-e4fade41113c NCBIGene:5116 biolink:gene_associated_with_condition Orphanet:808 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16068 infores:orphanet PMID:19643772 Not yet assessed uuid:976b634a-d8a7-11f1-ae73-e4fade41113c NCBIGene:22995 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29298 infores:orphanet PMID:21131973 Assessed uuid:976b634b-d8a7-11f1-ae73-e4fade41113c NCBIGene:80254 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25815 infores:orphanet PMID:21983783 Assessed uuid:976b634c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5932 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9891 infores:orphanet PMID:21998596 Assessed uuid:976b634d-d8a7-11f1-ae73-e4fade41113c NCBIGene:84126 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33499 infores:orphanet PMID:23144622|PMID:20301772 Assessed uuid:976b634e-d8a7-11f1-ae73-e4fade41113c NCBIGene:51199 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14906 infores:orphanet PMID:22933543 Assessed uuid:976b634f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1763 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2939 infores:orphanet PMID:24389050 Assessed uuid:976b6350-d8a7-11f1-ae73-e4fade41113c NCBIGene:1062 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1856 infores:orphanet PMID:24748105 Assessed uuid:976b6351-d8a7-11f1-ae73-e4fade41113c NCBIGene:10733 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11397 infores:orphanet PMID:25344692|PMID:25320347 Assessed loss_of_function_variant_form uuid:976b6352-d8a7-11f1-ae73-e4fade41113c NCBIGene:286053 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26513 infores:orphanet PMID:25105364 Assessed uuid:976b6353-d8a7-11f1-ae73-e4fade41113c NCBIGene:10293 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30764 infores:orphanet PMID:26595769 Assessed loss_of_function_variant_form uuid:976b6354-d8a7-11f1-ae73-e4fade41113c NCBIGene:79902 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8734 infores:orphanet PMID:34170319 Assessed uuid:976b6355-d8a7-11f1-ae73-e4fade41113c NCBIGene:85459 biolink:causes Orphanet:808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29366 infores:orphanet PMID:38154379 Assessed uuid:976b6356-d8a7-11f1-ae73-e4fade41113c NCBIGene:81839 biolink:contributes_to Orphanet:3027 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15512 infores:orphanet PMID:17409324 Assessed uuid:976b6357-d8a7-11f1-ae73-e4fade41113c NCBIGene:80199 biolink:causes Orphanet:3027 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26219 infores:orphanet PMID:21840926 Assessed uuid:976b6358-d8a7-11f1-ae73-e4fade41113c NCBIGene:5644 biolink:causes Orphanet:676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9475 infores:orphanet PMID:23864476|PMID:22379635 Assessed gain_of_function_variant_form uuid:976b6359-d8a7-11f1-ae73-e4fade41113c NCBIGene:846 biolink:gene_associated_with_condition Orphanet:676 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1514 infores:orphanet PMID:26166472 Not yet assessed uuid:976b635a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5645 biolink:gene_associated_with_condition Orphanet:676 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9483 infores:orphanet PMID:18461367 Not yet assessed uuid:976b635b-d8a7-11f1-ae73-e4fade41113c NCBIGene:11330 biolink:gene_associated_with_condition Orphanet:676 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2523 infores:orphanet PMID:18059268|PMID:23601753|PMID:22539344 Not yet assessed uuid:976b635c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1357 biolink:contributes_to Orphanet:676 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2296 infores:orphanet PMID:23955596|PMID:24522117 Assessed uuid:976b635d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55503 biolink:contributes_to Orphanet:676 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:14006 infores:orphanet PMID:31930989 Assessed uuid:976b635e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8139 biolink:causes Orphanet:643 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4137 infores:orphanet PMID:20301315 Assessed uuid:976b635f-d8a7-11f1-ae73-e4fade41113c NCBIGene:11005 biolink:causes Orphanet:634 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15464 infores:orphanet PMID:10835624 Assessed uuid:976b6360-d8a7-11f1-ae73-e4fade41113c NCBIGene:6662 biolink:causes Orphanet:140 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11204 infores:orphanet PMID:22051515|PMID:20301724 Assessed loss_of_function_variant_form uuid:976b6361-d8a7-11f1-ae73-e4fade41113c NCBIGene:65018 biolink:causes Orphanet:2828 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14581 infores:orphanet PMID:22166458 Assessed uuid:976b6362-d8a7-11f1-ae73-e4fade41113c NCBIGene:6622 biolink:gene_associated_with_condition Orphanet:2828 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11138 infores:orphanet PMID:17489854|PMID:18704525|PMID:20013014|PMID:24768741 Not yet assessed uuid:976b6363-d8a7-11f1-ae73-e4fade41113c NCBIGene:7345 biolink:gene_associated_with_condition Orphanet:2828 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12513 infores:orphanet Not yet assessed uuid:976b6364-d8a7-11f1-ae73-e4fade41113c NCBIGene:27429 biolink:gene_associated_with_condition Orphanet:2828 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:14348 infores:orphanet PMID:21701785 Not yet assessed uuid:976b6365-d8a7-11f1-ae73-e4fade41113c NCBIGene:120892 biolink:gene_associated_with_condition Orphanet:2828 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:18618 infores:orphanet PMID:22166458 Not yet assessed uuid:976b6366-d8a7-11f1-ae73-e4fade41113c NCBIGene:5071 biolink:causes Orphanet:2828 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8607 infores:orphanet PMID:22166458 Assessed uuid:976b6367-d8a7-11f1-ae73-e4fade41113c NCBIGene:11315 biolink:causes Orphanet:2828 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16369 infores:orphanet PMID:22166458 Assessed uuid:976b6368-d8a7-11f1-ae73-e4fade41113c NCBIGene:9829 biolink:causes Orphanet:2828 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15469 infores:orphanet PMID:26528954 Assessed loss_of_function_variant_form uuid:976b6369-d8a7-11f1-ae73-e4fade41113c NCBIGene:8867 biolink:causes Orphanet:2828 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11503 infores:orphanet PMID:23804577|PMID:23804563 Assessed uuid:976b636a-d8a7-11f1-ae73-e4fade41113c NCBIGene:54832 biolink:causes Orphanet:2828 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23594 infores:orphanet PMID:26942284 Assessed loss_of_function_variant_form uuid:976b636b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5420 biolink:causes Orphanet:2828 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9171 infores:orphanet PMID:26864383 Assessed loss_of_function_variant_form uuid:976b636c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4914 biolink:causes Orphanet:642 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8031 infores:orphanet PMID:20301726 Assessed loss_of_function_variant_form uuid:976b636d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4810 biolink:causes Orphanet:627 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7820 infores:orphanet PMID:20332100 Assessed uuid:976b636e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5605 biolink:causes Orphanet:638 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6842 infores:orphanet PMID:24311457 Assessed uuid:976b636f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:causes Orphanet:638 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7765 infores:orphanet PMID:22847776 Assessed uuid:976b6370-d8a7-11f1-ae73-e4fade41113c NCBIGene:2153 biolink:causes Orphanet:326 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3542 infores:orphanet Assessed uuid:976b6371-d8a7-11f1-ae73-e4fade41113c NCBIGene:6337 biolink:causes Orphanet:526 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10599 infores:orphanet PMID:28710092 Assessed gain_of_function_variant_form uuid:976b6372-d8a7-11f1-ae73-e4fade41113c NCBIGene:6338 biolink:causes Orphanet:526 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10600 infores:orphanet Assessed gain_of_function_variant_form uuid:976b6373-d8a7-11f1-ae73-e4fade41113c NCBIGene:6340 biolink:causes Orphanet:526 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10602 infores:orphanet Assessed gain_of_function_variant_form uuid:976b6374-d8a7-11f1-ae73-e4fade41113c NCBIGene:4210 biolink:causes Orphanet:342 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6998 infores:orphanet Assessed uuid:976b6375-d8a7-11f1-ae73-e4fade41113c NCBIGene:1121 biolink:causes Orphanet:180 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1940 infores:orphanet Assessed uuid:976b6376-d8a7-11f1-ae73-e4fade41113c NCBIGene:2155 biolink:causes Orphanet:327 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3544 infores:orphanet Assessed uuid:976b6377-d8a7-11f1-ae73-e4fade41113c NCBIGene:2719 biolink:causes Orphanet:373 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4451 infores:orphanet PMID:10814714|PMID:20301398 Assessed loss_of_function_variant_form uuid:976b6378-d8a7-11f1-ae73-e4fade41113c NCBIGene:2239 biolink:gene_associated_with_condition Orphanet:373 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4452 infores:orphanet PMID:21082656|PMID:20301398 Not yet assessed uuid:976b6379-d8a7-11f1-ae73-e4fade41113c NCBIGene:1584 biolink:gene_associated_with_condition Orphanet:403 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2591 infores:orphanet PMID:24817817|PMID:20634641 Assessed uuid:976b637a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1585 biolink:gene_associated_with_condition Orphanet:403 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2592 infores:orphanet PMID:24817817|PMID:20634641 Assessed uuid:976b637b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5468 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9236 infores:orphanet PMID:10958784|PMID:25069464|PMID:25708358|PMID:17891228 Assessed uuid:976b637c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9967 infores:orphanet PMID:25407564|PMID:17891228 Assessed uuid:976b637d-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:12670889|PMID:17891228|PMID:25702102 Assessed uuid:976b637e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8030 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:18782 infores:orphanet PMID:25407564 Assessed uuid:976b637f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10342 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11758 infores:orphanet PMID:9172002|PMID:9169129 Assessed uuid:976b6380-d8a7-11f1-ae73-e4fade41113c NCBIGene:7175 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12017 infores:orphanet PMID:9172002|PMID:1532241 Assessed uuid:976b6381-d8a7-11f1-ae73-e4fade41113c NCBIGene:8805 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11812 infores:orphanet PMID:10439047|PMID:17062879 Assessed uuid:976b6382-d8a7-11f1-ae73-e4fade41113c NCBIGene:5987 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9975 infores:orphanet PMID:12787916|PMID:17062879 Assessed uuid:976b6383-d8a7-11f1-ae73-e4fade41113c NCBIGene:51592 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:16290 infores:orphanet PMID:10439047|PMID:17062879 Assessed uuid:976b6384-d8a7-11f1-ae73-e4fade41113c NCBIGene:23085 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:17072 infores:orphanet PMID:10337992 Assessed uuid:976b6385-d8a7-11f1-ae73-e4fade41113c NCBIGene:2304 biolink:contributes_to Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3806 infores:orphanet PMID:21730105 Assessed uuid:976b6386-d8a7-11f1-ae73-e4fade41113c NCBIGene:9950 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4428 infores:orphanet PMID:9443391|PMID:17062879 Assessed uuid:976b6387-d8a7-11f1-ae73-e4fade41113c NCBIGene:3265 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5173 infores:orphanet PMID:25132659|PMID:25648502|PMID:25109485|PMID:17891228 Assessed uuid:976b6388-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6407 infores:orphanet PMID:23625203|PMID:25132659|PMID:25648502 Assessed uuid:976b6389-d8a7-11f1-ae73-e4fade41113c NCBIGene:4914 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8031 infores:orphanet PMID:9172002|PMID:9169129|PMID:19883730 Assessed uuid:976b638a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7849 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8622 infores:orphanet PMID:10958784|PMID:25069464|PMID:25708358|PMID:17891228 Assessed uuid:976b638b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5108 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8727 infores:orphanet PMID:10980597 Assessed uuid:976b638c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11730 infores:orphanet PMID:27875244|PMID:27581851 Assessed uuid:976b638d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2120 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3495 infores:orphanet PMID:24327398 Assessed uuid:976b638e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7080 biolink:contributes_to Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11825 infores:orphanet PMID:21730105 Assessed uuid:976b638f-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:427 infores:orphanet PMID:25501013|PMID:25148236 Assessed uuid:976b6390-d8a7-11f1-ae73-e4fade41113c NCBIGene:4893 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7989 infores:orphanet PMID:25132659|PMID:25648502|PMID:25109485|PMID:17891228 Assessed uuid:976b6391-d8a7-11f1-ae73-e4fade41113c NCBIGene:4916 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8033 infores:orphanet PMID:24327398 Assessed uuid:976b6392-d8a7-11f1-ae73-e4fade41113c NCBIGene:8031 biolink:gene_associated_with_condition Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7671 infores:orphanet PMID:8290261|PMID:25407564 Assessed uuid:976b6393-d8a7-11f1-ae73-e4fade41113c NCBIGene:729582 biolink:contributes_to Orphanet:146 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17805 infores:orphanet PMID:23894154 Assessed uuid:976b6394-d8a7-11f1-ae73-e4fade41113c NCBIGene:51079 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:17194 infores:orphanet PMID:15841082 Assessed uuid:976b6395-d8a7-11f1-ae73-e4fade41113c NCBIGene:1964 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3250 infores:orphanet PMID:25417114 Assessed uuid:976b6396-d8a7-11f1-ae73-e4fade41113c NCBIGene:750 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1197 infores:orphanet PMID:26941397 Assessed uuid:976b6397-d8a7-11f1-ae73-e4fade41113c NCBIGene:2846 biolink:causes Orphanet:146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4478 infores:orphanet PMID:26941397 Assessed uuid:976b6398-d8a7-11f1-ae73-e4fade41113c NCBIGene:546 biolink:causes Orphanet:847 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:886 infores:orphanet PMID:20301622 Assessed uuid:976b6399-d8a7-11f1-ae73-e4fade41113c NCBIGene:1789 biolink:causes Orphanet:2268 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2979 infores:orphanet PMID:10588719 Assessed uuid:976b639a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9841 biolink:causes Orphanet:2268 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21143 infores:orphanet PMID:21906047 Assessed uuid:976b639b-d8a7-11f1-ae73-e4fade41113c NCBIGene:83879 biolink:causes Orphanet:2268 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14628 infores:orphanet PMID:26216346 Assessed uuid:976b639c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3070 biolink:causes Orphanet:2268 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4861 infores:orphanet PMID:26216346 Assessed uuid:976b639d-d8a7-11f1-ae73-e4fade41113c NCBIGene:29128 biolink:causes Orphanet:2268 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12556 infores:orphanet PMID:36458887 Assessed uuid:976b639e-d8a7-11f1-ae73-e4fade41113c NCBIGene:54806 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21575 infores:orphanet PMID:22693042 Assessed uuid:976b639f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51684 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16466 infores:orphanet PMID:33024317 Assessed uuid:976b63a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:91147 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28396 infores:orphanet PMID:17160906 Assessed uuid:976b63a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:219844 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26558 infores:orphanet PMID:26830932 Assessed uuid:976b63a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:54903 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7121 infores:orphanet PMID:24886560 Assessed uuid:976b63a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8481 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2567 infores:orphanet PMID:19800048 Assessed uuid:976b63a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:200894 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25419 infores:orphanet PMID:18674751|PMID:20301500 Assessed uuid:976b63a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:56623 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21474 infores:orphanet PMID:19668216 Assessed uuid:976b63a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:79867 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25774 infores:orphanet PMID:21565611 Assessed uuid:976b63a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:27077 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24123 infores:orphanet PMID:24886560 Assessed uuid:976b63a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:79600 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26113 infores:orphanet PMID:21725307|PMID:20301500 Assessed uuid:976b63a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:80776 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28636 infores:orphanet PMID:26092869 Assessed uuid:976b63aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:65062 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14432 infores:orphanet PMID:22693042|PMID:22152675 Assessed uuid:976b63ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:95681 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12370 infores:orphanet PMID:22246503 Assessed loss_of_function_variant_form uuid:976b63ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:65250 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25801 infores:orphanet PMID:22425360|PMID:22693042 Assessed uuid:976b63ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:26123 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24519 infores:orphanet PMID:22883145 Assessed uuid:976b63ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:79848 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26193 infores:orphanet PMID:24360808|PMID:24360803 Assessed loss_of_function_variant_form uuid:976b63af-d8a7-11f1-ae73-e4fade41113c NCBIGene:5147 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8788 infores:orphanet PMID:24166846 Assessed uuid:976b63b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:153241 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26690 infores:orphanet PMID:27208211 Assessed uuid:976b63b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:9786 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19960 infores:orphanet PMID:26096313 Assessed uuid:976b63b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9731 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24866 infores:orphanet PMID:26477546 Assessed uuid:976b63b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:23247 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29068 infores:orphanet PMID:26714646 Assessed loss_of_function_variant_form uuid:976b63b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:80173 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21424 infores:orphanet PMID:33531668 Assessed uuid:976b63b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:9851 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29110 infores:orphanet PMID:28220259 Assessed uuid:976b63b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:80210 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20730 infores:orphanet PMID:28625504 Assessed uuid:976b63b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10464 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23352 infores:orphanet PMID:26167768 Assessed uuid:976b63b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:403 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:694 infores:orphanet PMID:30269812 Assessed uuid:976b63b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:25776 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1307 infores:orphanet PMID:33131181 Assessed loss_of_function_variant_form uuid:976b63ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:23116 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19959 infores:orphanet PMID:32453716 Assessed uuid:976b63bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:219854 biolink:causes Orphanet:475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:27344 infores:orphanet PMID:33791682 Assessed loss_of_function_variant_form uuid:976b63bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6910 biolink:causes Orphanet:392 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11604 infores:orphanet PMID:20301290 Assessed uuid:976b63bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1281 biolink:contributes_to Orphanet:86 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2201 infores:orphanet PMID:2243125|PMID:10388642 Assessed uuid:976b63be-d8a7-11f1-ae73-e4fade41113c NCBIGene:29893 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17928 infores:orphanet PMID:21963259 Assessed uuid:976b63bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:57122 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29914 infores:orphanet PMID:26485283 Assessed uuid:976b63c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:23514 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28971 infores:orphanet PMID:27967308 Assessed loss_of_function_variant_form uuid:976b63c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4438 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7327 infores:orphanet PMID:28541421 Assessed uuid:976b63c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:171568 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30349 infores:orphanet PMID:30830215 Assessed loss_of_function_variant_form uuid:976b63c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:646 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1081 infores:orphanet PMID:30010909 Assessed uuid:976b63c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:125150 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26993 infores:orphanet PMID:34402903 Assessed uuid:976b63c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:344018 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24669 infores:orphanet PMID:18499083 Assessed uuid:976b63c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2492 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3969 infores:orphanet PMID:7553856|PMID:11889179|PMID:12571157 Assessed loss_of_function_variant_form uuid:976b63c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:56945 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14508 infores:orphanet PMID:29566152 Assessed uuid:976b63c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9210 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1068 infores:orphanet PMID:15136966 Assessed uuid:976b63c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2516 biolink:causes Orphanet:243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7983 infores:orphanet Assessed uuid:976b63ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:4854 biolink:causes Orphanet:136 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7883 infores:orphanet PMID:20301673 Assessed uuid:976b63cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1080 biolink:causes Orphanet:48 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1884 infores:orphanet PMID:7539342|PMID:10651488 Assessed uuid:976b63cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:10149 biolink:causes Orphanet:48 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4516 infores:orphanet PMID:27476656 Assessed uuid:976b63cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:64421 biolink:causes Orphanet:275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17642 infores:orphanet PMID:12055248 Assessed uuid:976b63ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:6452 biolink:causes Orphanet:184 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10825 infores:orphanet Assessed uuid:976b63cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:51128 biolink:causes Orphanet:71 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10535 infores:orphanet PMID:21235735|PMID:18786134 Assessed uuid:976b63d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3785 biolink:causes Orphanet:1949 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6296 infores:orphanet PMID:20437616|PMID:24375629 Assessed uuid:976b63d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3786 biolink:causes Orphanet:1949 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6297 infores:orphanet PMID:24851285|PMID:24375629 Assessed uuid:976b63d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:10804 biolink:causes Orphanet:189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4288 infores:orphanet PMID:11017065|PMID:11874494 Assessed uuid:976b63d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:10413 biolink:causes Orphanet:1473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16262 infores:orphanet PMID:24462371 Assessed loss_of_function_variant_form uuid:976b63d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:1344 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10593 infores:orphanet PMID:12522116 Assessed uuid:976b63d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4878 biolink:causes Orphanet:1344 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7939 infores:orphanet PMID:23275345 Assessed uuid:976b63d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4627 biolink:causes Orphanet:182050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7579 infores:orphanet Assessed uuid:976b63d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:157570 biolink:causes Orphanet:3103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27230 infores:orphanet PMID:20301332 Assessed uuid:976b63d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1071 biolink:causes Orphanet:181428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1869 infores:orphanet PMID:34207236 Assessed loss_of_function_variant_form uuid:976b63d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:345 biolink:causes Orphanet:181428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:610 infores:orphanet PMID:23701270 Assessed loss_of_function_variant_form uuid:976b63da-d8a7-11f1-ae73-e4fade41113c NCBIGene:949 biolink:causes Orphanet:181428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1664 infores:orphanet PMID:21480869 Assessed uuid:976b63db-d8a7-11f1-ae73-e4fade41113c NCBIGene:145173 biolink:causes Orphanet:709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20207 infores:orphanet PMID:20301637 Assessed uuid:976b63dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:9968 biolink:causes Orphanet:776 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11957 infores:orphanet PMID:17369503 Assessed uuid:976b63dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:51114 biolink:causes Orphanet:776 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18475 infores:orphanet PMID:23506379|PMID:17436253 Assessed uuid:976b63de-d8a7-11f1-ae73-e4fade41113c NCBIGene:65109 biolink:causes Orphanet:776 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20439 infores:orphanet PMID:17704778 Assessed uuid:976b63df-d8a7-11f1-ae73-e4fade41113c NCBIGene:7486 biolink:causes Orphanet:902 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12791 infores:orphanet PMID:20301687|PMID:16673358 Assessed uuid:976b63e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3664 biolink:causes Orphanet:888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6121 infores:orphanet Assessed uuid:976b63e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:57822 biolink:causes Orphanet:888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25839 infores:orphanet PMID:24360809 Assessed uuid:976b63e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6324 biolink:causes Orphanet:871 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10586 infores:orphanet PMID:18464934 Assessed loss_of_function_variant_form uuid:976b63e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:871 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10593 infores:orphanet PMID:12598077|PMID:19251209|PMID:22717692 Assessed loss_of_function_variant_form uuid:976b63e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:contributes_to Orphanet:871 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:2488 infores:orphanet PMID:22179962 Assessed uuid:976b63e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:54795 biolink:causes Orphanet:871 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:17993 infores:orphanet PMID:19726882|PMID:20562447 Assessed gain_of_function_variant_form uuid:976b63e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5925 biolink:gene_associated_with_condition Orphanet:1587 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9884 infores:orphanet PMID:21505449 Assessed uuid:976b63e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:55209 biolink:gene_associated_with_condition Orphanet:1620 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:25566 infores:orphanet PMID:25138099 Assessed uuid:976b63e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7862 biolink:gene_associated_with_condition Orphanet:1620 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14255 infores:orphanet PMID:28881385 Assessed uuid:976b63e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:gene_associated_with_condition Orphanet:1627 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2488 infores:orphanet PMID:17910075 Assessed uuid:976b63ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:64324 biolink:gene_associated_with_condition Orphanet:1627 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14234 infores:orphanet PMID:17910075 Assessed uuid:976b63eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5781 biolink:causes Orphanet:500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9644 infores:orphanet PMID:20301557 Assessed uuid:976b63ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1097 infores:orphanet PMID:20301557 Assessed uuid:976b63ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:5894 biolink:causes Orphanet:500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9829 infores:orphanet PMID:20301557 Assessed gain_of_function_variant_form uuid:976b63ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:57167 biolink:causes Orphanet:233 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15924 infores:orphanet PMID:23687435 Assessed uuid:976b63ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:1123 biolink:causes Orphanet:233 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1943 infores:orphanet PMID:18653847 Assessed uuid:976b63f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:9935 biolink:causes Orphanet:233 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6408 infores:orphanet PMID:27181683 Assessed loss_of_function_variant_form uuid:976b63f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:26826201 Assessed uuid:976b63f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6598 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11103 infores:orphanet PMID:20930055 Assessed uuid:976b63f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:51684 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16466 infores:orphanet PMID:22958902 Assessed uuid:976b63f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:4771 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7773 infores:orphanet PMID:8162072 Assessed uuid:976b63f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11730 infores:orphanet PMID:29216385|PMID:29312603 Assessed uuid:976b63f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5155 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8800 infores:orphanet PMID:2212004 Assessed uuid:976b63f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:207 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:391 infores:orphanet PMID:31750041 Assessed uuid:976b63f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:950 infores:orphanet PMID:28170043 Assessed uuid:976b63f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:950 infores:orphanet PMID:28170043 Assessed uuid:976b63fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:6605 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11109 infores:orphanet PMID:23377182 Assessed loss_of_function_variant_form uuid:976b63fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6608 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11119 infores:orphanet PMID:23334667|PMID:23348505 Assessed uuid:976b63fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:84231 biolink:causes Orphanet:2495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:20456 infores:orphanet PMID:23334667|PMID:23348505 Assessed uuid:976b63fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6323 biolink:causes Orphanet:569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10585 infores:orphanet PMID:20301562 Assessed uuid:976b63fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:773 biolink:causes Orphanet:569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1388 infores:orphanet PMID:20301562 Assessed uuid:976b63ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:477 biolink:causes Orphanet:569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:800 infores:orphanet PMID:20301562 Assessed uuid:976b6400-d8a7-11f1-ae73-e4fade41113c NCBIGene:112476 biolink:causes Orphanet:569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30500 infores:orphanet PMID:23077016|PMID:23077024|PMID:22845787 Assessed uuid:976b6401-d8a7-11f1-ae73-e4fade41113c NCBIGene:6473 biolink:causes Orphanet:240 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10853 infores:orphanet PMID:20301394 Assessed loss_of_function_variant_form uuid:976b6402-d8a7-11f1-ae73-e4fade41113c NCBIGene:10683 biolink:causes Orphanet:2311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2909 infores:orphanet PMID:20301771 Assessed uuid:976b6403-d8a7-11f1-ae73-e4fade41113c NCBIGene:145873 biolink:causes Orphanet:2311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29659 infores:orphanet PMID:20301771 Assessed uuid:976b6404-d8a7-11f1-ae73-e4fade41113c NCBIGene:3955 biolink:causes Orphanet:2311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6560 infores:orphanet PMID:20301771 Assessed uuid:976b6405-d8a7-11f1-ae73-e4fade41113c NCBIGene:84667 biolink:causes Orphanet:2311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15977 infores:orphanet PMID:20301771 Assessed uuid:976b6406-d8a7-11f1-ae73-e4fade41113c NCBIGene:6911 biolink:causes Orphanet:2311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11605 infores:orphanet PMID:27861764 Assessed uuid:976b6407-d8a7-11f1-ae73-e4fade41113c NCBIGene:134701 biolink:causes Orphanet:2311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21390 infores:orphanet PMID:25343988 Assessed uuid:976b6408-d8a7-11f1-ae73-e4fade41113c NCBIGene:6559 biolink:causes Orphanet:358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10912 infores:orphanet PMID:22169961|PMID:22990302 Assessed loss_of_function_variant_form uuid:976b6409-d8a7-11f1-ae73-e4fade41113c NCBIGene:1188 biolink:causes Orphanet:358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2027 infores:orphanet PMID:20931281|PMID:19265611|PMID:18667063 Assessed loss_of_function_variant_form uuid:976b640a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6662 biolink:causes Orphanet:242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11204 infores:orphanet PMID:22051515 Assessed uuid:976b640b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6736 biolink:causes Orphanet:242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11311 infores:orphanet PMID:20301714 Assessed loss_of_function_variant_form uuid:976b640c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:gene_associated_with_condition Orphanet:242 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12796 infores:orphanet PMID:25613702|PMID:21384108|PMID:21314844 Not yet assessed uuid:976b640d-d8a7-11f1-ae73-e4fade41113c NCBIGene:50846 biolink:causes Orphanet:242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2865 infores:orphanet PMID:20301714 Assessed uuid:976b640e-d8a7-11f1-ae73-e4fade41113c NCBIGene:190 biolink:causes Orphanet:242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7960 infores:orphanet PMID:30879272 Assessed uuid:976b640f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2516 biolink:causes Orphanet:242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7983 infores:orphanet PMID:20301714 Assessed uuid:976b6410-d8a7-11f1-ae73-e4fade41113c NCBIGene:1761 biolink:gene_associated_with_condition Orphanet:242 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2934 infores:orphanet PMID:20685758 Assessed uuid:976b6411-d8a7-11f1-ae73-e4fade41113c NCBIGene:84733 biolink:causes Orphanet:242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1552 infores:orphanet PMID:19361780 Assessed loss_of_function_variant_form uuid:976b6412-d8a7-11f1-ae73-e4fade41113c NCBIGene:4214 biolink:causes Orphanet:242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6848 infores:orphanet PMID:21129722 Assessed uuid:976b6413-d8a7-11f1-ae73-e4fade41113c NCBIGene:57647 biolink:causes Orphanet:242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17210 infores:orphanet PMID:31337883 Assessed uuid:976b6414-d8a7-11f1-ae73-e4fade41113c NCBIGene:80144 biolink:causes Orphanet:2052 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19185 infores:orphanet PMID:23473829 Assessed uuid:976b6415-d8a7-11f1-ae73-e4fade41113c NCBIGene:341640 biolink:causes Orphanet:2052 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25396 infores:orphanet PMID:18671281 Assessed uuid:976b6416-d8a7-11f1-ae73-e4fade41113c NCBIGene:23426 biolink:causes Orphanet:2052 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18708 infores:orphanet PMID:22510445 Assessed uuid:976b6417-d8a7-11f1-ae73-e4fade41113c NCBIGene:389827 biolink:causes Orphanet:1358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33778 infores:orphanet PMID:28681861 Assessed uuid:976b6418-d8a7-11f1-ae73-e4fade41113c NCBIGene:101929726 biolink:causes Orphanet:1358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:52391 infores:orphanet PMID:35642635 Assessed loss_of_function_variant_form uuid:976b6419-d8a7-11f1-ae73-e4fade41113c NCBIGene:6901 biolink:causes Orphanet:111 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11577 infores:orphanet PMID:23843353 Assessed loss_of_function_variant_form uuid:976b641a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10225 biolink:gene_associated_with_condition Orphanet:1308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16892 infores:orphanet PMID:17847009|PMID:19449408 Not yet assessed uuid:976b641b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4792 biolink:causes Orphanet:150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7797 infores:orphanet PMID:27647909 Assessed uuid:976b641c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3115 biolink:contributes_to Orphanet:133 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4940 infores:orphanet PMID:22972925 Assessed uuid:976b641d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3110 biolink:causes Orphanet:1552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4979 infores:orphanet PMID:22820079|PMID:23370340 Assessed uuid:976b641e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2776 biolink:causes Orphanet:624 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4390 infores:orphanet PMID:23656586 Assessed uuid:976b641f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3973 biolink:causes Orphanet:3000 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6585 infores:orphanet Assessed uuid:976b6420-d8a7-11f1-ae73-e4fade41113c NCBIGene:117581 biolink:causes Orphanet:920 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20670 infores:orphanet PMID:26119818 Assessed uuid:976b6421-d8a7-11f1-ae73-e4fade41113c NCBIGene:9897 biolink:causes Orphanet:7 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28984 infores:orphanet PMID:24065355 Assessed uuid:976b6422-d8a7-11f1-ae73-e4fade41113c NCBIGene:28952 biolink:causes Orphanet:7 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28909 infores:orphanet PMID:24916641 Assessed loss_of_function_variant_form uuid:976b6423-d8a7-11f1-ae73-e4fade41113c NCBIGene:57020 biolink:causes Orphanet:7 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24641 infores:orphanet PMID:31712251 Assessed uuid:976b6424-d8a7-11f1-ae73-e4fade41113c NCBIGene:56896 biolink:causes Orphanet:7 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20637 infores:orphanet PMID:33894126 Assessed uuid:976b6425-d8a7-11f1-ae73-e4fade41113c NCBIGene:64327 biolink:causes Orphanet:931 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13243 infores:orphanet PMID:11090342 Assessed uuid:976b6426-d8a7-11f1-ae73-e4fade41113c NCBIGene:8086 biolink:causes Orphanet:869 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13666 infores:orphanet PMID:11159947|PMID:20674935|PMID:11815731 Assessed uuid:976b6427-d8a7-11f1-ae73-e4fade41113c NCBIGene:60684 biolink:causes Orphanet:869 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25751 infores:orphanet PMID:27707803 Assessed uuid:976b6428-d8a7-11f1-ae73-e4fade41113c NCBIGene:29926 biolink:causes Orphanet:869 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:22923 infores:orphanet PMID:24035193 Assessed loss_of_function_variant_form uuid:976b6429-d8a7-11f1-ae73-e4fade41113c NCBIGene:3643 biolink:causes Orphanet:2297 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6091 infores:orphanet PMID:8288049|PMID:20339196 Assessed uuid:976b642a-d8a7-11f1-ae73-e4fade41113c NCBIGene:50945 biolink:causes Orphanet:921 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11600 infores:orphanet PMID:22784330 Assessed uuid:976b642b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4967 biolink:causes Orphanet:31 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8124 infores:orphanet PMID:36520152 Assessed loss_of_function_variant_form uuid:976b642c-d8a7-11f1-ae73-e4fade41113c NCBIGene:55630 biolink:causes Orphanet:37 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17129 infores:orphanet PMID:22166942|PMID:22082465|PMID:12787121 Assessed loss_of_function_variant_form uuid:976b642d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5573 biolink:causes Orphanet:950 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9388 infores:orphanet PMID:21651393|PMID:22464250|PMID:22464252 Assessed gain_of_function_variant_form uuid:976b642e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5144 biolink:causes Orphanet:950 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8783 infores:orphanet PMID:22464250|PMID:22464252 Assessed uuid:976b642f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4853 biolink:causes Orphanet:955 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:7882 infores:orphanet PMID:21378985 Assessed gain_of_function_variant_form uuid:976b6430-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:952 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2514 infores:orphanet PMID:38173341 Assessed gain_of_function_variant_form uuid:976b6431-d8a7-11f1-ae73-e4fade41113c NCBIGene:2121 biolink:causes Orphanet:952 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3497 infores:orphanet PMID:10700184 Assessed uuid:976b6432-d8a7-11f1-ae73-e4fade41113c NCBIGene:132884 biolink:causes Orphanet:952 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19747 infores:orphanet PMID:23220543|PMID:22791528|PMID:16404586 Assessed uuid:976b6433-d8a7-11f1-ae73-e4fade41113c NCBIGene:10743 biolink:gene_associated_with_condition Orphanet:1713 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9834 infores:orphanet PMID:20188345 Assessed uuid:976b6434-d8a7-11f1-ae73-e4fade41113c NCBIGene:4204 biolink:gene_associated_with_condition Orphanet:1762 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6990 infores:orphanet PMID:17088400 Assessed uuid:976b6435-d8a7-11f1-ae73-e4fade41113c NCBIGene:22954 biolink:causes Orphanet:1878 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16380 infores:orphanet PMID:20301582 Assessed uuid:976b6436-d8a7-11f1-ae73-e4fade41113c NCBIGene:79641 biolink:causes Orphanet:1946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29478 infores:orphanet PMID:22424600 Assessed loss_of_function_variant_form uuid:976b6437-d8a7-11f1-ae73-e4fade41113c NCBIGene:284111 biolink:causes Orphanet:1946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23089 infores:orphanet PMID:27600704 Assessed uuid:976b6438-d8a7-11f1-ae73-e4fade41113c NCBIGene:72 biolink:causes Orphanet:2604 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:145 infores:orphanet PMID:22960657 Assessed uuid:976b6439-d8a7-11f1-ae73-e4fade41113c NCBIGene:1374 biolink:causes Orphanet:156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2328 infores:orphanet PMID:20301700 Assessed loss_of_function_variant_form uuid:976b643a-d8a7-11f1-ae73-e4fade41113c NCBIGene:80324 biolink:causes Orphanet:2598 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15508 infores:orphanet PMID:21686963 Assessed uuid:976b643b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51067 biolink:causes Orphanet:2598 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24249 infores:orphanet PMID:20598274|PMID:22504945|PMID:24344687|PMID:24430573 Assessed uuid:976b643c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:causes Orphanet:1072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15979 infores:orphanet PMID:32953416 Assessed uuid:976b643d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2050 biolink:causes Orphanet:1053 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3395 infores:orphanet PMID:29444212 Assessed loss_of_function_variant_form uuid:976b643e-d8a7-11f1-ae73-e4fade41113c NCBIGene:701 biolink:causes Orphanet:1052 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1149 infores:orphanet PMID:15475955 Assessed uuid:976b643f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9702 biolink:causes Orphanet:1052 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30794 infores:orphanet PMID:21552266|PMID:24259107 Assessed uuid:976b6440-d8a7-11f1-ae73-e4fade41113c NCBIGene:699 biolink:causes Orphanet:1052 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1148 infores:orphanet PMID:23747338 Assessed uuid:976b6441-d8a7-11f1-ae73-e4fade41113c NCBIGene:9184 biolink:causes Orphanet:1052 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1151 infores:orphanet PMID:23747338 Assessed uuid:976b6442-d8a7-11f1-ae73-e4fade41113c NCBIGene:9319 biolink:causes Orphanet:1052 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12307 infores:orphanet PMID:28553959 Assessed uuid:976b6443-d8a7-11f1-ae73-e4fade41113c NCBIGene:4322 biolink:causes Orphanet:1040 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7159 infores:orphanet PMID:19615667|PMID:24781753 Assessed loss_of_function_variant_form uuid:976b6444-d8a7-11f1-ae73-e4fade41113c NCBIGene:4322 biolink:causes Orphanet:1040 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:7159 infores:orphanet PMID:19615667|PMID:24781753 Assessed gain_of_function_variant_form uuid:976b6445-d8a7-11f1-ae73-e4fade41113c NCBIGene:4318 biolink:causes Orphanet:1040 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7176 infores:orphanet PMID:19615667 Assessed loss_of_function_variant_form uuid:976b6446-d8a7-11f1-ae73-e4fade41113c NCBIGene:64093 biolink:causes Orphanet:1106 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20318 infores:orphanet Assessed uuid:976b6447-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:contributes_to Orphanet:990 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:8522 infores:orphanet PMID:22577225 Assessed uuid:976b6448-d8a7-11f1-ae73-e4fade41113c NCBIGene:5396 biolink:causes Orphanet:990 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9142 infores:orphanet PMID:21294718 Assessed loss_of_function_variant_form uuid:976b6449-d8a7-11f1-ae73-e4fade41113c NCBIGene:5913 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9863 infores:orphanet PMID:18179903 Assessed loss_of_function_variant_form uuid:976b644a-d8a7-11f1-ae73-e4fade41113c NCBIGene:285489 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26594 infores:orphanet PMID:19261599 Assessed loss_of_function_variant_form uuid:976b644b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55605 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19349 infores:orphanet PMID:34740919 Assessed loss_of_function_variant_form uuid:976b644c-d8a7-11f1-ae73-e4fade41113c NCBIGene:54551 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6814 infores:orphanet PMID:26365340 Assessed uuid:976b644d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7846 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20766 infores:orphanet PMID:35686685 Assessed uuid:976b644e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4593 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7525 infores:orphanet PMID:25612909|PMID:25537362 Assessed loss_of_function_variant_form uuid:976b644f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4654 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7611 infores:orphanet PMID:26733463 Assessed loss_of_function_variant_form uuid:976b6450-d8a7-11f1-ae73-e4fade41113c NCBIGene:6572 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10936 infores:orphanet PMID:31059209 Assessed uuid:976b6451-d8a7-11f1-ae73-e4fade41113c NCBIGene:4927 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8067 infores:orphanet PMID:30543681 Assessed loss_of_function_variant_form uuid:976b6452-d8a7-11f1-ae73-e4fade41113c NCBIGene:342035 biolink:causes Orphanet:994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29514 infores:orphanet PMID:32812332 Assessed uuid:976b6453-d8a7-11f1-ae73-e4fade41113c NCBIGene:10535 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18518 infores:orphanet PMID:20301648 Assessed uuid:976b6454-d8a7-11f1-ae73-e4fade41113c NCBIGene:79621 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25671 infores:orphanet PMID:20301648 Assessed uuid:976b6455-d8a7-11f1-ae73-e4fade41113c NCBIGene:84153 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24116 infores:orphanet PMID:20301648 Assessed uuid:976b6456-d8a7-11f1-ae73-e4fade41113c NCBIGene:103 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:225 infores:orphanet PMID:20301648|PMID:23001123 Assessed uuid:976b6457-d8a7-11f1-ae73-e4fade41113c NCBIGene:11277 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12269 infores:orphanet PMID:20301648|PMID:16845398|PMID:17357087|PMID:20799324 Assessed uuid:976b6458-d8a7-11f1-ae73-e4fade41113c NCBIGene:25939 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15925 infores:orphanet PMID:20301648|PMID:20842748|PMID:19525956 Assessed uuid:976b6459-d8a7-11f1-ae73-e4fade41113c NCBIGene:64135 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:18873 infores:orphanet PMID:24686847|PMID:24995871 Assessed gain_of_function_variant_form uuid:976b645a-d8a7-11f1-ae73-e4fade41113c NCBIGene:134353 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30860 infores:orphanet PMID:33230297 Assessed uuid:976b645b-d8a7-11f1-ae73-e4fade41113c NCBIGene:100147744 biolink:causes Orphanet:51 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34033 infores:orphanet PMID:33230297 Assessed uuid:976b645c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:causes Orphanet:978 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15979 infores:orphanet PMID:17041931 Assessed uuid:976b645d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet PMID:9600232 Assessed uuid:976b645e-d8a7-11f1-ae73-e4fade41113c NCBIGene:64327 biolink:causes Orphanet:988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13243 infores:orphanet PMID:19847792 Assessed uuid:976b645f-d8a7-11f1-ae73-e4fade41113c NCBIGene:57647 biolink:causes Orphanet:983 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17210 infores:orphanet PMID:31287541 Assessed uuid:976b6460-d8a7-11f1-ae73-e4fade41113c NCBIGene:6335 biolink:causes Orphanet:970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10597 infores:orphanet PMID:23596073 Assessed loss_of_function_variant_form uuid:976b6461-d8a7-11f1-ae73-e4fade41113c NCBIGene:65125 biolink:causes Orphanet:970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14540 infores:orphanet PMID:21089229 Assessed loss_of_function_variant_form uuid:976b6462-d8a7-11f1-ae73-e4fade41113c NCBIGene:54463 biolink:causes Orphanet:970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25964 infores:orphanet PMID:21089229 Assessed loss_of_function_variant_form uuid:976b6463-d8a7-11f1-ae73-e4fade41113c NCBIGene:547 biolink:causes Orphanet:970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:888 infores:orphanet PMID:21089229 Assessed loss_of_function_variant_form uuid:976b6464-d8a7-11f1-ae73-e4fade41113c NCBIGene:4882 biolink:causes Orphanet:40 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7944 infores:orphanet PMID:22691581|PMID:15146390 Assessed uuid:976b6465-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:969 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet PMID:21683322 Assessed uuid:976b6466-d8a7-11f1-ae73-e4fade41113c NCBIGene:4054 biolink:causes Orphanet:969 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6716 infores:orphanet PMID:27068007 Assessed uuid:976b6467-d8a7-11f1-ae73-e4fade41113c NCBIGene:4851 biolink:causes Orphanet:974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7881 infores:orphanet PMID:25132448 Assessed uuid:976b6468-d8a7-11f1-ae73-e4fade41113c NCBIGene:57514 biolink:causes Orphanet:974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:29216 infores:orphanet PMID:21565291 Assessed gain_of_function_variant_form uuid:976b6469-d8a7-11f1-ae73-e4fade41113c NCBIGene:57572 biolink:causes Orphanet:974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19189 infores:orphanet PMID:21820096 Assessed loss_of_function_variant_form uuid:976b646a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3516 biolink:causes Orphanet:974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5724 infores:orphanet PMID:22883147 Assessed uuid:976b646b-d8a7-11f1-ae73-e4fade41113c NCBIGene:285203 biolink:causes Orphanet:974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28526 infores:orphanet PMID:23522784 Assessed uuid:976b646c-d8a7-11f1-ae73-e4fade41113c NCBIGene:54567 biolink:causes Orphanet:974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2910 infores:orphanet PMID:26299364 Assessed loss_of_function_variant_form uuid:976b646d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3736 biolink:causes Orphanet:972 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6218 infores:orphanet PMID:17136396 Assessed uuid:976b646e-d8a7-11f1-ae73-e4fade41113c NCBIGene:57167 biolink:causes Orphanet:959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15924 infores:orphanet PMID:16086360|PMID:20301547 Assessed uuid:976b646f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:968 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4220 infores:orphanet PMID:8589725 Assessed loss_of_function_variant_form uuid:976b6470-d8a7-11f1-ae73-e4fade41113c NCBIGene:6389 biolink:contributes_to Orphanet:139411 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10680 infores:orphanet PMID:26173966 Assessed uuid:976b6471-d8a7-11f1-ae73-e4fade41113c NCBIGene:6390 biolink:contributes_to Orphanet:139411 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10681 infores:orphanet PMID:26173966 Assessed uuid:976b6472-d8a7-11f1-ae73-e4fade41113c NCBIGene:6391 biolink:contributes_to Orphanet:139411 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10682 infores:orphanet PMID:26173966 Assessed uuid:976b6473-d8a7-11f1-ae73-e4fade41113c NCBIGene:54757 biolink:causes Orphanet:1031 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23015 infores:orphanet PMID:23434854 Assessed uuid:976b6474-d8a7-11f1-ae73-e4fade41113c NCBIGene:7840 biolink:causes Orphanet:64 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:428 infores:orphanet PMID:20301444 Assessed uuid:976b6475-d8a7-11f1-ae73-e4fade41113c NCBIGene:215 biolink:causes Orphanet:139396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:61 infores:orphanet PMID:20301491 Assessed uuid:976b6476-d8a7-11f1-ae73-e4fade41113c NCBIGene:215 biolink:causes Orphanet:139399 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:61 infores:orphanet PMID:20301491 Assessed uuid:976b6477-d8a7-11f1-ae73-e4fade41113c NCBIGene:5660 biolink:causes Orphanet:139406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9498 infores:orphanet PMID:1371116 Assessed uuid:976b6478-d8a7-11f1-ae73-e4fade41113c NCBIGene:55806 biolink:causes Orphanet:701 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5172 infores:orphanet PMID:9445480 Assessed uuid:976b6479-d8a7-11f1-ae73-e4fade41113c NCBIGene:2697 biolink:causes Orphanet:1010 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4274 infores:orphanet PMID:25168385 Assessed gain_of_function_variant_form uuid:976b647a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9759 biolink:gene_associated_with_condition Orphanet:1001 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14063 infores:orphanet PMID:20691407|PMID:23188045 Assessed uuid:976b647b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6567 biolink:causes Orphanet:59 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10923 infores:orphanet PMID:20301789|PMID:18398436 Assessed uuid:976b647c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84295 biolink:causes Orphanet:127 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18145 infores:orphanet PMID:12415272|PMID:23229552 Assessed loss_of_function_variant_form uuid:976b647d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2317 biolink:causes Orphanet:1263 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3755 infores:orphanet PMID:20301736|PMID:15994868 Assessed uuid:976b647e-d8a7-11f1-ae73-e4fade41113c NCBIGene:54101 biolink:causes Orphanet:1234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:496 infores:orphanet PMID:22197488|PMID:22197489 Assessed loss_of_function_variant_form uuid:976b647f-d8a7-11f1-ae73-e4fade41113c NCBIGene:117581 biolink:causes Orphanet:1231 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20670 infores:orphanet PMID:26119818 Assessed uuid:976b6480-d8a7-11f1-ae73-e4fade41113c NCBIGene:100506658 biolink:causes Orphanet:1229 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8104 infores:orphanet PMID:20727516 Assessed loss_of_function_variant_form uuid:976b6481-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:109 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9588 infores:orphanet PMID:20301661 Assessed uuid:976b6482-d8a7-11f1-ae73-e4fade41113c NCBIGene:4976 biolink:causes Orphanet:1239 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8140 infores:orphanet PMID:35741767 Assessed uuid:976b6483-d8a7-11f1-ae73-e4fade41113c NCBIGene:2201 biolink:causes Orphanet:115 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3604 infores:orphanet PMID:20301560 Assessed uuid:976b6484-d8a7-11f1-ae73-e4fade41113c NCBIGene:2997 biolink:causes Orphanet:137625 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4706 infores:orphanet Assessed uuid:976b6485-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:137608 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9588 infores:orphanet PMID:17392703 Assessed uuid:976b6486-d8a7-11f1-ae73-e4fade41113c NCBIGene:1009 biolink:causes Orphanet:1299 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1750 infores:orphanet PMID:28988429|PMID:29271567 Assessed loss_of_function_variant_form uuid:976b6487-d8a7-11f1-ae73-e4fade41113c NCBIGene:3664 biolink:causes Orphanet:1300 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6121 infores:orphanet PMID:20301581 Assessed uuid:976b6488-d8a7-11f1-ae73-e4fade41113c NCBIGene:84282 biolink:causes Orphanet:137634 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21158 infores:orphanet PMID:17632510 Assessed uuid:976b6489-d8a7-11f1-ae73-e4fade41113c NCBIGene:7020 biolink:causes Orphanet:1297 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11742 infores:orphanet PMID:21634087|PMID:18423521 Assessed uuid:976b648a-d8a7-11f1-ae73-e4fade41113c NCBIGene:11128 biolink:causes Orphanet:137639 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30074 infores:orphanet PMID:27506977 Assessed uuid:976b648b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5139 biolink:causes Orphanet:1276 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:8778 infores:orphanet PMID:25961942 Assessed gain_of_function_variant_form uuid:976b648c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5307 biolink:causes Orphanet:1275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9004 infores:orphanet PMID:23022097 Assessed uuid:976b648d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9555 biolink:causes Orphanet:1275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4740 infores:orphanet PMID:30711920 Assessed uuid:976b648e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10436 biolink:causes Orphanet:1270 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16912 infores:orphanet PMID:19463982 Assessed uuid:976b648f-d8a7-11f1-ae73-e4fade41113c NCBIGene:161742 biolink:causes Orphanet:137605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20249 infores:orphanet PMID:20945555 Assessed uuid:976b6490-d8a7-11f1-ae73-e4fade41113c NCBIGene:54840 biolink:causes Orphanet:1168 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15984 infores:orphanet PMID:20301629 Assessed uuid:976b6491-d8a7-11f1-ae73-e4fade41113c NCBIGene:285590 biolink:causes Orphanet:137834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29242 infores:orphanet PMID:20137777 Assessed loss_of_function_variant_form uuid:976b6492-d8a7-11f1-ae73-e4fade41113c NCBIGene:4983 biolink:causes Orphanet:137831 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8148 infores:orphanet PMID:20528889 Assessed uuid:976b6493-d8a7-11f1-ae73-e4fade41113c NCBIGene:23203 biolink:causes Orphanet:1170 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18667 infores:orphanet PMID:25808372 Assessed uuid:976b6494-d8a7-11f1-ae73-e4fade41113c NCBIGene:2705 biolink:causes Orphanet:1175 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4283 infores:orphanet PMID:23773993 Assessed uuid:976b6495-d8a7-11f1-ae73-e4fade41113c NCBIGene:10908 biolink:causes Orphanet:1180 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16268 infores:orphanet PMID:24355708 Assessed uuid:976b6496-d8a7-11f1-ae73-e4fade41113c NCBIGene:10908 biolink:causes Orphanet:1173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16268 infores:orphanet PMID:24355708 Assessed uuid:976b6497-d8a7-11f1-ae73-e4fade41113c NCBIGene:54476 biolink:causes Orphanet:1173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21698 infores:orphanet PMID:23656588 Assessed loss_of_function_variant_form uuid:976b6498-d8a7-11f1-ae73-e4fade41113c NCBIGene:85476 biolink:causes Orphanet:137681 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13780 infores:orphanet PMID:23430926 Assessed uuid:976b6499-d8a7-11f1-ae73-e4fade41113c NCBIGene:4519 biolink:gene_associated_with_condition Orphanet:137675 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7427 infores:orphanet PMID:10960495 Not yet assessed uuid:976b649a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:137678 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:17726487 Assessed uuid:976b649b-d8a7-11f1-ae73-e4fade41113c NCBIGene:95 biolink:causes Orphanet:137754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:177 infores:orphanet PMID:16465618 Assessed loss_of_function_variant_form uuid:976b649c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7317 biolink:causes Orphanet:1145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12469 infores:orphanet PMID:18179898 Assessed loss_of_function_variant_form uuid:976b649d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2065 biolink:causes Orphanet:137776 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3431 infores:orphanet PMID:17701904 Assessed loss_of_function_variant_form uuid:976b649e-d8a7-11f1-ae73-e4fade41113c NCBIGene:60681 biolink:causes Orphanet:1149 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18169 infores:orphanet PMID:23712425 Assessed uuid:976b649f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8838 biolink:causes Orphanet:1159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12771 infores:orphanet PMID:10471507|PMID:22987568 Assessed uuid:976b64a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:23396 biolink:causes Orphanet:137783 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8996 infores:orphanet PMID:17701898 Assessed uuid:976b64a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4604 biolink:causes Orphanet:137783 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7549 infores:orphanet PMID:22610851 Assessed uuid:976b64a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4976 biolink:causes Orphanet:1215 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8140 infores:orphanet PMID:18158317|PMID:22776096 Assessed uuid:976b64a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:1216 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18083 infores:orphanet PMID:24830047|PMID:22526352 Assessed uuid:976b64a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:9401 biolink:causes Orphanet:1225 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9949 infores:orphanet PMID:20301383|PMID:15964893 Assessed uuid:976b64a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2304 biolink:causes Orphanet:1226 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3806 infores:orphanet PMID:9697705|PMID:12165566|PMID:25905381 Assessed loss_of_function_variant_form uuid:976b64a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2773 biolink:causes Orphanet:137888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4387 infores:orphanet PMID:22560091 Assessed uuid:976b64a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5332 biolink:causes Orphanet:137888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9059 infores:orphanet PMID:22560091 Assessed uuid:976b64a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1906 biolink:causes Orphanet:137888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3176 infores:orphanet PMID:24268655 Assessed uuid:976b64a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:56652 biolink:causes Orphanet:1186 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1160 infores:orphanet PMID:20301746 Assessed uuid:976b64aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:6795 biolink:causes Orphanet:137893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11391 infores:orphanet PMID:17435757|PMID:21733974 Assessed loss_of_function_variant_form uuid:976b64ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:196385 biolink:causes Orphanet:137893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2941 infores:orphanet PMID:34237282 Assessed uuid:976b64ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:80173 biolink:causes Orphanet:137893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21424 infores:orphanet PMID:33689014 Assessed uuid:976b64ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:286464 biolink:causes Orphanet:137893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26708 infores:orphanet PMID:33472045 Assessed uuid:976b64ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:144132 biolink:causes Orphanet:137893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26532 infores:orphanet PMID:34932939 Assessed uuid:976b64af-d8a7-11f1-ae73-e4fade41113c NCBIGene:10566 biolink:causes Orphanet:137893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:373 infores:orphanet PMID:35228300 Assessed loss_of_function_variant_form uuid:976b64b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:26074 biolink:causes Orphanet:137893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15872 infores:orphanet PMID:35387802 Assessed uuid:976b64b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:221481 biolink:causes Orphanet:137893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21099 infores:orphanet PMID:35534203 Assessed loss_of_function_variant_form uuid:976b64b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:55157 biolink:causes Orphanet:137898 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25538 infores:orphanet PMID:17384640 Assessed uuid:976b64b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5631 biolink:causes Orphanet:1187 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9462 infores:orphanet PMID:20301738 Assessed loss_of_function_variant_form uuid:976b64b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2317 biolink:causes Orphanet:1190 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3755 infores:orphanet PMID:20301736 Assessed gain_of_function_variant_form uuid:976b64b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:56945 biolink:causes Orphanet:137908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14508 infores:orphanet PMID:17873122 Assessed uuid:976b64b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10907 biolink:causes Orphanet:1200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30551 infores:orphanet PMID:25434003 Assessed loss_of_function_variant_form uuid:976b64b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:25885 biolink:causes Orphanet:1200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17264 infores:orphanet PMID:25913037 Assessed uuid:976b64b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:23384 biolink:causes Orphanet:141258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29022 infores:orphanet PMID:21703590 Assessed uuid:976b64b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:9361 biolink:causes Orphanet:1458 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9479 infores:orphanet PMID:25574826 Assessed uuid:976b64ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:91147 biolink:causes Orphanet:1454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28396 infores:orphanet PMID:19574260|PMID:17160906|PMID:20615230|PMID:20301500 Assessed uuid:976b64bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:23322 biolink:causes Orphanet:1454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29168 infores:orphanet PMID:19574260|PMID:20301500 Assessed uuid:976b64bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:57545 biolink:causes Orphanet:1454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29253 infores:orphanet PMID:19574260|PMID:20301500 Assessed uuid:976b64bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:56623 biolink:causes Orphanet:1454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21474 infores:orphanet PMID:20301500|PMID:19668216 Assessed uuid:976b64be-d8a7-11f1-ae73-e4fade41113c NCBIGene:4693 biolink:gene_associated_with_condition Orphanet:190 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7678 infores:orphanet PMID:20301506|PMID:10484772 Not yet assessed uuid:976b64bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:7080 biolink:causes Orphanet:1429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11825 infores:orphanet PMID:12891678|PMID:16220345|PMID:24555207 Assessed uuid:976b64c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:111 biolink:causes Orphanet:1429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:236 infores:orphanet PMID:26085604 Assessed uuid:976b64c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3930 biolink:causes Orphanet:1426 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6518 infores:orphanet PMID:21327084 Assessed uuid:976b64c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1302 biolink:causes Orphanet:1427 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2187 infores:orphanet PMID:10677296|PMID:21438135 Assessed loss_of_function_variant_form uuid:976b64c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5456 biolink:causes Orphanet:1435 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9217 infores:orphanet PMID:17935254 Assessed uuid:976b64c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:57822 biolink:contributes_to Orphanet:155878 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25839 infores:orphanet PMID:27018472|PMID:27018475 Assessed uuid:976b64c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7314 biolink:gene_associated_with_condition Orphanet:155878 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12463 infores:orphanet PMID:17468296 Not yet assessed uuid:976b64c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:83959 biolink:causes Orphanet:1490 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16438 infores:orphanet PMID:17220209|PMID:18922146 Assessed uuid:976b64c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2733 biolink:causes Orphanet:1486 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4315 infores:orphanet PMID:18204449 Assessed uuid:976b64c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8643 biolink:causes Orphanet:141276 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9586 infores:orphanet PMID:19208383 Assessed uuid:976b64c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:23384 biolink:causes Orphanet:141276 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29022 infores:orphanet PMID:21703590 Assessed uuid:976b64ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:2068 biolink:causes Orphanet:1466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3434 infores:orphanet PMID:11443545 Assessed uuid:976b64cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:2074 biolink:causes Orphanet:1466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3438 infores:orphanet PMID:20301516 Assessed uuid:976b64cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2073 biolink:causes Orphanet:1466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3437 infores:orphanet PMID:24700531 Assessed uuid:976b64cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2067 biolink:causes Orphanet:1466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3433 infores:orphanet PMID:17273966 Assessed uuid:976b64ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:5818 biolink:contributes_to Orphanet:141291 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9706 infores:orphanet PMID:16674562 Assessed uuid:976b64cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:contributes_to Orphanet:141291 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15979 infores:orphanet PMID:16740912|PMID:21567929 Assessed uuid:976b64d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3664 biolink:contributes_to Orphanet:141291 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6121 infores:orphanet PMID:17438386 Assessed uuid:976b64d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4487 biolink:contributes_to Orphanet:141291 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7391 infores:orphanet Assessed uuid:976b64d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:51702 biolink:causes Orphanet:1410 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18337 infores:orphanet PMID:27866708 Assessed loss_of_function_variant_form uuid:976b64d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7053 biolink:causes Orphanet:1410 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11779 infores:orphanet PMID:27866708 Assessed loss_of_function_variant_form uuid:976b64d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:9241 biolink:causes Orphanet:1412 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7866 infores:orphanet PMID:11545688|PMID:21538686 Assessed uuid:976b64d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4982 biolink:gene_associated_with_condition Orphanet:1416 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11909 infores:orphanet PMID:29578045 Not yet assessed uuid:976b64d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:56172 biolink:causes Orphanet:1416 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15492 infores:orphanet PMID:21102543 Assessed uuid:976b64d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:54499 biolink:causes Orphanet:1394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18188 infores:orphanet PMID:24194475 Assessed loss_of_function_variant_form uuid:976b64d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:10194 biolink:causes Orphanet:141074 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10669 infores:orphanet PMID:22152683 Assessed loss_of_function_variant_form uuid:976b64d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:54101 biolink:causes Orphanet:1401 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:496 infores:orphanet PMID:28940926|PMID:25098893 Assessed uuid:976b64da-d8a7-11f1-ae73-e4fade41113c NCBIGene:1300 biolink:causes Orphanet:174 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2185 infores:orphanet PMID:17403716 Assessed uuid:976b64db-d8a7-11f1-ae73-e4fade41113c NCBIGene:124583 biolink:causes Orphanet:1425 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19721 infores:orphanet PMID:22539336 Assessed loss_of_function_variant_form uuid:976b64dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:64131 biolink:causes Orphanet:1425 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15516 infores:orphanet PMID:24581741 Assessed loss_of_function_variant_form uuid:976b64dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:55790 biolink:causes Orphanet:1425 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24290 infores:orphanet PMID:31325655|PMID:27599773 Assessed uuid:976b64de-d8a7-11f1-ae73-e4fade41113c NCBIGene:4148 biolink:causes Orphanet:156728 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6909 infores:orphanet PMID:15121775 Assessed uuid:976b64df-d8a7-11f1-ae73-e4fade41113c NCBIGene:2512 biolink:causes Orphanet:163 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3999 infores:orphanet PMID:10759702 Assessed gain_of_function_variant_form uuid:976b64e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4047 biolink:causes Orphanet:1366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6708 infores:orphanet PMID:35413293 Assessed uuid:976b64e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6628 biolink:causes Orphanet:1393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11153 infores:orphanet PMID:25047197 Assessed uuid:976b64e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9244 biolink:causes Orphanet:157820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2364 infores:orphanet PMID:21370513|PMID:12509788|PMID:17436251 Assessed uuid:976b64e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:23529 biolink:causes Orphanet:157820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17412 infores:orphanet PMID:1678282|PMID:21370513|PMID:20400119 Assessed uuid:976b64e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:55975 biolink:causes Orphanet:157820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15646 infores:orphanet PMID:27392078 Assessed loss_of_function_variant_form uuid:976b64e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:54894 biolink:causes Orphanet:157798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18505 infores:orphanet PMID:27081527 Assessed uuid:976b64e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:23483 biolink:causes Orphanet:1388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20324 infores:orphanet PMID:25480037 Assessed uuid:976b64e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:727857 biolink:causes Orphanet:157801 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:35126 infores:orphanet PMID:25466284 Assessed uuid:976b64e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7030 biolink:gene_associated_with_condition Orphanet:157791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11752 infores:orphanet PMID:24986479 Assessed uuid:976b64e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:23261 biolink:gene_associated_with_condition Orphanet:157791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:18806 infores:orphanet PMID:24986479 Assessed uuid:976b64ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:10413 biolink:gene_associated_with_condition Orphanet:157791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:16262 infores:orphanet PMID:24986479 Assessed uuid:976b64eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:25937 biolink:gene_associated_with_condition Orphanet:157791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:24042 infores:orphanet PMID:24986479 Assessed uuid:976b64ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:22930 biolink:causes Orphanet:1387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17063 infores:orphanet PMID:23420520 Assessed loss_of_function_variant_form uuid:976b64ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:25782 biolink:causes Orphanet:1387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17168 infores:orphanet PMID:23420520 Assessed loss_of_function_variant_form uuid:976b64ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:657 biolink:causes Orphanet:157794 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1076 infores:orphanet PMID:16525031 Assessed loss_of_function_variant_form uuid:976b64ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:26585 biolink:causes Orphanet:157794 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2001 infores:orphanet PMID:22561515 Assessed uuid:976b64f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1967 biolink:causes Orphanet:157716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3257 infores:orphanet PMID:20301435 Assessed uuid:976b64f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8892 biolink:causes Orphanet:157716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3258 infores:orphanet PMID:20301435 Assessed uuid:976b64f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:8891 biolink:causes Orphanet:157716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3259 infores:orphanet PMID:20301435 Assessed uuid:976b64f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8890 biolink:causes Orphanet:157716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3260 infores:orphanet PMID:20301435 Assessed uuid:976b64f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:8893 biolink:causes Orphanet:157716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3261 infores:orphanet PMID:20301435 Assessed uuid:976b64f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1967 biolink:causes Orphanet:157719 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3257 infores:orphanet PMID:20301435 Assessed uuid:976b64f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:8892 biolink:causes Orphanet:157719 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3258 infores:orphanet PMID:20301435 Assessed uuid:976b64f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:8891 biolink:causes Orphanet:157719 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3259 infores:orphanet PMID:20301435 Assessed uuid:976b64f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8890 biolink:causes Orphanet:157719 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3260 infores:orphanet PMID:20301435 Assessed uuid:976b64f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:8893 biolink:causes Orphanet:157719 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3261 infores:orphanet PMID:20301435 Assessed uuid:976b64fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:1967 biolink:causes Orphanet:157713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3257 infores:orphanet PMID:20301435 Assessed uuid:976b64fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:8892 biolink:causes Orphanet:157713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3258 infores:orphanet PMID:20301435 Assessed uuid:976b64fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:8891 biolink:causes Orphanet:157713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3259 infores:orphanet PMID:20301435 Assessed uuid:976b64fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:8890 biolink:causes Orphanet:157713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3260 infores:orphanet PMID:20301435 Assessed uuid:976b64fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:8893 biolink:causes Orphanet:157713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3261 infores:orphanet PMID:20301435 Assessed uuid:976b64ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:1409 biolink:causes Orphanet:1377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2388 infores:orphanet PMID:21686328|PMID:21612679|PMID:17724170 Assessed uuid:976b6500-d8a7-11f1-ae73-e4fade41113c NCBIGene:1413 biolink:causes Orphanet:1377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2396 infores:orphanet PMID:20577656 Assessed uuid:976b6501-d8a7-11f1-ae73-e4fade41113c NCBIGene:1415 biolink:causes Orphanet:1377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2398 infores:orphanet PMID:21402992 Assessed uuid:976b6502-d8a7-11f1-ae73-e4fade41113c NCBIGene:1420 biolink:causes Orphanet:1377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2410 infores:orphanet PMID:22876111|PMID:19204787 Assessed uuid:976b6503-d8a7-11f1-ae73-e4fade41113c NCBIGene:1421 biolink:causes Orphanet:1377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2411 infores:orphanet PMID:17724170 Assessed uuid:976b6504-d8a7-11f1-ae73-e4fade41113c NCBIGene:2703 biolink:causes Orphanet:1377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4281 infores:orphanet PMID:20806042|PMID:17724170 Assessed uuid:976b6505-d8a7-11f1-ae73-e4fade41113c NCBIGene:1414 biolink:causes Orphanet:1377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2397 infores:orphanet PMID:16110300|PMID:21972112 Assessed uuid:976b6506-d8a7-11f1-ae73-e4fade41113c NCBIGene:4094 biolink:causes Orphanet:1377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6776 infores:orphanet PMID:17982426 Assessed uuid:976b6507-d8a7-11f1-ae73-e4fade41113c NCBIGene:142680 biolink:causes Orphanet:157215 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20305 infores:orphanet PMID:16358215 Assessed loss_of_function_variant_form uuid:976b6508-d8a7-11f1-ae73-e4fade41113c NCBIGene:6569 biolink:causes Orphanet:157215 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11019 infores:orphanet PMID:32311027 Assessed uuid:976b6509-d8a7-11f1-ae73-e4fade41113c NCBIGene:7040 biolink:causes Orphanet:1328 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11766 infores:orphanet PMID:20301335 Assessed uuid:976b650a-d8a7-11f1-ae73-e4fade41113c NCBIGene:51057 biolink:causes Orphanet:1338 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28027 infores:orphanet PMID:25427950 Assessed uuid:976b650b-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:1340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1097 infores:orphanet PMID:20301365|PMID:16825433 Assessed gain_of_function_variant_form uuid:976b650c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:causes Orphanet:1340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6407 infores:orphanet PMID:20301365|PMID:16825433 Assessed gain_of_function_variant_form uuid:976b650d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5604 biolink:causes Orphanet:1340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6840 infores:orphanet PMID:20301365|PMID:16825433 Assessed gain_of_function_variant_form uuid:976b650e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5605 biolink:causes Orphanet:1340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6842 infores:orphanet PMID:20301365|PMID:16825433 Assessed gain_of_function_variant_form uuid:976b650f-d8a7-11f1-ae73-e4fade41113c NCBIGene:268 biolink:causes Orphanet:2856 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:464 infores:orphanet PMID:23295284 Assessed uuid:976b6510-d8a7-11f1-ae73-e4fade41113c NCBIGene:269 biolink:causes Orphanet:2856 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:465 infores:orphanet PMID:23295284 Assessed uuid:976b6511-d8a7-11f1-ae73-e4fade41113c NCBIGene:7436 biolink:causes Orphanet:1766 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12698 infores:orphanet PMID:21885617 Assessed uuid:976b6512-d8a7-11f1-ae73-e4fade41113c NCBIGene:347733 biolink:causes Orphanet:1766 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30829 infores:orphanet PMID:28013290 Assessed uuid:976b6513-d8a7-11f1-ae73-e4fade41113c NCBIGene:124997 biolink:causes Orphanet:1766 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26600 infores:orphanet PMID:21885617 Assessed uuid:976b6514-d8a7-11f1-ae73-e4fade41113c NCBIGene:767 biolink:causes Orphanet:1766 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1382 infores:orphanet PMID:21812104 Assessed uuid:976b6515-d8a7-11f1-ae73-e4fade41113c NCBIGene:51761 biolink:causes Orphanet:1766 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13533 infores:orphanet PMID:22892528 Assessed uuid:976b6516-d8a7-11f1-ae73-e4fade41113c NCBIGene:113246 biolink:causes Orphanet:1777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29521 infores:orphanet PMID:23453665|PMID:23453666 Assessed uuid:976b6517-d8a7-11f1-ae73-e4fade41113c NCBIGene:6736 biolink:gene_associated_with_condition Orphanet:1772 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11311 infores:orphanet PMID:20699606 Not yet assessed uuid:976b6518-d8a7-11f1-ae73-e4fade41113c NCBIGene:10312 biolink:causes Orphanet:1782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11647 infores:orphanet PMID:30537558 Assessed uuid:976b6519-d8a7-11f1-ae73-e4fade41113c NCBIGene:8792 biolink:causes Orphanet:1782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11908 infores:orphanet PMID:29568001|PMID:31163101 Assessed uuid:976b651a-d8a7-11f1-ae73-e4fade41113c NCBIGene:55315 biolink:gene_associated_with_condition Orphanet:1782 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23096 infores:orphanet Not yet assessed uuid:976b651b-d8a7-11f1-ae73-e4fade41113c NCBIGene:10262 biolink:causes Orphanet:1788 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10771 infores:orphanet PMID:27642715 Assessed loss_of_function_variant_form uuid:976b651c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6948 biolink:causes Orphanet:859 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11653 infores:orphanet PMID:20607612 Assessed uuid:976b651d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10382 biolink:causes Orphanet:139441 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20774 infores:orphanet PMID:23582646 Assessed uuid:976b651e-d8a7-11f1-ae73-e4fade41113c NCBIGene:51569 biolink:causes Orphanet:139441 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20597 infores:orphanet PMID:28931644 Assessed uuid:976b651f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4729 biolink:causes Orphanet:139447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7717 infores:orphanet PMID:33811136 Assessed uuid:976b6520-d8a7-11f1-ae73-e4fade41113c NCBIGene:1001 biolink:causes Orphanet:1573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1762 infores:orphanet PMID:11544476|PMID:12445216|PMID:22140374 Assessed uuid:976b6521-d8a7-11f1-ae73-e4fade41113c NCBIGene:5428 biolink:causes Orphanet:726 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9179 infores:orphanet PMID:22237560|PMID:22000311|PMID:23545419 Assessed uuid:976b6522-d8a7-11f1-ae73-e4fade41113c NCBIGene:7439 biolink:causes Orphanet:139455 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12703 infores:orphanet PMID:18179881 Assessed uuid:976b6523-d8a7-11f1-ae73-e4fade41113c NCBIGene:54361 biolink:causes Orphanet:139466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12783 infores:orphanet PMID:18179883 Assessed loss_of_function_variant_form uuid:976b6524-d8a7-11f1-ae73-e4fade41113c NCBIGene:652 biolink:causes Orphanet:139471 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1071 infores:orphanet PMID:18252212 Assessed uuid:976b6525-d8a7-11f1-ae73-e4fade41113c NCBIGene:55784 biolink:gene_associated_with_condition Orphanet:1596 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:25636 infores:orphanet PMID:23773997 Assessed uuid:976b6526-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:gene_associated_with_condition Orphanet:139474 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7765 infores:orphanet PMID:22241097 Assessed uuid:976b6527-d8a7-11f1-ae73-e4fade41113c NCBIGene:10716 biolink:gene_associated_with_condition Orphanet:1617 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11590 infores:orphanet PMID:24458984 Not yet assessed uuid:976b6528-d8a7-11f1-ae73-e4fade41113c NCBIGene:4929 biolink:gene_associated_with_condition Orphanet:1617 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7981 infores:orphanet PMID:32366965 Assessed uuid:976b6529-d8a7-11f1-ae73-e4fade41113c NCBIGene:2563 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4084 infores:orphanet PMID:22766398 Assessed uuid:976b652a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3339 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5273 infores:orphanet PMID:26345236 Assessed uuid:976b652b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6497 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:10896 infores:orphanet PMID:22766398|PMID:12376748 Assessed uuid:976b652c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8514 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6229 infores:orphanet PMID:22766398|PMID:17633087 Assessed uuid:976b652d-d8a7-11f1-ae73-e4fade41113c NCBIGene:63976 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14000 infores:orphanet PMID:23768516 Assessed uuid:976b652e-d8a7-11f1-ae73-e4fade41113c NCBIGene:473 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9965 infores:orphanet PMID:27087320 Assessed uuid:976b652f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23013 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:17575 infores:orphanet PMID:26345236 Assessed uuid:976b6530-d8a7-11f1-ae73-e4fade41113c NCBIGene:54897 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:26002 infores:orphanet PMID:24454898 Assessed uuid:976b6531-d8a7-11f1-ae73-e4fade41113c NCBIGene:5590 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9412 infores:orphanet PMID:24454898 Assessed uuid:976b6532-d8a7-11f1-ae73-e4fade41113c NCBIGene:10277 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12500 infores:orphanet PMID:24454898 Assessed uuid:976b6533-d8a7-11f1-ae73-e4fade41113c NCBIGene:8510 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7171 infores:orphanet PMID:26345236 Assessed uuid:976b6534-d8a7-11f1-ae73-e4fade41113c NCBIGene:10630 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:29602 infores:orphanet PMID:26345236 Assessed uuid:976b6535-d8a7-11f1-ae73-e4fade41113c NCBIGene:7798 biolink:gene_associated_with_condition Orphanet:1606 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14985 infores:orphanet PMID:26345236 Assessed uuid:976b6536-d8a7-11f1-ae73-e4fade41113c NCBIGene:10908 biolink:causes Orphanet:139480 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16268 infores:orphanet PMID:18313024 Assessed uuid:976b6537-d8a7-11f1-ae73-e4fade41113c NCBIGene:56997 biolink:causes Orphanet:139485 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16812 infores:orphanet PMID:20301317 Assessed uuid:976b6538-d8a7-11f1-ae73-e4fade41113c NCBIGene:9896 biolink:causes Orphanet:139515 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16873 infores:orphanet PMID:24228289|PMID:20301641 Assessed uuid:976b6539-d8a7-11f1-ae73-e4fade41113c NCBIGene:2707 biolink:causes Orphanet:139512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4285 infores:orphanet PMID:11309368 Assessed uuid:976b653a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3315 biolink:causes Orphanet:139525 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5246 infores:orphanet PMID:15122254 Assessed uuid:976b653b-d8a7-11f1-ae73-e4fade41113c NCBIGene:26353 biolink:causes Orphanet:139525 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30171 infores:orphanet PMID:15122253 Assessed uuid:976b653c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8988 biolink:causes Orphanet:139525 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5248 infores:orphanet PMID:20142617 Assessed uuid:976b653d-d8a7-11f1-ae73-e4fade41113c NCBIGene:81545 biolink:causes Orphanet:139525 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28844 infores:orphanet PMID:24207122 Assessed uuid:976b653e-d8a7-11f1-ae73-e4fade41113c NCBIGene:56916 biolink:causes Orphanet:1658 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18398 infores:orphanet PMID:26932190 Assessed uuid:976b653f-d8a7-11f1-ae73-e4fade41113c NCBIGene:65055 biolink:causes Orphanet:139536 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25786 infores:orphanet PMID:22703882 Assessed uuid:976b6540-d8a7-11f1-ae73-e4fade41113c NCBIGene:26580 biolink:causes Orphanet:139536 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15832 infores:orphanet PMID:14981520 Assessed uuid:976b6541-d8a7-11f1-ae73-e4fade41113c NCBIGene:2617 biolink:causes Orphanet:139536 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4162 infores:orphanet PMID:20301420|PMID:12690580 Assessed uuid:976b6542-d8a7-11f1-ae73-e4fade41113c NCBIGene:538 biolink:causes Orphanet:139557 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:869 infores:orphanet PMID:20170900 Assessed uuid:976b6543-d8a7-11f1-ae73-e4fade41113c NCBIGene:10269 biolink:causes Orphanet:1662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12877 infores:orphanet PMID:18470519|PMID:19020898 Assessed uuid:976b6544-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:1662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:18470519|PMID:19020898 Assessed uuid:976b6545-d8a7-11f1-ae73-e4fade41113c NCBIGene:10280 biolink:causes Orphanet:139552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8157 infores:orphanet PMID:26078401 Assessed uuid:976b6546-d8a7-11f1-ae73-e4fade41113c NCBIGene:9131 biolink:causes Orphanet:139583 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8768 infores:orphanet PMID:25986071 Assessed uuid:976b6547-d8a7-11f1-ae73-e4fade41113c NCBIGene:9451 biolink:causes Orphanet:1667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3255 infores:orphanet PMID:21050479 Assessed uuid:976b6548-d8a7-11f1-ae73-e4fade41113c NCBIGene:22948 biolink:causes Orphanet:139578 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1618 infores:orphanet PMID:16399879 Assessed uuid:976b6549-d8a7-11f1-ae73-e4fade41113c NCBIGene:1639 biolink:causes Orphanet:139589 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2711 infores:orphanet PMID:12627231 Assessed uuid:976b654a-d8a7-11f1-ae73-e4fade41113c NCBIGene:60482 biolink:causes Orphanet:139589 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14025 infores:orphanet PMID:23141292 Assessed uuid:976b654b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9241 biolink:causes Orphanet:140917 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7866 infores:orphanet PMID:12089654 Assessed uuid:976b654c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:140922 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12403 infores:orphanet PMID:20301582 Assessed uuid:976b654d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9244 biolink:causes Orphanet:1545 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2364 infores:orphanet PMID:17436252|PMID:21370513 Assessed uuid:976b654e-d8a7-11f1-ae73-e4fade41113c NCBIGene:23529 biolink:causes Orphanet:1545 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17412 infores:orphanet PMID:20400119|PMID:21370513 Assessed uuid:976b654f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3990 biolink:causes Orphanet:140905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6619 infores:orphanet PMID:1301939 Assessed uuid:976b6550-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:1540 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3689 infores:orphanet PMID:20301628|PMID:21438135 Assessed uuid:976b6551-d8a7-11f1-ae73-e4fade41113c NCBIGene:9241 biolink:causes Orphanet:140908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7866 infores:orphanet PMID:17668388 Assessed uuid:976b6552-d8a7-11f1-ae73-e4fade41113c NCBIGene:92002 biolink:causes Orphanet:140952 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28434 infores:orphanet PMID:18297069 Assessed uuid:976b6553-d8a7-11f1-ae73-e4fade41113c NCBIGene:2811 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4439 infores:orphanet PMID:21933849 Assessed uuid:976b6554-d8a7-11f1-ae73-e4fade41113c NCBIGene:2812 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4440 infores:orphanet PMID:28064200 Assessed uuid:976b6555-d8a7-11f1-ae73-e4fade41113c NCBIGene:3674 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6138 infores:orphanet PMID:21454453 Assessed uuid:976b6556-d8a7-11f1-ae73-e4fade41113c NCBIGene:3690 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6156 infores:orphanet PMID:18065693|PMID:19336737 Assessed uuid:976b6557-d8a7-11f1-ae73-e4fade41113c NCBIGene:54822 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17994 infores:orphanet PMID:27020697 Assessed uuid:976b6558-d8a7-11f1-ae73-e4fade41113c NCBIGene:51807 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12410 infores:orphanet PMID:34704371 Assessed uuid:976b6559-d8a7-11f1-ae73-e4fade41113c NCBIGene:81027 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16257 infores:orphanet PMID:18849486 Assessed uuid:9773590a-d8a7-11f1-ae73-e4fade41113c NCBIGene:87 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:163 infores:orphanet PMID:23434115 Assessed uuid:9773590b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7171 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12013 infores:orphanet PMID:28134622 Assessed loss_of_function_variant_form uuid:9773590c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8328 biolink:causes Orphanet:140957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4238 infores:orphanet PMID:23927492 Assessed uuid:9773590d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:140944 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:22658544 Assessed uuid:9773590e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:1555 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3689 infores:orphanet PMID:20301628|PMID:21438135 Assessed uuid:9773590f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3483 biolink:causes Orphanet:140941 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5468 infores:orphanet PMID:21396577 Assessed uuid:97735910-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:causes Orphanet:140927 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10588 infores:orphanet PMID:12243921 Assessed uuid:97735911-d8a7-11f1-ae73-e4fade41113c NCBIGene:3785 biolink:causes Orphanet:140927 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6296 infores:orphanet PMID:23360469 Assessed uuid:97735912-d8a7-11f1-ae73-e4fade41113c NCBIGene:6608 biolink:causes Orphanet:1553 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11119 infores:orphanet PMID:27236920 Assessed uuid:97735913-d8a7-11f1-ae73-e4fade41113c NCBIGene:91147 biolink:causes Orphanet:140976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28396 infores:orphanet PMID:29891882 Assessed uuid:97735914-d8a7-11f1-ae73-e4fade41113c NCBIGene:9742 biolink:causes Orphanet:140969 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29077 infores:orphanet PMID:22503633 Assessed uuid:97735915-d8a7-11f1-ae73-e4fade41113c NCBIGene:26160 biolink:causes Orphanet:140969 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30391 infores:orphanet PMID:24140113 Assessed uuid:97735916-d8a7-11f1-ae73-e4fade41113c NCBIGene:8710 biolink:causes Orphanet:140966 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13902 infores:orphanet PMID:24207119 Assessed loss_of_function_variant_form uuid:97735917-d8a7-11f1-ae73-e4fade41113c NCBIGene:3199 biolink:causes Orphanet:140963 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5103 infores:orphanet PMID:18394579 Assessed uuid:97735918-d8a7-11f1-ae73-e4fade41113c NCBIGene:2593 biolink:causes Orphanet:382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4136 infores:orphanet PMID:20301745 Assessed uuid:97735919-d8a7-11f1-ae73-e4fade41113c NCBIGene:5184 biolink:causes Orphanet:742 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8840 infores:orphanet PMID:18340504 Assessed loss_of_function_variant_form uuid:9773591a-d8a7-11f1-ae73-e4fade41113c NCBIGene:80781 biolink:causes Orphanet:1571 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2195 infores:orphanet PMID:21862674|PMID:15714516 Assessed uuid:9773591b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5062 biolink:causes Orphanet:1571 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8591 infores:orphanet PMID:33693784 Assessed loss_of_function_variant_form uuid:9773591c-d8a7-11f1-ae73-e4fade41113c NCBIGene:221322 biolink:causes Orphanet:141007 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21485 infores:orphanet PMID:32060556 Assessed loss_of_function_variant_form uuid:9773591d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8905 biolink:causes Orphanet:1568 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:560 infores:orphanet PMID:23756445 Assessed uuid:9773591e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3897 biolink:causes Orphanet:1497 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6470 infores:orphanet PMID:20301657 Assessed uuid:9773591f-d8a7-11f1-ae73-e4fade41113c NCBIGene:63916 biolink:causes Orphanet:140436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17233 infores:orphanet PMID:27476657 Assessed loss_of_function_variant_form uuid:97735920-d8a7-11f1-ae73-e4fade41113c NCBIGene:57724 biolink:causes Orphanet:1493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29331 infores:orphanet PMID:23222957 Assessed loss_of_function_variant_form uuid:97735921-d8a7-11f1-ae73-e4fade41113c NCBIGene:9496 biolink:causes Orphanet:1509 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11603 infores:orphanet PMID:15106123 Assessed uuid:97735922-d8a7-11f1-ae73-e4fade41113c NCBIGene:4920 biolink:causes Orphanet:1507 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10257 infores:orphanet PMID:20301418 Assessed loss_of_function_variant_form uuid:97735923-d8a7-11f1-ae73-e4fade41113c NCBIGene:64359 biolink:causes Orphanet:1507 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18008 infores:orphanet PMID:29276006 Assessed loss_of_function_variant_form uuid:97735924-d8a7-11f1-ae73-e4fade41113c NCBIGene:10060 biolink:causes Orphanet:1517 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:60 infores:orphanet PMID:22608503|PMID:22610116 Assessed uuid:97735925-d8a7-11f1-ae73-e4fade41113c NCBIGene:3764 biolink:causes Orphanet:1517 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6269 infores:orphanet PMID:24700710|PMID:24176758 Assessed uuid:97735926-d8a7-11f1-ae73-e4fade41113c NCBIGene:23384 biolink:causes Orphanet:1519 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29022 infores:orphanet PMID:26111080 Assessed uuid:97735927-d8a7-11f1-ae73-e4fade41113c NCBIGene:1947 biolink:causes Orphanet:1520 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3226 infores:orphanet PMID:15124102|PMID:15166289|PMID:15959873 Assessed uuid:97735928-d8a7-11f1-ae73-e4fade41113c NCBIGene:50964 biolink:causes Orphanet:1513 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13771 infores:orphanet PMID:21221996 Assessed uuid:97735929-d8a7-11f1-ae73-e4fade41113c NCBIGene:121340 biolink:causes Orphanet:1513 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17321 infores:orphanet PMID:36436818 Assessed uuid:9773592a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9639 biolink:causes Orphanet:140481 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14103 infores:orphanet PMID:14508709 Assessed uuid:9773592b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55764 biolink:causes Orphanet:1515 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13556 infores:orphanet PMID:22791528|PMID:24027799|PMID:21438135 Assessed uuid:9773592c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57539 biolink:causes Orphanet:1515 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29250 infores:orphanet PMID:22791528|PMID:24027799|PMID:21438135 Assessed uuid:9773592d-d8a7-11f1-ae73-e4fade41113c NCBIGene:112752 biolink:causes Orphanet:1515 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29669 infores:orphanet PMID:22791528|PMID:24027799 Assessed uuid:9773592e-d8a7-11f1-ae73-e4fade41113c NCBIGene:57728 biolink:causes Orphanet:1515 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18340 infores:orphanet PMID:22791528|PMID:24027799 Assessed uuid:9773592f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51098 biolink:causes Orphanet:1515 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15901 infores:orphanet PMID:26880018|PMID:27466190 Assessed uuid:97735930-d8a7-11f1-ae73-e4fade41113c NCBIGene:5077 biolink:causes Orphanet:1529 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8617 infores:orphanet PMID:8664898 Assessed uuid:97735931-d8a7-11f1-ae73-e4fade41113c NCBIGene:56172 biolink:causes Orphanet:1522 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:15492 infores:orphanet PMID:21438135|PMID:11326338|PMID:11326272 Assessed gain_of_function_variant_form uuid:97735932-d8a7-11f1-ae73-e4fade41113c NCBIGene:2697 biolink:causes Orphanet:1522 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4274 infores:orphanet PMID:23951358 Assessed uuid:97735933-d8a7-11f1-ae73-e4fade41113c NCBIGene:3248 biolink:causes Orphanet:1525 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5154 infores:orphanet PMID:18500342|PMID:21438135 Assessed uuid:97735934-d8a7-11f1-ae73-e4fade41113c NCBIGene:100151683 biolink:causes Orphanet:1824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34016 infores:orphanet PMID:29265708 Assessed uuid:97735935-d8a7-11f1-ae73-e4fade41113c NCBIGene:6785 biolink:causes Orphanet:1955 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14415 infores:orphanet PMID:24566826 Assessed uuid:97735936-d8a7-11f1-ae73-e4fade41113c NCBIGene:5053 biolink:causes Orphanet:2209 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8582 infores:orphanet PMID:1915502 Assessed uuid:97735937-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:causes Orphanet:1896 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15979 infores:orphanet PMID:21959367|PMID:24734328 Assessed uuid:97735938-d8a7-11f1-ae73-e4fade41113c NCBIGene:1001 biolink:causes Orphanet:1897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1762 infores:orphanet PMID:15805154|PMID:22140374 Assessed uuid:97735939-d8a7-11f1-ae73-e4fade41113c NCBIGene:117581 biolink:causes Orphanet:1807 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20670 infores:orphanet Assessed uuid:9773593a-d8a7-11f1-ae73-e4fade41113c NCBIGene:26504 biolink:causes Orphanet:1873 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:105 infores:orphanet PMID:19200525|PMID:24194943 Assessed loss_of_function_variant_form uuid:9773593b-d8a7-11f1-ae73-e4fade41113c NCBIGene:23592 biolink:causes Orphanet:1879 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28887 infores:orphanet PMID:15489854|PMID:17087626 Assessed uuid:9773593c-d8a7-11f1-ae73-e4fade41113c NCBIGene:83856 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13753 infores:orphanet PMID:41742423 Assessed uuid:9773593d-d8a7-11f1-ae73-e4fade41113c NCBIGene:24 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34 infores:orphanet PMID:10958761|PMID:23776498|PMID:26992781 Assessed uuid:9773593e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:9279751|PMID:23563732 Assessed uuid:9773593f-d8a7-11f1-ae73-e4fade41113c NCBIGene:22999 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17282 infores:orphanet PMID:12659814 Assessed uuid:97735940-d8a7-11f1-ae73-e4fade41113c NCBIGene:6103 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10295 infores:orphanet PMID:11857109|PMID:23776498 Assessed uuid:97735941-d8a7-11f1-ae73-e4fade41113c NCBIGene:57096 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13436 infores:orphanet PMID:12920076|PMID:26992781 Assessed uuid:97735942-d8a7-11f1-ae73-e4fade41113c NCBIGene:778 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1393 infores:orphanet PMID:16505158|PMID:26992781 Assessed uuid:97735943-d8a7-11f1-ae73-e4fade41113c NCBIGene:23746 biolink:gene_associated_with_condition Orphanet:1872 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:359 infores:orphanet PMID:10873396 Not yet assessed uuid:97735944-d8a7-11f1-ae73-e4fade41113c NCBIGene:1261 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2150 infores:orphanet PMID:25052312 Assessed uuid:97735945-d8a7-11f1-ae73-e4fade41113c NCBIGene:1406 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2383 infores:orphanet PMID:26682157|PMID:26992781 Assessed uuid:97735946-d8a7-11f1-ae73-e4fade41113c NCBIGene:2978 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4678 infores:orphanet PMID:23428504|PMID:26992781 Assessed uuid:97735947-d8a7-11f1-ae73-e4fade41113c NCBIGene:3000 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4689 infores:orphanet PMID:20517349|PMID:26992781 Assessed uuid:97735948-d8a7-11f1-ae73-e4fade41113c NCBIGene:5956 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9936 infores:orphanet PMID:20579627 Assessed uuid:97735949-d8a7-11f1-ae73-e4fade41113c NCBIGene:2652 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4206 infores:orphanet PMID:20579627 Assessed uuid:9773594a-d8a7-11f1-ae73-e4fade41113c NCBIGene:84839 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18286 infores:orphanet PMID:15028672|PMID:25789692 Assessed uuid:9773594b-d8a7-11f1-ae73-e4fade41113c NCBIGene:64218 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10729 infores:orphanet PMID:16199541 Assessed uuid:9773594c-d8a7-11f1-ae73-e4fade41113c NCBIGene:256471 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28486 infores:orphanet PMID:25227500 Assessed uuid:9773594d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8842 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9454 infores:orphanet PMID:19718270 Assessed uuid:9773594e-d8a7-11f1-ae73-e4fade41113c NCBIGene:93589 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20202 infores:orphanet PMID:17033974 Assessed uuid:9773594f-d8a7-11f1-ae73-e4fade41113c NCBIGene:83394 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21043 infores:orphanet PMID:17377520 Assessed uuid:97735950-d8a7-11f1-ae73-e4fade41113c NCBIGene:8754 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:216 infores:orphanet PMID:19409519 Assessed uuid:97735951-d8a7-11f1-ae73-e4fade41113c NCBIGene:9094 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12565 infores:orphanet PMID:11006213|PMID:26992781 Assessed uuid:97735952-d8a7-11f1-ae73-e4fade41113c NCBIGene:92211 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14550 infores:orphanet PMID:20805371 Assessed uuid:97735953-d8a7-11f1-ae73-e4fade41113c NCBIGene:157657 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27232 infores:orphanet PMID:22177090 Assessed uuid:97735954-d8a7-11f1-ae73-e4fade41113c NCBIGene:64802 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17877 infores:orphanet PMID:28369829 Assessed uuid:97735955-d8a7-11f1-ae73-e4fade41113c NCBIGene:9364 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9768 infores:orphanet PMID:23746546 Assessed uuid:97735956-d8a7-11f1-ae73-e4fade41113c NCBIGene:282809 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30836 infores:orphanet PMID:25018096 Assessed loss_of_function_variant_form uuid:97735957-d8a7-11f1-ae73-e4fade41113c NCBIGene:128338 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28769 infores:orphanet PMID:25983245 Assessed loss_of_function_variant_form uuid:97735958-d8a7-11f1-ae73-e4fade41113c NCBIGene:22926 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:791 infores:orphanet PMID:28479318 Assessed uuid:97735959-d8a7-11f1-ae73-e4fade41113c NCBIGene:23093 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19963 infores:orphanet PMID:24791901 Assessed loss_of_function_variant_form uuid:9773595a-d8a7-11f1-ae73-e4fade41113c NCBIGene:755 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1260 infores:orphanet PMID:23105016 Assessed uuid:9773595b-d8a7-11f1-ae73-e4fade41113c NCBIGene:83723 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25295 infores:orphanet PMID:33077892 Assessed loss_of_function_variant_form uuid:9773595c-d8a7-11f1-ae73-e4fade41113c NCBIGene:390595 biolink:causes Orphanet:1872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:40028 infores:orphanet PMID:38420906 Assessed uuid:9773595d-d8a7-11f1-ae73-e4fade41113c NCBIGene:54714 biolink:causes Orphanet:1871 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2153 infores:orphanet PMID:15161866 Assessed uuid:9773595e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2780 biolink:causes Orphanet:1871 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4394 infores:orphanet PMID:14609822 Assessed uuid:9773595f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2978 biolink:causes Orphanet:1871 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4678 infores:orphanet PMID:9425234|PMID:15735604 Assessed uuid:97735960-d8a7-11f1-ae73-e4fade41113c NCBIGene:5146 biolink:causes Orphanet:1871 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8787 infores:orphanet PMID:19615668 Assessed uuid:97735961-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:1860 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3690 infores:orphanet PMID:20301540 Assessed uuid:97735962-d8a7-11f1-ae73-e4fade41113c NCBIGene:3339 biolink:causes Orphanet:1865 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5273 infores:orphanet PMID:11279527 Assessed uuid:97735963-d8a7-11f1-ae73-e4fade41113c NCBIGene:50485 biolink:causes Orphanet:1830 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11102 infores:orphanet PMID:20301550 Assessed uuid:97735964-d8a7-11f1-ae73-e4fade41113c NCBIGene:6916 biolink:causes Orphanet:1802 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11609 infores:orphanet PMID:18264100 Assessed uuid:97735965-d8a7-11f1-ae73-e4fade41113c NCBIGene:283120 biolink:causes Orphanet:2128 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4713 infores:orphanet PMID:15651076|PMID:16532391|PMID:18159214 Assessed uuid:97735966-d8a7-11f1-ae73-e4fade41113c NCBIGene:10984 biolink:causes Orphanet:2128 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6295 infores:orphanet PMID:15651076|PMID:16770802 Assessed uuid:97735967-d8a7-11f1-ae73-e4fade41113c NCBIGene:3481 biolink:causes Orphanet:2128 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5466 infores:orphanet PMID:18159214 Assessed uuid:97735968-d8a7-11f1-ae73-e4fade41113c NCBIGene:147372 biolink:causes Orphanet:2136 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29426 infores:orphanet PMID:19935664 Assessed uuid:97735969-d8a7-11f1-ae73-e4fade41113c NCBIGene:79633 biolink:causes Orphanet:2136 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23109 infores:orphanet PMID:24913602 Assessed uuid:9773596a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9508 biolink:causes Orphanet:2136 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:219 infores:orphanet PMID:28985353 Assessed loss_of_function_variant_form uuid:9773596b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6662 biolink:causes Orphanet:2138 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11204 infores:orphanet PMID:22051515 Assessed uuid:9773596c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6736 biolink:causes Orphanet:2138 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11311 infores:orphanet PMID:1740318|PMID:11912443 Assessed uuid:9773596d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2516 biolink:causes Orphanet:2138 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7983 infores:orphanet PMID:27490115 Assessed loss_of_function_variant_form uuid:9773596e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4036 biolink:causes Orphanet:2143 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6694 infores:orphanet PMID:20301732 Assessed uuid:9773596f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1641 biolink:causes Orphanet:2148 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2714 infores:orphanet PMID:20301364 Assessed uuid:97735970-d8a7-11f1-ae73-e4fade41113c NCBIGene:84181 biolink:causes Orphanet:2108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19057 infores:orphanet PMID:34021162 Assessed loss_of_function_variant_form uuid:97735971-d8a7-11f1-ae73-e4fade41113c NCBIGene:55325 biolink:causes Orphanet:2114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25640 infores:orphanet Assessed uuid:97735972-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:2117 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3688 infores:orphanet PMID:23812909 Assessed loss_of_function_variant_form uuid:97735973-d8a7-11f1-ae73-e4fade41113c NCBIGene:63895 biolink:causes Orphanet:376 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26270 infores:orphanet PMID:24726473 Assessed uuid:97735974-d8a7-11f1-ae73-e4fade41113c NCBIGene:64840 biolink:causes Orphanet:2092 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17652 infores:orphanet PMID:19586929 Assessed uuid:97735975-d8a7-11f1-ae73-e4fade41113c NCBIGene:658 biolink:causes Orphanet:2098 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1077 infores:orphanet PMID:24129431 Assessed loss_of_function_variant_form uuid:97735976-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:2098 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4220 infores:orphanet Assessed loss_of_function_variant_form uuid:97735977-d8a7-11f1-ae73-e4fade41113c NCBIGene:2737 biolink:causes Orphanet:380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4319 infores:orphanet PMID:10441342|PMID:12794692|PMID:20301619|PMID:18435847 Assessed loss_of_function_variant_form uuid:97735978-d8a7-11f1-ae73-e4fade41113c NCBIGene:29957 biolink:causes Orphanet:2095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20662 infores:orphanet PMID:29100093 Assessed uuid:97735979-d8a7-11f1-ae73-e4fade41113c NCBIGene:2512 biolink:causes Orphanet:157846 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3999 infores:orphanet PMID:16116125|PMID:23447832 Assessed uuid:9773597a-d8a7-11f1-ae73-e4fade41113c NCBIGene:84168 biolink:causes Orphanet:2067 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21014 infores:orphanet PMID:23602711 Assessed loss_of_function_variant_form uuid:9773597b-d8a7-11f1-ae73-e4fade41113c NCBIGene:84942 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25928 infores:orphanet PMID:25466283 Assessed loss_of_function_variant_form uuid:9773597c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57122 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29914 infores:orphanet PMID:28280135 Assessed uuid:9773597d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10785 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12756 infores:orphanet PMID:30079490 Assessed uuid:9773597e-d8a7-11f1-ae73-e4fade41113c NCBIGene:55644 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18028 infores:orphanet PMID:28805828 Assessed uuid:9773597f-d8a7-11f1-ae73-e4fade41113c NCBIGene:112858 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16197 infores:orphanet PMID:28805828 Assessed uuid:97735980-d8a7-11f1-ae73-e4fade41113c NCBIGene:51002 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24259 infores:orphanet PMID:28805828 Assessed uuid:97735981-d8a7-11f1-ae73-e4fade41113c NCBIGene:8270 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26058 infores:orphanet PMID:28805828 Assessed uuid:97735982-d8a7-11f1-ae73-e4fade41113c NCBIGene:55746 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18016 infores:orphanet PMID:30427554 Assessed loss_of_function_variant_form uuid:97735983-d8a7-11f1-ae73-e4fade41113c NCBIGene:84520 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20356 infores:orphanet PMID:31481669 Assessed uuid:97735984-d8a7-11f1-ae73-e4fade41113c NCBIGene:79693 biolink:causes Orphanet:2065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28905 infores:orphanet PMID:31481669 Assessed uuid:97735985-d8a7-11f1-ae73-e4fade41113c NCBIGene:5621 biolink:causes Orphanet:157941 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9449 infores:orphanet PMID:11593450|PMID:24275071 Assessed uuid:97735986-d8a7-11f1-ae73-e4fade41113c NCBIGene:2629 biolink:causes Orphanet:2072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4177 infores:orphanet PMID:10636167|PMID:20301446 Assessed uuid:97735987-d8a7-11f1-ae73-e4fade41113c NCBIGene:55131 biolink:causes Orphanet:157954 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21863 infores:orphanet PMID:18439547 Assessed loss_of_function_variant_form uuid:97735988-d8a7-11f1-ae73-e4fade41113c NCBIGene:3166 biolink:causes Orphanet:157962 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5017 infores:orphanet PMID:18423520|PMID:25574057 Assessed loss_of_function_variant_form uuid:97735989-d8a7-11f1-ae73-e4fade41113c NCBIGene:92344 biolink:causes Orphanet:2078 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25676 infores:orphanet PMID:18997784 Assessed uuid:9773598a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5831 biolink:causes Orphanet:2078 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9721 infores:orphanet PMID:21204221|PMID:24035636 Assessed uuid:9773598b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5896 biolink:causes Orphanet:157949 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9831 infores:orphanet PMID:18463379 Assessed uuid:9773598c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5897 biolink:causes Orphanet:157949 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9832 infores:orphanet PMID:18463379 Assessed uuid:9773598d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:157973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:18551513 Assessed uuid:9773598e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:gene_associated_with_condition Orphanet:2084 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3603 infores:orphanet Not yet assessed uuid:9773598f-d8a7-11f1-ae73-e4fade41113c NCBIGene:91252 biolink:causes Orphanet:157965 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20859 infores:orphanet PMID:18513683 Assessed uuid:97735990-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:1826 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3754 infores:orphanet PMID:16596676|PMID:16835913|PMID:20301567 Assessed gain_of_function_variant_form uuid:97735991-d8a7-11f1-ae73-e4fade41113c NCBIGene:6885 biolink:causes Orphanet:1826 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6859 infores:orphanet PMID:27426733 Assessed uuid:97735992-d8a7-11f1-ae73-e4fade41113c NCBIGene:10491 biolink:causes Orphanet:2050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2379 infores:orphanet PMID:30462379 Assessed uuid:97735993-d8a7-11f1-ae73-e4fade41113c NCBIGene:5034 biolink:causes Orphanet:2050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8548 infores:orphanet PMID:25683117 Assessed uuid:97735994-d8a7-11f1-ae73-e4fade41113c NCBIGene:9871 biolink:causes Orphanet:2050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10706 infores:orphanet PMID:25683121 Assessed uuid:97735995-d8a7-11f1-ae73-e4fade41113c NCBIGene:23556 biolink:causes Orphanet:2059 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8967 infores:orphanet PMID:27038415 Assessed uuid:97735996-d8a7-11f1-ae73-e4fade41113c NCBIGene:23461 biolink:causes Orphanet:2026 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:35 infores:orphanet PMID:24831815 Assessed loss_of_function_variant_form uuid:97735997-d8a7-11f1-ae73-e4fade41113c NCBIGene:118429 biolink:causes Orphanet:2028 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21732 infores:orphanet PMID:14508707 Assessed uuid:97735998-d8a7-11f1-ae73-e4fade41113c NCBIGene:1301 biolink:causes Orphanet:2021 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2186 infores:orphanet PMID:21035103 Assessed loss_of_function_variant_form uuid:97735999-d8a7-11f1-ae73-e4fade41113c NCBIGene:1302 biolink:causes Orphanet:2021 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2187 infores:orphanet PMID:22246659 Assessed uuid:9773599a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6654 biolink:causes Orphanet:2024 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11187 infores:orphanet PMID:11868160 Assessed uuid:9773599b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5978 biolink:causes Orphanet:2024 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9966 infores:orphanet PMID:28686854 Assessed uuid:9773599c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10847 biolink:causes Orphanet:2044 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16974 infores:orphanet PMID:22965468 Assessed uuid:9773599d-d8a7-11f1-ae73-e4fade41113c NCBIGene:284252 biolink:causes Orphanet:2036 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18249 infores:orphanet PMID:23541344 Assessed loss_of_function_variant_form uuid:9773599e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:158769 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet PMID:11505412 Assessed uuid:9773599f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:158766 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet PMID:11505412 Assessed uuid:977359a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:158687 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:16175511|PMID:20302578 Assessed uuid:977359a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3728 biolink:causes Orphanet:158687 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6207 infores:orphanet PMID:21320868 Assessed uuid:977359a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5339 biolink:causes Orphanet:158684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9069 infores:orphanet PMID:20052759|PMID:20301336 Assessed uuid:977359a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3691 biolink:causes Orphanet:158684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6158 infores:orphanet Assessed uuid:977359a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3852 biolink:causes Orphanet:158681 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6442 infores:orphanet PMID:12925204 Assessed uuid:977359a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:158676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:977359a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:158673 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:977359a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5317 biolink:causes Orphanet:158668 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9023 infores:orphanet PMID:19945625 Assessed loss_of_function_variant_form uuid:977359a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:158778 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6342 infores:orphanet Assessed uuid:977359a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:158775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6342 infores:orphanet Assessed uuid:977359aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:158772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet PMID:11505412 Assessed uuid:977359ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:727857 biolink:gene_associated_with_condition Orphanet:1986 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:35126 infores:orphanet PMID:25351291 Assessed uuid:977359ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:5159 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8804 infores:orphanet PMID:23255827|PMID:20301594 Assessed uuid:977359ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:23223 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29100 infores:orphanet PMID:41059649 Assessed uuid:977359ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:5155 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8800 infores:orphanet PMID:23913003|PMID:20301594 Assessed loss_of_function_variant_form uuid:977359af-d8a7-11f1-ae73-e4fade41113c NCBIGene:6575 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10947 infores:orphanet PMID:22327515|PMID:20301594 Assessed uuid:977359b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:9213 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12827 infores:orphanet PMID:25938945 Assessed uuid:977359b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:57462 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19918 infores:orphanet PMID:30649222 Assessed uuid:977359b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:58494 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14686 infores:orphanet PMID:31851307 Assessed loss_of_function_variant_form uuid:977359b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:79903 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25875 infores:orphanet PMID:38480682 Assessed loss_of_function_variant_form uuid:977359b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:129607 biolink:causes Orphanet:1980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:27015 infores:orphanet PMID:36443312 Assessed loss_of_function_variant_form uuid:977359b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:999 biolink:causes Orphanet:1997 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1748 infores:orphanet PMID:28301459 Assessed loss_of_function_variant_form uuid:977359b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1500 biolink:causes Orphanet:1997 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2515 infores:orphanet PMID:28301459 Assessed loss_of_function_variant_form uuid:977359b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7084 biolink:causes Orphanet:730740 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11831 infores:orphanet PMID:23230576 Assessed uuid:977359b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:2348 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:10739751|PMID:10587585 Assessed uuid:977359b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:54361 biolink:causes Orphanet:247768 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12783 infores:orphanet PMID:16959810|PMID:18182450 Assessed loss_of_function_variant_form uuid:977359ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:730721 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet PMID:12503095 Assessed uuid:977359bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:gene_associated_with_condition Orphanet:2353 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9585 infores:orphanet PMID:30936464 Assessed uuid:977359bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2495 biolink:causes Orphanet:247790 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3976 infores:orphanet PMID:11389486 Assessed uuid:977359bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:4595 biolink:causes Orphanet:247798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7527 infores:orphanet PMID:17489848 Assessed uuid:977359be-d8a7-11f1-ae73-e4fade41113c NCBIGene:387700 biolink:causes Orphanet:247794 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23094 infores:orphanet PMID:18304496 Assessed uuid:977359bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:7084 biolink:causes Orphanet:730746 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11831 infores:orphanet PMID:23230576 Assessed uuid:977359c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5192 biolink:causes Orphanet:247815 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8851 infores:orphanet PMID:20695019 Assessed uuid:977359c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:7084 biolink:causes Orphanet:730743 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11831 infores:orphanet PMID:23230576 Assessed uuid:977359c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2255 biolink:causes Orphanet:2363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3666 infores:orphanet PMID:16630169 Assessed uuid:977359c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:2363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3690 infores:orphanet PMID:16501574 Assessed uuid:977359c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:2363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3689 infores:orphanet PMID:16501574 Assessed uuid:977359c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:10345 biolink:causes Orphanet:730682 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12261 infores:orphanet PMID:22422768|PMID:20301466 Assessed uuid:977359c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:11277 biolink:causes Orphanet:247691 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12269 infores:orphanet PMID:17660820|PMID:18583934|PMID:20876473 Assessed uuid:977359c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:51360 biolink:causes Orphanet:2340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15455 infores:orphanet PMID:20672378 Assessed uuid:977359c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6303 biolink:gene_associated_with_condition Orphanet:2340 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10540 infores:orphanet PMID:12215835 Not yet assessed uuid:977359c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4035 biolink:causes Orphanet:2340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6692 infores:orphanet PMID:26142438 Assessed loss_of_function_variant_form uuid:977359ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:249 biolink:causes Orphanet:247685 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:438 infores:orphanet PMID:10737975|PMID:17916236|PMID:20301329 Assessed loss_of_function_variant_form uuid:977359cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:causes Orphanet:247709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9967 infores:orphanet PMID:20833330|PMID:20301434 Assessed uuid:977359cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1075 biolink:causes Orphanet:2342 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2528 infores:orphanet PMID:10662807 Assessed uuid:977359cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:causes Orphanet:247698 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9967 infores:orphanet PMID:20833330|PMID:20301434 Assessed uuid:977359ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:485 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:10406661|PMID:15895462 Assessed uuid:977359cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:10165 biolink:causes Orphanet:247585 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10983 infores:orphanet PMID:20301360 Assessed uuid:977359d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6262 biolink:causes Orphanet:730618 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10484 infores:orphanet PMID:20301466 Assessed uuid:977359d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:10165 biolink:causes Orphanet:247598 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10983 infores:orphanet PMID:20301360 Assessed uuid:977359d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:29123 biolink:causes Orphanet:2332 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21316 infores:orphanet PMID:21782149|PMID:23184435 Assessed uuid:977359d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:57679 biolink:causes Orphanet:247604 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:443 infores:orphanet PMID:19122027 Assessed uuid:977359d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:11160 biolink:causes Orphanet:247604 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1356 infores:orphanet PMID:23109145 Assessed loss_of_function_variant_form uuid:977359d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:249 biolink:causes Orphanet:247623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:438 infores:orphanet PMID:10737975|PMID:17916236|PMID:20301329 Assessed loss_of_function_variant_form uuid:977359d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:801 biolink:causes Orphanet:730657 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1442 infores:orphanet PMID:23040497|PMID:20301466 Assessed uuid:977359d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:805 biolink:causes Orphanet:730657 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1445 infores:orphanet PMID:24917665|PMID:37528649 Assessed uuid:977359d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:808 biolink:causes Orphanet:730657 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1449 infores:orphanet PMID:37528649 Assessed uuid:977359d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:249 biolink:causes Orphanet:247638 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:438 infores:orphanet PMID:10737975|PMID:17916236|PMID:20301329 Assessed loss_of_function_variant_form uuid:977359da-d8a7-11f1-ae73-e4fade41113c NCBIGene:362 biolink:causes Orphanet:2337 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:638 infores:orphanet PMID:23830519 Assessed gain_of_function_variant_form uuid:977359db-d8a7-11f1-ae73-e4fade41113c NCBIGene:249 biolink:causes Orphanet:247651 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:438 infores:orphanet PMID:10737975|PMID:17916236|PMID:20301329 Assessed loss_of_function_variant_form uuid:977359dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:845 biolink:causes Orphanet:730631 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1513 infores:orphanet PMID:20301466 Assessed uuid:977359dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:249 biolink:causes Orphanet:247667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:438 infores:orphanet PMID:10737975|PMID:17916236|PMID:20301329 Assessed loss_of_function_variant_form uuid:977359de-d8a7-11f1-ae73-e4fade41113c NCBIGene:253017 biolink:causes Orphanet:730644 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27365 infores:orphanet PMID:27861123 Assessed uuid:977359df-d8a7-11f1-ae73-e4fade41113c NCBIGene:249 biolink:causes Orphanet:247676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:438 infores:orphanet PMID:10737975|PMID:17916236|PMID:20301329 Assessed loss_of_function_variant_form uuid:977359e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2706 biolink:causes Orphanet:494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4284 infores:orphanet PMID:20854437|PMID:22960825 Assessed uuid:977359e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8085 biolink:causes Orphanet:2322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7133 infores:orphanet PMID:21882399 Assessed uuid:977359e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7403 biolink:causes Orphanet:2322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12637 infores:orphanet PMID:21882399|PMID:22197486 Assessed uuid:977359e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:669 biolink:causes Orphanet:247378 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1093 infores:orphanet PMID:34440325 Assessed loss_of_function_variant_form uuid:977359e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3040 biolink:causes Orphanet:247511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4824 infores:orphanet PMID:34440325 Assessed uuid:977359e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:247511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:34440325 Assessed uuid:977359e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3039 biolink:causes Orphanet:247511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4823 infores:orphanet PMID:34440325 Assessed uuid:977359e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:54583 biolink:causes Orphanet:247511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1232 infores:orphanet PMID:16407130|PMID:24115288 Assessed loss_of_function_variant_form uuid:977359e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2034 biolink:causes Orphanet:247511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3374 infores:orphanet PMID:18184961|PMID:24115288 Assessed gain_of_function_variant_form uuid:977359e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2056 biolink:causes Orphanet:247511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3415 infores:orphanet PMID:29514032 Assessed gain_of_function_variant_form uuid:977359ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:6905 biolink:causes Orphanet:2323 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11582 infores:orphanet PMID:12389028 Assessed uuid:977359eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6103 biolink:causes Orphanet:247522 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10295 infores:orphanet PMID:12920075|PMID:16055928 Assessed uuid:977359ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:445 biolink:causes Orphanet:247546 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:758 infores:orphanet PMID:20301631 Assessed loss_of_function_variant_form uuid:977359ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:445 biolink:causes Orphanet:247573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:758 infores:orphanet PMID:20301631 Assessed loss_of_function_variant_form uuid:977359ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:3909 biolink:causes Orphanet:2407 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6483 infores:orphanet PMID:12915477|PMID:23869449 Assessed uuid:977359ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:51592 biolink:causes Orphanet:2412 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16290 infores:orphanet PMID:39054052 Assessed uuid:977359f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2243 biolink:causes Orphanet:248408 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3661 infores:orphanet PMID:14615374 Assessed uuid:977359f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2244 biolink:causes Orphanet:248408 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3662 infores:orphanet PMID:22955321 Assessed uuid:977359f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2266 biolink:causes Orphanet:248408 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3694 infores:orphanet PMID:15632207 Assessed uuid:977359f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:2396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3688 infores:orphanet PMID:26942290 Assessed uuid:977359f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:gene_associated_with_condition Orphanet:2396 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6407 infores:orphanet PMID:26970110 Not yet assessed uuid:977359f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2313 biolink:causes Orphanet:248340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3749 infores:orphanet PMID:24100448 Assessed uuid:977359f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:23230 biolink:causes Orphanet:2388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1908 infores:orphanet PMID:20301561 Assessed uuid:977359f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3064 biolink:causes Orphanet:248111 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4851 infores:orphanet PMID:17181545 Assessed uuid:977359f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5333 biolink:causes Orphanet:2387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9060 infores:orphanet PMID:21665001 Assessed uuid:977359f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:116442 biolink:causes Orphanet:2379 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16499 infores:orphanet PMID:25434005 Assessed loss_of_function_variant_form uuid:977359fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:94137 biolink:causes Orphanet:247834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15946 infores:orphanet PMID:20826268 Assessed uuid:977359fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5252 biolink:gene_associated_with_condition Orphanet:730892 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8919 infores:orphanet PMID:22796436 Assessed uuid:977359fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:81607 biolink:causes Orphanet:247820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19688 infores:orphanet PMID:20691405|PMID:21346770 Assessed uuid:977359fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:64327 biolink:causes Orphanet:2378 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13243 infores:orphanet PMID:24456159 Assessed uuid:977359fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:91662 biolink:causes Orphanet:247868 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22938 infores:orphanet PMID:18230725 Assessed uuid:977359ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:7010 biolink:causes Orphanet:2451 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11724 infores:orphanet PMID:20301733 Assessed gain_of_function_variant_form uuid:97735a00-d8a7-11f1-ae73-e4fade41113c NCBIGene:6569 biolink:causes Orphanet:244305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11019 infores:orphanet PMID:12324554 Assessed uuid:97735a01-d8a7-11f1-ae73-e4fade41113c NCBIGene:9368 biolink:causes Orphanet:244305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11075 infores:orphanet PMID:18784102 Assessed uuid:97735a02-d8a7-11f1-ae73-e4fade41113c NCBIGene:55997 biolink:gene_associated_with_condition Orphanet:244283 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:18292 infores:orphanet PMID:18162845 Not yet assessed uuid:97735a03-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:causes Orphanet:2440 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15979 infores:orphanet PMID:10839977 Assessed uuid:97735a04-d8a7-11f1-ae73-e4fade41113c NCBIGene:7979 biolink:gene_associated_with_condition Orphanet:2440 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10845 infores:orphanet PMID:23169702 Not yet assessed uuid:97735a05-d8a7-11f1-ae73-e4fade41113c NCBIGene:7480 biolink:causes Orphanet:2440 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12775 infores:orphanet PMID:18515319|PMID:20635353 Assessed uuid:97735a06-d8a7-11f1-ae73-e4fade41113c NCBIGene:1749 biolink:causes Orphanet:2440 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2918 infores:orphanet PMID:24496061 Assessed uuid:97735a07-d8a7-11f1-ae73-e4fade41113c NCBIGene:8945 biolink:gene_associated_with_condition Orphanet:2440 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1144 infores:orphanet PMID:24115638|PMID:16691619 Not yet assessed uuid:97735a08-d8a7-11f1-ae73-e4fade41113c NCBIGene:1750 biolink:causes Orphanet:2440 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2919 infores:orphanet PMID:28611547 Assessed uuid:97735a09-d8a7-11f1-ae73-e4fade41113c NCBIGene:58513 biolink:causes Orphanet:2440 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24634 infores:orphanet PMID:29023680 Assessed loss_of_function_variant_form uuid:97735a0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6468 biolink:gene_associated_with_condition Orphanet:2440 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:10847 infores:orphanet PMID:16235095 Assessed uuid:97735a0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:91869 biolink:causes Orphanet:244310 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30220 infores:orphanet PMID:20301507 Assessed uuid:97735a0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4179 biolink:gene_associated_with_condition Orphanet:244242 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6953 infores:orphanet PMID:17914026 Not yet assessed uuid:97735a0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3075 biolink:gene_associated_with_condition Orphanet:244242 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4883 infores:orphanet PMID:18658028|PMID:22594569 Not yet assessed uuid:97735a0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3426 biolink:gene_associated_with_condition Orphanet:244242 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:5394 infores:orphanet PMID:18658028|PMID:22594569 Not yet assessed uuid:97735a0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:101101692 biolink:contributes_to Orphanet:244242 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:43984 infores:orphanet PMID:23093777 Assessed uuid:97735a10-d8a7-11f1-ae73-e4fade41113c NCBIGene:5745 biolink:causes Orphanet:296 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9608 infores:orphanet PMID:11850620|PMID:18559376 Assessed loss_of_function_variant_form uuid:97735a11-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:causes Orphanet:296 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5383 infores:orphanet PMID:22057236|PMID:22057234 Assessed uuid:97735a12-d8a7-11f1-ae73-e4fade41113c NCBIGene:3417 biolink:causes Orphanet:296 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5382 infores:orphanet PMID:22057236|PMID:22057234 Assessed uuid:97735a13-d8a7-11f1-ae73-e4fade41113c NCBIGene:3075 biolink:gene_associated_with_condition Orphanet:244275 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:4883 infores:orphanet Assessed uuid:97735a14-d8a7-11f1-ae73-e4fade41113c NCBIGene:3426 biolink:gene_associated_with_condition Orphanet:244275 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5394 infores:orphanet Assessed uuid:97735a15-d8a7-11f1-ae73-e4fade41113c NCBIGene:3209 biolink:causes Orphanet:2438 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5102 infores:orphanet PMID:20301596 Assessed uuid:97735a16-d8a7-11f1-ae73-e4fade41113c NCBIGene:29958 biolink:causes Orphanet:243343 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24475 infores:orphanet PMID:11231903 Assessed uuid:97735a17-d8a7-11f1-ae73-e4fade41113c NCBIGene:3030 biolink:causes Orphanet:243367 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4801 infores:orphanet PMID:28515471 Assessed uuid:97735a18-d8a7-11f1-ae73-e4fade41113c NCBIGene:26525 biolink:causes Orphanet:247353 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15561 infores:orphanet PMID:21839423 Assessed loss_of_function_variant_form uuid:97735a19-d8a7-11f1-ae73-e4fade41113c NCBIGene:130340 biolink:causes Orphanet:247353 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18971 infores:orphanet PMID:24791904 Assessed uuid:97735a1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:55650 biolink:causes Orphanet:247262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26031 infores:orphanet PMID:24129430 Assessed uuid:97735a1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9487 biolink:causes Orphanet:247262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8966 infores:orphanet PMID:25706356 Assessed uuid:97735a1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84720 biolink:causes Orphanet:247262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23215 infores:orphanet PMID:22683086 Assessed uuid:97735a1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:27315 biolink:causes Orphanet:247262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17893 infores:orphanet PMID:23561847|PMID:23561846 Assessed uuid:97735a1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:93210 biolink:causes Orphanet:247262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23719 infores:orphanet PMID:24439110 Assessed loss_of_function_variant_form uuid:97735a1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:284098 biolink:causes Orphanet:247262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23213 infores:orphanet PMID:24367057 Assessed uuid:97735a20-d8a7-11f1-ae73-e4fade41113c NCBIGene:84992 biolink:causes Orphanet:247262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28213 infores:orphanet PMID:26293662 Assessed loss_of_function_variant_form uuid:97735a21-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:2484 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3754 infores:orphanet PMID:20186808|PMID:21031081 Assessed gain_of_function_variant_form uuid:97735a22-d8a7-11f1-ae73-e4fade41113c NCBIGene:51091 biolink:causes Orphanet:247198 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30605 infores:orphanet PMID:20920667 Assessed uuid:97735a23-d8a7-11f1-ae73-e4fade41113c NCBIGene:55275 biolink:causes Orphanet:247198 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25608 infores:orphanet PMID:24577744 Assessed uuid:97735a24-d8a7-11f1-ae73-e4fade41113c NCBIGene:51256 biolink:causes Orphanet:2477 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21066 infores:orphanet PMID:23687350 Assessed loss_of_function_variant_form uuid:97735a25-d8a7-11f1-ae73-e4fade41113c NCBIGene:8195 biolink:causes Orphanet:2473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7108 infores:orphanet PMID:20301675 Assessed uuid:97735a26-d8a7-11f1-ae73-e4fade41113c NCBIGene:64220 biolink:causes Orphanet:2470 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30650 infores:orphanet PMID:17503335 Assessed uuid:97735a27-d8a7-11f1-ae73-e4fade41113c NCBIGene:7477 biolink:causes Orphanet:2470 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12787 infores:orphanet PMID:35790350 Assessed uuid:97735a28-d8a7-11f1-ae73-e4fade41113c NCBIGene:4784 biolink:causes Orphanet:561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7788 infores:orphanet PMID:20673863 Assessed uuid:97735a29-d8a7-11f1-ae73-e4fade41113c NCBIGene:64374 biolink:causes Orphanet:559 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24624 infores:orphanet PMID:20301371|PMID:16650075 Assessed loss_of_function_variant_form uuid:97735a2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:gene_associated_with_condition Orphanet:2462 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3603 infores:orphanet PMID:20301454|PMID:8563763|PMID:9338588|PMID:16333834 Not yet assessed uuid:97735a2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6497 biolink:causes Orphanet:2462 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10896 infores:orphanet PMID:23023332 Assessed uuid:97735a2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:63895 biolink:causes Orphanet:2461 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26270 infores:orphanet PMID:24726473 Assessed uuid:97735a2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:gene_associated_with_condition Orphanet:251630 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5383 infores:orphanet PMID:23681562|PMID:19228619|PMID:19554337|PMID:23109653|PMID:24149775|PMID:20714900|PMID:21075857 Assessed uuid:97735a2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:25913 biolink:contributes_to Orphanet:251630 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17284 infores:orphanet PMID:25482530 Assessed uuid:97735a2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:65998 biolink:gene_associated_with_condition Orphanet:251636 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:28449 infores:orphanet PMID:24553141 Assessed uuid:97735a30-d8a7-11f1-ae73-e4fade41113c NCBIGene:118429 biolink:causes Orphanet:2176 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21732 infores:orphanet PMID:14508707 Assessed uuid:97735a31-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:gene_associated_with_condition Orphanet:251656 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5383 infores:orphanet PMID:19228619|PMID:19554337|PMID:23109653|PMID:24149775|PMID:20714900|PMID:21075857 Assessed uuid:97735a32-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:gene_associated_with_condition Orphanet:251663 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5383 infores:orphanet PMID:19228619|PMID:19554337|PMID:23109653|PMID:24149775|PMID:20714900|PMID:21075857 Assessed uuid:97735a33-d8a7-11f1-ae73-e4fade41113c NCBIGene:4602 biolink:gene_associated_with_condition Orphanet:251671 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7545 infores:orphanet PMID:26829751 Assessed uuid:97735a34-d8a7-11f1-ae73-e4fade41113c NCBIGene:9444 biolink:gene_associated_with_condition Orphanet:251671 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:21100 infores:orphanet PMID:26829751 Assessed uuid:97735a35-d8a7-11f1-ae73-e4fade41113c NCBIGene:219844 biolink:causes Orphanet:2189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26558 infores:orphanet PMID:15843405|PMID:18648327 Assessed uuid:97735a36-d8a7-11f1-ae73-e4fade41113c NCBIGene:374654 biolink:causes Orphanet:2189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30497 infores:orphanet PMID:21552264 Assessed uuid:97735a37-d8a7-11f1-ae73-e4fade41113c NCBIGene:4330 biolink:gene_associated_with_condition Orphanet:251679 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7180 infores:orphanet PMID:31111274 Assessed uuid:97735a38-d8a7-11f1-ae73-e4fade41113c NCBIGene:3848 biolink:causes Orphanet:312 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6412 infores:orphanet PMID:1380725|PMID:7512983 Assessed uuid:97735a39-d8a7-11f1-ae73-e4fade41113c NCBIGene:3858 biolink:causes Orphanet:312 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6413 infores:orphanet PMID:1380725|PMID:7512983 Assessed uuid:97735a3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:149461 biolink:causes Orphanet:2196 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2040 infores:orphanet PMID:17033971 Assessed uuid:97735a3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5468 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:9236 infores:orphanet PMID:10851250 Assessed uuid:97735a3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:11998 infores:orphanet PMID:17785346 Assessed uuid:97735a3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1956 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3236 infores:orphanet PMID:24075187|PMID:24071942 Assessed uuid:97735a3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3688 infores:orphanet PMID:22837387 Assessed uuid:97735a3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3690 infores:orphanet PMID:22837387 Assessed uuid:97735a40-d8a7-11f1-ae73-e4fade41113c NCBIGene:4792 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:7797 infores:orphanet PMID:25215581 Assessed uuid:97735a41-d8a7-11f1-ae73-e4fade41113c NCBIGene:3417 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5382 infores:orphanet PMID:18772396 Assessed uuid:97735a42-d8a7-11f1-ae73-e4fade41113c NCBIGene:10460 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11524 infores:orphanet PMID:22837387 Assessed uuid:97735a43-d8a7-11f1-ae73-e4fade41113c NCBIGene:6867 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11522 infores:orphanet PMID:22837387 Assessed uuid:97735a44-d8a7-11f1-ae73-e4fade41113c NCBIGene:4255 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:7059 infores:orphanet PMID:22380407|PMID:20556478 Assessed uuid:97735a45-d8a7-11f1-ae73-e4fade41113c NCBIGene:8216 biolink:causes Orphanet:251576 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6742 infores:orphanet PMID:24071842|PMID:23917401 Assessed uuid:97735a46-d8a7-11f1-ae73-e4fade41113c NCBIGene:346288 biolink:gene_associated_with_condition Orphanet:251576 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:33280 infores:orphanet PMID:24075187|PMID:24071942 Assessed uuid:97735a47-d8a7-11f1-ae73-e4fade41113c NCBIGene:5468 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:9236 infores:orphanet PMID:10851250 Assessed uuid:97735a48-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:11998 infores:orphanet PMID:17785346 Assessed uuid:97735a49-d8a7-11f1-ae73-e4fade41113c NCBIGene:1956 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3236 infores:orphanet PMID:24075187|PMID:24071942 Assessed uuid:97735a4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3688 infores:orphanet PMID:22837387 Assessed uuid:97735a4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3690 infores:orphanet PMID:22837387 Assessed uuid:97735a4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4792 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:7797 infores:orphanet PMID:25215581 Assessed uuid:97735a4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3417 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5382 infores:orphanet PMID:18772396 Assessed uuid:97735a4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10460 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11524 infores:orphanet PMID:22837387 Assessed uuid:97735a4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6867 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11522 infores:orphanet PMID:22837387 Assessed uuid:97735a50-d8a7-11f1-ae73-e4fade41113c NCBIGene:4255 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:7059 infores:orphanet PMID:22380407|PMID:20556478 Assessed uuid:97735a51-d8a7-11f1-ae73-e4fade41113c NCBIGene:8216 biolink:causes Orphanet:251579 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6742 infores:orphanet PMID:24075187|PMID:24071842 Assessed uuid:97735a52-d8a7-11f1-ae73-e4fade41113c NCBIGene:346288 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:33280 infores:orphanet PMID:24075187|PMID:24071942 Assessed uuid:97735a53-d8a7-11f1-ae73-e4fade41113c NCBIGene:6098 biolink:gene_associated_with_condition Orphanet:251579 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10261 infores:orphanet PMID:38845690 Assessed uuid:97735a54-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:gene_associated_with_condition Orphanet:251589 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5383 infores:orphanet PMID:24993250|PMID:19228619|PMID:19554337|PMID:23109653|PMID:24149775|PMID:20714900|PMID:21075857 Assessed uuid:97735a55-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:gene_associated_with_condition Orphanet:251598 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5383 infores:orphanet PMID:19228619|PMID:19554337|PMID:23109653|PMID:24149775|PMID:20714900|PMID:21075857 Assessed uuid:97735a56-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:gene_associated_with_condition Orphanet:251604 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5383 infores:orphanet PMID:19228619|PMID:19554337|PMID:23109653|PMID:24149775|PMID:20714900|PMID:21075857 Assessed uuid:97735a57-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:gene_associated_with_condition Orphanet:251601 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5383 infores:orphanet PMID:19228619|PMID:19554337|PMID:23109653|PMID:24149775|PMID:20714900|PMID:21075857 Assessed uuid:97735a58-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:251615 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:22159586|PMID:21190184 Assessed uuid:97735a59-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:gene_associated_with_condition Orphanet:251615 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1097 infores:orphanet PMID:22159586|PMID:18974108 Assessed uuid:97735a5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:251615 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3688 infores:orphanet PMID:23817572 Assessed uuid:97735a5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:causes Orphanet:251615 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6407 infores:orphanet PMID:22159586|PMID:21424530|PMID:19373855 Assessed uuid:97735a5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5894 biolink:gene_associated_with_condition Orphanet:251615 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9829 infores:orphanet PMID:22159586|PMID:19363522 Assessed uuid:97735a5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57670 biolink:gene_associated_with_condition Orphanet:251615 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:22219 infores:orphanet PMID:22159586|PMID:18974108 Assessed uuid:97735a5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:9901 biolink:gene_associated_with_condition Orphanet:251615 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:19744 infores:orphanet PMID:22159586|PMID:19363522 Assessed uuid:97735a5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4915 biolink:gene_associated_with_condition Orphanet:251615 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8032 infores:orphanet PMID:23817572 Assessed uuid:97735a60-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:gene_associated_with_condition Orphanet:251627 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5383 infores:orphanet PMID:23681562|PMID:19228619|PMID:19554337|PMID:23109653|PMID:24149775|PMID:20714900|PMID:21075857 Assessed uuid:97735a61-d8a7-11f1-ae73-e4fade41113c NCBIGene:25913 biolink:contributes_to Orphanet:251627 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17284 infores:orphanet PMID:25482530 Assessed uuid:97735a62-d8a7-11f1-ae73-e4fade41113c NCBIGene:4552 biolink:causes Orphanet:2169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7473 infores:orphanet PMID:20301503 Assessed uuid:97735a63-d8a7-11f1-ae73-e4fade41113c NCBIGene:4487 biolink:causes Orphanet:2228 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7391 infores:orphanet PMID:11369996 Assessed uuid:97735a64-d8a7-11f1-ae73-e4fade41113c NCBIGene:6999 biolink:causes Orphanet:2224 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11708 infores:orphanet PMID:28285122 Assessed uuid:97735a65-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:2229 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:19283854 Assessed uuid:97735a66-d8a7-11f1-ae73-e4fade41113c NCBIGene:2625 biolink:causes Orphanet:2237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4172 infores:orphanet PMID:10935639|PMID:21120445|PMID:23757620 Assessed loss_of_function_variant_form uuid:97735a67-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:contributes_to Orphanet:251992 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:427 infores:orphanet PMID:20301782 Assessed uuid:97735a68-d8a7-11f1-ae73-e4fade41113c NCBIGene:3848 biolink:causes Orphanet:2199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6412 infores:orphanet PMID:16439967 Assessed gain_of_function_variant_form uuid:97735a69-d8a7-11f1-ae73-e4fade41113c NCBIGene:3868 biolink:gene_associated_with_condition Orphanet:2199 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6423 infores:orphanet PMID:8595410 Assessed uuid:97735a6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3857 biolink:causes Orphanet:2199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6447 infores:orphanet PMID:12192490|PMID:12072061|PMID:23397986|PMID:24899405 Assessed uuid:97735a6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51684 biolink:contributes_to Orphanet:251863 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16466 infores:orphanet PMID:21188540|PMID:22508808|PMID:12068298|PMID:19833601 Assessed uuid:97735a6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:79651 biolink:causes Orphanet:2198 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:20788 infores:orphanet PMID:22265016 Assessed gain_of_function_variant_form uuid:97735a6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:51684 biolink:contributes_to Orphanet:251858 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16466 infores:orphanet PMID:21188540|PMID:22508808|PMID:12068298|PMID:19833601 Assessed uuid:97735a6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:contributes_to Orphanet:251877 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:427 infores:orphanet PMID:20301782 Assessed uuid:97735a6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2706 biolink:causes Orphanet:2202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4284 infores:orphanet PMID:10633135|PMID:17993581 Assessed uuid:97735a70-d8a7-11f1-ae73-e4fade41113c NCBIGene:4574 biolink:causes Orphanet:2202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7497 infores:orphanet PMID:9450881|PMID:11069477 Assessed uuid:97735a71-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:251899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:21445348 Assessed uuid:97735a72-d8a7-11f1-ae73-e4fade41113c NCBIGene:23314 biolink:gene_associated_with_condition Orphanet:251019 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:21637 infores:orphanet PMID:16179223 Assessed uuid:97735a73-d8a7-11f1-ae73-e4fade41113c NCBIGene:23314 biolink:gene_associated_with_condition Orphanet:251028 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:21637 infores:orphanet PMID:19668335|PMID:21343628 Assessed uuid:97735a74-d8a7-11f1-ae73-e4fade41113c NCBIGene:2737 biolink:causes Orphanet:672 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4319 infores:orphanet PMID:20301638 Assessed uuid:97735a75-d8a7-11f1-ae73-e4fade41113c NCBIGene:3849 biolink:causes Orphanet:455 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6439 infores:orphanet PMID:15949009 Assessed uuid:97735a76-d8a7-11f1-ae73-e4fade41113c NCBIGene:93986 biolink:gene_associated_with_condition Orphanet:251061 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:13875 infores:orphanet PMID:17330859|PMID:22144704 Assessed uuid:97735a77-d8a7-11f1-ae73-e4fade41113c NCBIGene:286 biolink:gene_associated_with_condition Orphanet:251066 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:492 infores:orphanet PMID:22771917 Assessed uuid:97735a78-d8a7-11f1-ae73-e4fade41113c NCBIGene:2626 biolink:gene_associated_with_condition Orphanet:251071 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4173 infores:orphanet PMID:10090897|PMID:19606479 Assessed uuid:97735a79-d8a7-11f1-ae73-e4fade41113c NCBIGene:51360 biolink:causes Orphanet:2273 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15455 infores:orphanet PMID:21600032 Assessed uuid:97735a7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:50814 biolink:causes Orphanet:139 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13398 infores:orphanet PMID:10710235|PMID:11907515 Assessed uuid:97735a7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:26154 biolink:causes Orphanet:457 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14637 infores:orphanet PMID:20301593|PMID:19179616 Assessed uuid:97735a7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57492 biolink:gene_associated_with_condition Orphanet:251056 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:18040 infores:orphanet PMID:22405089 Not yet assessed uuid:97735a7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9247 biolink:causes Orphanet:2239 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4198 infores:orphanet PMID:11602629 Assessed loss_of_function_variant_form uuid:97735a7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4629 biolink:causes Orphanet:2241 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7569 infores:orphanet PMID:25407000 Assessed loss_of_function_variant_form uuid:97735a7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4638 biolink:causes Orphanet:2241 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7590 infores:orphanet PMID:28602422 Assessed loss_of_function_variant_form uuid:97735a80-d8a7-11f1-ae73-e4fade41113c NCBIGene:72 biolink:causes Orphanet:2241 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:145 infores:orphanet PMID:24676022 Assessed uuid:97735a81-d8a7-11f1-ae73-e4fade41113c NCBIGene:25802 biolink:causes Orphanet:2241 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6647 infores:orphanet PMID:28292896 Assessed loss_of_function_variant_form uuid:97735a82-d8a7-11f1-ae73-e4fade41113c NCBIGene:1297 biolink:causes Orphanet:250984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2217 infores:orphanet Assessed uuid:97735a83-d8a7-11f1-ae73-e4fade41113c NCBIGene:1298 biolink:causes Orphanet:250984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2218 infores:orphanet PMID:21671392 Assessed loss_of_function_variant_form uuid:97735a84-d8a7-11f1-ae73-e4fade41113c NCBIGene:1299 biolink:causes Orphanet:250984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2219 infores:orphanet PMID:24273071 Assessed loss_of_function_variant_form uuid:97735a85-d8a7-11f1-ae73-e4fade41113c NCBIGene:84695 biolink:causes Orphanet:250984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13869 infores:orphanet PMID:25663169 Assessed uuid:97735a86-d8a7-11f1-ae73-e4fade41113c NCBIGene:471 biolink:causes Orphanet:250977 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:794 infores:orphanet PMID:15114530 Assessed uuid:97735a87-d8a7-11f1-ae73-e4fade41113c NCBIGene:23347 biolink:causes Orphanet:2250 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29090 infores:orphanet PMID:28067911|PMID:28067909 Assessed uuid:97735a88-d8a7-11f1-ae73-e4fade41113c NCBIGene:2296 biolink:causes Orphanet:250923 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3800 infores:orphanet PMID:19279310|PMID:27124303 Assessed uuid:97735a89-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:250923 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8620 infores:orphanet PMID:20301534|PMID:9138149 Assessed loss_of_function_variant_form uuid:97735a8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:54765 biolink:causes Orphanet:250923 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:19016 infores:orphanet PMID:26394807 Assessed gain_of_function_variant_form uuid:97735a8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51807 biolink:causes Orphanet:250972 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12410 infores:orphanet PMID:19896110 Assessed uuid:97735a8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2627 biolink:causes Orphanet:2255 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4174 infores:orphanet PMID:22158542|PMID:22962692 Assessed loss_of_function_variant_form uuid:97735a8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:251380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:20301551 Assessed uuid:97735a8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:53335 biolink:gene_associated_with_condition Orphanet:251380 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:13221 infores:orphanet Not yet assessed uuid:97735a8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3047 biolink:causes Orphanet:251380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4831 infores:orphanet PMID:8598197|PMID:2468996 Assessed uuid:97735a90-d8a7-11f1-ae73-e4fade41113c NCBIGene:3048 biolink:causes Orphanet:251380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4832 infores:orphanet PMID:8598197|PMID:2468996 Assessed uuid:97735a91-d8a7-11f1-ae73-e4fade41113c NCBIGene:10661 biolink:causes Orphanet:251380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6345 infores:orphanet PMID:20676099 Assessed uuid:97735a92-d8a7-11f1-ae73-e4fade41113c NCBIGene:50814 biolink:causes Orphanet:251383 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13398 infores:orphanet PMID:21129721|PMID:21290788 Assessed loss_of_function_variant_form uuid:97735a93-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:251370 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:20301551 Assessed uuid:97735a94-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:251375 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:20301551 Assessed uuid:97735a95-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:251365 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:20301551 Assessed uuid:97735a96-d8a7-11f1-ae73-e4fade41113c NCBIGene:157570 biolink:causes Orphanet:2319 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27230 infores:orphanet PMID:32977150 Assessed uuid:97735a97-d8a7-11f1-ae73-e4fade41113c NCBIGene:9051 biolink:causes Orphanet:251523 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9580 infores:orphanet PMID:26025129 Assessed uuid:97735a98-d8a7-11f1-ae73-e4fade41113c NCBIGene:197131 biolink:causes Orphanet:2315 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16808 infores:orphanet PMID:21931868|PMID:16311597|PMID:23652379 Assessed loss_of_function_variant_form uuid:97735a99-d8a7-11f1-ae73-e4fade41113c NCBIGene:6662 biolink:causes Orphanet:251510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11204 infores:orphanet PMID:22051515 Assessed uuid:97735a9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6736 biolink:causes Orphanet:251510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11311 infores:orphanet PMID:17493621 Assessed uuid:97735a9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:gene_associated_with_condition Orphanet:251510 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12796 infores:orphanet PMID:25613702 Not yet assessed uuid:97735a9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:51741 biolink:causes Orphanet:251510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12799 infores:orphanet PMID:22071891 Assessed uuid:97735a9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:23414 biolink:causes Orphanet:251510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16700 infores:orphanet PMID:24549039 Assessed uuid:97735a9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2626 biolink:causes Orphanet:251510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4173 infores:orphanet PMID:21220346 Assessed loss_of_function_variant_form uuid:97735a9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:190 biolink:gene_associated_with_condition Orphanet:251510 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7960 infores:orphanet PMID:18384427 Assessed uuid:97735aa0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2516 biolink:causes Orphanet:251510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7983 infores:orphanet PMID:25580123 Assessed uuid:97735aa1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4214 biolink:causes Orphanet:251510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6848 infores:orphanet PMID:21129722 Assessed uuid:97735aa2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6845 biolink:gene_associated_with_condition Orphanet:251510 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11486 infores:orphanet PMID:24880616 Assessed uuid:97735aa3-d8a7-11f1-ae73-e4fade41113c NCBIGene:57647 biolink:causes Orphanet:251510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17210 infores:orphanet PMID:31337883 Assessed uuid:97735aa4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3868 biolink:causes Orphanet:2309 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6423 infores:orphanet PMID:20301457 Assessed uuid:97735aa5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3872 biolink:causes Orphanet:2309 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6427 infores:orphanet PMID:20301457 Assessed uuid:97735aa6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3853 biolink:causes Orphanet:2309 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6443 infores:orphanet PMID:20301457 Assessed uuid:97735aa7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3854 biolink:causes Orphanet:2309 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6444 infores:orphanet PMID:20301457 Assessed uuid:97735aa8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1308 biolink:causes Orphanet:251393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2194 infores:orphanet Assessed uuid:97735aa9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3691 biolink:causes Orphanet:251393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6158 infores:orphanet Assessed uuid:97735aaa-d8a7-11f1-ae73-e4fade41113c NCBIGene:57167 biolink:causes Orphanet:2307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15924 infores:orphanet PMID:17256792 Assessed uuid:97735aab-d8a7-11f1-ae73-e4fade41113c NCBIGene:23418 biolink:causes Orphanet:251295 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2343 infores:orphanet PMID:15623792 Assessed uuid:97735aac-d8a7-11f1-ae73-e4fade41113c NCBIGene:4488 biolink:causes Orphanet:251290 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7392 infores:orphanet Assessed loss_of_function_variant_form uuid:97735aad-d8a7-11f1-ae73-e4fade41113c NCBIGene:6843 biolink:causes Orphanet:251282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12642 infores:orphanet PMID:22958904 Assessed uuid:97735aae-d8a7-11f1-ae73-e4fade41113c NCBIGene:83552 biolink:causes Orphanet:251279 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18121 infores:orphanet PMID:17167404 Assessed loss_of_function_variant_form uuid:97735aaf-d8a7-11f1-ae73-e4fade41113c NCBIGene:3762 biolink:causes Orphanet:251274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6266 infores:orphanet PMID:24817817 Assessed gain_of_function_variant_form uuid:97735ab0-d8a7-11f1-ae73-e4fade41113c NCBIGene:176 biolink:causes Orphanet:251262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:319 infores:orphanet PMID:20137779 Assessed uuid:97735ab1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4361 biolink:causes Orphanet:251347 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7230 infores:orphanet PMID:10612394 Assessed uuid:97735ab2-d8a7-11f1-ae73-e4fade41113c NCBIGene:100996717 biolink:causes Orphanet:2289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:53924 infores:orphanet PMID:31178126 Assessed uuid:97735ab3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4645 biolink:causes Orphanet:2290 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7603 infores:orphanet PMID:20186687 Assessed loss_of_function_variant_form uuid:97735ab4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6809 biolink:causes Orphanet:2290 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11438 infores:orphanet PMID:24726755 Assessed loss_of_function_variant_form uuid:97735ab5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4576 biolink:gene_associated_with_condition Orphanet:254857 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7499 infores:orphanet PMID:1645537 Not yet assessed uuid:97735ab6-d8a7-11f1-ae73-e4fade41113c NCBIGene:55687 biolink:causes Orphanet:254864 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25481 infores:orphanet PMID:21931168 Assessed uuid:97735ab7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4556 biolink:causes Orphanet:254864 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7479 infores:orphanet PMID:19720722 Assessed uuid:97735ab8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8216 biolink:causes Orphanet:2678 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6742 infores:orphanet PMID:39140257 Assessed uuid:97735ab9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2239 biolink:causes Orphanet:2662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4452 infores:orphanet PMID:30982611 Assessed uuid:97735aba-d8a7-11f1-ae73-e4fade41113c NCBIGene:5913 biolink:causes Orphanet:719880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9863 infores:orphanet PMID:20301347 Assessed uuid:97735abb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1144 biolink:causes Orphanet:719880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1965 infores:orphanet PMID:16916845 Assessed uuid:97735abc-d8a7-11f1-ae73-e4fade41113c NCBIGene:221264 biolink:causes Orphanet:719880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33814 infores:orphanet PMID:27966543 Assessed uuid:97735abd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5076 biolink:causes Orphanet:1475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8616 infores:orphanet PMID:22213154|PMID:20301624 Assessed uuid:97735abe-d8a7-11f1-ae73-e4fade41113c NCBIGene:26092 biolink:causes Orphanet:719914 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29456 infores:orphanet PMID:33215087 Assessed uuid:97735abf-d8a7-11f1-ae73-e4fade41113c NCBIGene:3913 biolink:causes Orphanet:2670 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6487 infores:orphanet PMID:24944146 Assessed loss_of_function_variant_form uuid:97735ac0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1674 biolink:causes Orphanet:719921 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2770 infores:orphanet PMID:37721175 Assessed uuid:97735ac1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5075 biolink:causes Orphanet:720357 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8615 infores:orphanet PMID:23851939 Assessed uuid:97735ac2-d8a7-11f1-ae73-e4fade41113c NCBIGene:91574 biolink:causes Orphanet:254930 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26784 infores:orphanet PMID:20598281 Assessed uuid:97735ac3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2138 biolink:causes Orphanet:720341 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3519 infores:orphanet PMID:16441263 Assessed uuid:97735ac4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7284 biolink:causes Orphanet:254925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12420 infores:orphanet PMID:17160893 Assessed uuid:97735ac5-d8a7-11f1-ae73-e4fade41113c NCBIGene:26276 biolink:causes Orphanet:2697 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12712 infores:orphanet PMID:25239142 Assessed uuid:97735ac6-d8a7-11f1-ae73-e4fade41113c NCBIGene:63894 biolink:causes Orphanet:2697 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20347 infores:orphanet PMID:25239142 Assessed uuid:97735ac7-d8a7-11f1-ae73-e4fade41113c NCBIGene:51021 biolink:causes Orphanet:254920 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14048 infores:orphanet PMID:15505824 Assessed uuid:97735ac8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3937 biolink:causes Orphanet:720371 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6529 infores:orphanet PMID:33231617 Assessed uuid:97735ac9-d8a7-11f1-ae73-e4fade41113c NCBIGene:539 biolink:causes Orphanet:254913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:850 infores:orphanet PMID:34954817|PMID:35621276 Assessed uuid:97735aca-d8a7-11f1-ae73-e4fade41113c NCBIGene:91647 biolink:causes Orphanet:254913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18802 infores:orphanet PMID:14757859 Assessed uuid:97735acb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4508 biolink:causes Orphanet:254913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7414 infores:orphanet PMID:21686774|PMID:28412374 Assessed uuid:97735acc-d8a7-11f1-ae73-e4fade41113c NCBIGene:4509 biolink:causes Orphanet:254913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7415 infores:orphanet PMID:21686774 Assessed uuid:97735acd-d8a7-11f1-ae73-e4fade41113c NCBIGene:514 biolink:causes Orphanet:254913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:838 infores:orphanet PMID:20566710 Assessed uuid:97735ace-d8a7-11f1-ae73-e4fade41113c NCBIGene:498 biolink:causes Orphanet:254913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:823 infores:orphanet PMID:23599390 Assessed uuid:97735acf-d8a7-11f1-ae73-e4fade41113c NCBIGene:513 biolink:causes Orphanet:254913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:837 infores:orphanet PMID:29478781 Assessed uuid:97735ad0-d8a7-11f1-ae73-e4fade41113c NCBIGene:84833 biolink:causes Orphanet:254913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30889 infores:orphanet PMID:29917077 Assessed uuid:97735ad1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8050 biolink:causes Orphanet:255182 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21350 infores:orphanet PMID:9399911 Assessed uuid:97735ad2-d8a7-11f1-ae73-e4fade41113c NCBIGene:8036 biolink:causes Orphanet:2701 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15454 infores:orphanet PMID:19684605 Assessed uuid:97735ad3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5500 biolink:causes Orphanet:2701 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9282 infores:orphanet PMID:27264673|PMID:27868344|PMID:28211982 Assessed uuid:97735ad4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5162 biolink:causes Orphanet:255138 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8808 infores:orphanet PMID:15138885 Assessed uuid:97735ad5-d8a7-11f1-ae73-e4fade41113c NCBIGene:51218 biolink:causes Orphanet:255132 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20134 infores:orphanet PMID:17485548 Assessed uuid:97735ad6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2706 biolink:causes Orphanet:2698 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4284 infores:orphanet PMID:22421650|PMID:15952212|PMID:15482471 Assessed uuid:97735ad7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5428 biolink:causes Orphanet:254886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9179 infores:orphanet PMID:11431686|PMID:20301791 Assessed uuid:97735ad8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7084 biolink:causes Orphanet:254886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11831 infores:orphanet PMID:21937588 Assessed uuid:97735ad9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7156 biolink:causes Orphanet:254886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11992 infores:orphanet PMID:29290614|PMID:36544354 Assessed uuid:97735ada-d8a7-11f1-ae73-e4fade41113c NCBIGene:6240 biolink:causes Orphanet:254886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10451 infores:orphanet PMID:35617047 Assessed uuid:97735adb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5428 biolink:causes Orphanet:254881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9179 infores:orphanet PMID:15824347 Assessed uuid:97735adc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1352 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2260 infores:orphanet PMID:10767350|PMID:12928484|PMID:15455402 Assessed uuid:97735add-d8a7-11f1-ae73-e4fade41113c NCBIGene:4512 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7419 infores:orphanet PMID:12140182|PMID:16284789|PMID:11579424 Assessed uuid:97735ade-d8a7-11f1-ae73-e4fade41113c NCBIGene:4513 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7421 infores:orphanet PMID:10205264|PMID:10486321|PMID:11471180|PMID:11558799|PMID:11579424 Assessed loss_of_function_variant_form uuid:97735adf-d8a7-11f1-ae73-e4fade41113c NCBIGene:4514 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7422 infores:orphanet PMID:8630495|PMID:9634511|PMID:11063732|PMID:12414820|PMID:11579424 Assessed uuid:97735ae0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1340 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2280 infores:orphanet PMID:18499082|PMID:24781756 Assessed uuid:97735ae1-d8a7-11f1-ae73-e4fade41113c NCBIGene:84987 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28216 infores:orphanet PMID:22243966 Assessed uuid:97735ae2-d8a7-11f1-ae73-e4fade41113c NCBIGene:116228 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26970 infores:orphanet PMID:23125284 Assessed uuid:97735ae3-d8a7-11f1-ae73-e4fade41113c NCBIGene:28958 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24990 infores:orphanet PMID:25604084 Assessed uuid:97735ae4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1351 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2294 infores:orphanet PMID:26685157 Assessed loss_of_function_variant_form uuid:97735ae5-d8a7-11f1-ae73-e4fade41113c NCBIGene:9377 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2267 infores:orphanet PMID:28247525 Assessed loss_of_function_variant_form uuid:97735ae6-d8a7-11f1-ae73-e4fade41113c NCBIGene:100303755 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:40045 infores:orphanet PMID:28386624 Assessed uuid:97735ae7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1327 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2265 infores:orphanet PMID:31290619 Assessed uuid:97735ae8-d8a7-11f1-ae73-e4fade41113c NCBIGene:51241 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20213 infores:orphanet PMID:33169484 Assessed uuid:97735ae9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1339 biolink:causes Orphanet:254905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2279 infores:orphanet PMID:31155743 Assessed uuid:97735aea-d8a7-11f1-ae73-e4fade41113c NCBIGene:617 biolink:causes Orphanet:254902 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1020 infores:orphanet PMID:11528392 Assessed uuid:97735aeb-d8a7-11f1-ae73-e4fade41113c NCBIGene:23590 biolink:causes Orphanet:254898 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17759 infores:orphanet PMID:17332895 Assessed uuid:97735aec-d8a7-11f1-ae73-e4fade41113c NCBIGene:8558 biolink:causes Orphanet:720326 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1770 infores:orphanet PMID:28886341 Assessed uuid:97735aed-d8a7-11f1-ae73-e4fade41113c NCBIGene:5428 biolink:causes Orphanet:254892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9179 infores:orphanet PMID:11431686|PMID:20301791 Assessed uuid:97735aee-d8a7-11f1-ae73-e4fade41113c NCBIGene:11232 biolink:causes Orphanet:254892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9180 infores:orphanet PMID:21555342 Assessed uuid:97735aef-d8a7-11f1-ae73-e4fade41113c NCBIGene:291 biolink:causes Orphanet:254892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10990 infores:orphanet PMID:21519523|PMID:10926541 Assessed uuid:97735af0-d8a7-11f1-ae73-e4fade41113c NCBIGene:56652 biolink:causes Orphanet:254892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1160 infores:orphanet PMID:21519523|PMID:11431692 Assessed uuid:97735af1-d8a7-11f1-ae73-e4fade41113c NCBIGene:50484 biolink:causes Orphanet:254892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17296 infores:orphanet PMID:21646632|PMID:19664747 Assessed uuid:97735af2-d8a7-11f1-ae73-e4fade41113c NCBIGene:11011 biolink:causes Orphanet:720321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11842 infores:orphanet PMID:29861108|PMID:39538191 Assessed uuid:97735af3-d8a7-11f1-ae73-e4fade41113c NCBIGene:54880 biolink:causes Orphanet:2712 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20893 infores:orphanet PMID:22301464|PMID:15004558|PMID:15770227 Assessed uuid:97735af4-d8a7-11f1-ae73-e4fade41113c NCBIGene:158326 biolink:causes Orphanet:2717 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23399 infores:orphanet PMID:20301721 Assessed loss_of_function_variant_form uuid:97735af5-d8a7-11f1-ae73-e4fade41113c NCBIGene:60495 biolink:causes Orphanet:2704 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18374 infores:orphanet PMID:23967498 Assessed uuid:97735af6-d8a7-11f1-ae73-e4fade41113c NCBIGene:9860 biolink:causes Orphanet:2704 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20889 infores:orphanet PMID:23313374|PMID:23967498 Assessed uuid:97735af7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4508 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7414 infores:orphanet PMID:19433277|PMID:20301352 Assessed uuid:97735af8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4535 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7455 infores:orphanet PMID:20301352|PMID:24830958 Assessed uuid:97735af9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4536 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7456 infores:orphanet PMID:16738010|PMID:16996290|PMID:20301352 Assessed uuid:97735afa-d8a7-11f1-ae73-e4fade41113c NCBIGene:4537 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7458 infores:orphanet PMID:16023078|PMID:20202874|PMID:20301352|PMID:22364517 Assessed uuid:97735afb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4538 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7459 infores:orphanet PMID:20301352|PMID:20502985 Assessed uuid:97735afc-d8a7-11f1-ae73-e4fade41113c NCBIGene:4540 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7461 infores:orphanet PMID:11938446|PMID:14520659|PMID:20301352 Assessed uuid:97735afd-d8a7-11f1-ae73-e4fade41113c NCBIGene:4541 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7462 infores:orphanet PMID:14595656|PMID:20301352|PMID:23813926 Assessed uuid:97735afe-d8a7-11f1-ae73-e4fade41113c NCBIGene:4567 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7490 infores:orphanet PMID:9323566|PMID:10356136|PMID:20301352 Assessed uuid:97735aff-d8a7-11f1-ae73-e4fade41113c NCBIGene:4566 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7489 infores:orphanet PMID:20301352|PMID:24374964 Assessed uuid:97735b00-d8a7-11f1-ae73-e4fade41113c NCBIGene:4578 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7501 infores:orphanet PMID:9266739|PMID:19349200|PMID:20301352 Assessed uuid:97735b01-d8a7-11f1-ae73-e4fade41113c NCBIGene:4577 biolink:causes Orphanet:255210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7500 infores:orphanet PMID:11799391|PMID:20301352|PMID:24691472 Assessed uuid:97735b02-d8a7-11f1-ae73-e4fade41113c NCBIGene:4358 biolink:causes Orphanet:255229 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7224 infores:orphanet PMID:22593919 Assessed uuid:97735b03-d8a7-11f1-ae73-e4fade41113c NCBIGene:89910 biolink:causes Orphanet:2707 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13478 infores:orphanet PMID:23687348 Assessed loss_of_function_variant_form uuid:97735b04-d8a7-11f1-ae73-e4fade41113c NCBIGene:50484 biolink:causes Orphanet:255235 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17296 infores:orphanet PMID:24741716 Assessed uuid:97735b05-d8a7-11f1-ae73-e4fade41113c NCBIGene:2697 biolink:causes Orphanet:2710 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4274 infores:orphanet PMID:16378922|PMID:24508941 Assessed uuid:97735b06-d8a7-11f1-ae73-e4fade41113c NCBIGene:23451 biolink:gene_associated_with_condition Orphanet:723203 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:10768 infores:orphanet PMID:23861464|PMID:23714557 Assessed uuid:97735b07-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:723203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:950 infores:orphanet PMID:21051595 Assessed uuid:97735b08-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:723203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:950 infores:orphanet PMID:21941004 Assessed uuid:97735b09-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:723203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4379 infores:orphanet PMID:21083380|PMID:23714557 Assessed uuid:97735b0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2776 biolink:causes Orphanet:723203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4390 infores:orphanet PMID:21083380|PMID:23714557 Assessed uuid:97735b0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57105 biolink:causes Orphanet:723203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:18274 infores:orphanet PMID:27089179 Assessed uuid:97735b0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:723195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:950 infores:orphanet PMID:21051595 Assessed uuid:97735b0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:723195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:950 infores:orphanet PMID:21941004 Assessed uuid:97735b0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:723195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4379 infores:orphanet PMID:21083380|PMID:23714557 Assessed uuid:97735b0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2776 biolink:causes Orphanet:723195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4390 infores:orphanet PMID:21083380|PMID:23714557 Assessed uuid:97735b10-d8a7-11f1-ae73-e4fade41113c NCBIGene:57105 biolink:causes Orphanet:723195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:18274 infores:orphanet PMID:27089179 Assessed uuid:97735b11-d8a7-11f1-ae73-e4fade41113c NCBIGene:23451 biolink:gene_associated_with_condition Orphanet:723195 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:10768 infores:orphanet PMID:23861464|PMID:23714557 Assessed uuid:97735b12-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:723139 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10593 infores:orphanet PMID:22766342|PMID:37600057 Assessed uuid:97735b13-d8a7-11f1-ae73-e4fade41113c NCBIGene:80326 biolink:causes Orphanet:2721 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13829 infores:orphanet PMID:17847007|PMID:24458874 Assessed uuid:97735b14-d8a7-11f1-ae73-e4fade41113c NCBIGene:4772 biolink:causes Orphanet:723161 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7775 infores:orphanet PMID:37249233 Assessed uuid:97735b15-d8a7-11f1-ae73-e4fade41113c NCBIGene:54977 biolink:causes Orphanet:260305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26054 infores:orphanet PMID:19412178 Assessed uuid:97735b16-d8a7-11f1-ae73-e4fade41113c NCBIGene:3313 biolink:causes Orphanet:260305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5244 infores:orphanet PMID:26491070 Assessed loss_of_function_variant_form uuid:97735b17-d8a7-11f1-ae73-e4fade41113c NCBIGene:54617 biolink:causes Orphanet:723146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26956 infores:orphanet PMID:25312759 Assessed uuid:97735b18-d8a7-11f1-ae73-e4fade41113c NCBIGene:26100 biolink:causes Orphanet:724143 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32225 infores:orphanet PMID:30968111 Assessed uuid:97735b19-d8a7-11f1-ae73-e4fade41113c NCBIGene:56270 biolink:causes Orphanet:724148 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25072 infores:orphanet PMID:28503735 Assessed uuid:97735b1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8481 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2567 infores:orphanet PMID:20301500 Assessed uuid:97735b1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:10210 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21653 infores:orphanet PMID:34132027 Assessed uuid:97735b1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:51259 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25018 infores:orphanet PMID:20615230|PMID:20301500 Assessed uuid:97735b1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:374654 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30497 infores:orphanet PMID:20301500|PMID:21633164 Assessed uuid:97735b1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:65250 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25801 infores:orphanet PMID:24178751 Assessed uuid:97735b1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:26123 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24519 infores:orphanet PMID:22883145|PMID:20301500 Assessed uuid:97735b20-d8a7-11f1-ae73-e4fade41113c NCBIGene:79583 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:37234 infores:orphanet PMID:26982032 Assessed uuid:97735b21-d8a7-11f1-ae73-e4fade41113c NCBIGene:5147 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8788 infores:orphanet PMID:24166846 Assessed loss_of_function_variant_form uuid:97735b22-d8a7-11f1-ae73-e4fade41113c NCBIGene:9851 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29110 infores:orphanet PMID:26643951 Assessed uuid:97735b23-d8a7-11f1-ae73-e4fade41113c NCBIGene:317662 biolink:causes Orphanet:2754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29162 infores:orphanet PMID:30905400 Assessed uuid:97735b24-d8a7-11f1-ae73-e4fade41113c NCBIGene:26123 biolink:causes Orphanet:2753 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24519 infores:orphanet PMID:22883145 Assessed uuid:97735b25-d8a7-11f1-ae73-e4fade41113c NCBIGene:4750 biolink:causes Orphanet:2751 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7744 infores:orphanet PMID:27530628 Assessed uuid:97735b26-d8a7-11f1-ae73-e4fade41113c NCBIGene:5654 biolink:gene_associated_with_condition Orphanet:252128 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9476 infores:orphanet PMID:27723760 Assessed uuid:97735b27-d8a7-11f1-ae73-e4fade41113c NCBIGene:9644 biolink:gene_associated_with_condition Orphanet:252128 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:23664 infores:orphanet PMID:27723760 Assessed uuid:97735b28-d8a7-11f1-ae73-e4fade41113c NCBIGene:8481 biolink:causes Orphanet:2750 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2567 infores:orphanet PMID:20301367 Assessed loss_of_function_variant_form uuid:97735b29-d8a7-11f1-ae73-e4fade41113c NCBIGene:8352 biolink:causes Orphanet:723358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4768 infores:orphanet PMID:41492091 Assessed uuid:97735b2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:126961 biolink:causes Orphanet:723358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:20503 infores:orphanet PMID:41492091 Assessed uuid:97735b2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8358 biolink:causes Orphanet:723358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4776 infores:orphanet PMID:35606633 Assessed uuid:97735b2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3020 biolink:causes Orphanet:723358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4764 infores:orphanet PMID:38102230|PMID:36534421|PMID:39376094 Assessed uuid:97735b2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8929 biolink:causes Orphanet:661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9143 infores:orphanet PMID:20301600 Assessed uuid:97735b2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:627 biolink:gene_associated_with_condition Orphanet:661 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1033 infores:orphanet PMID:11840487 Not yet assessed uuid:97735b2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1908 biolink:gene_associated_with_condition Orphanet:661 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3178 infores:orphanet PMID:8696331|PMID:20301600 Not yet assessed uuid:97735b30-d8a7-11f1-ae73-e4fade41113c NCBIGene:2668 biolink:gene_associated_with_condition Orphanet:661 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4232 infores:orphanet Not yet assessed uuid:97735b31-d8a7-11f1-ae73-e4fade41113c NCBIGene:283446 biolink:causes Orphanet:661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13879 infores:orphanet PMID:28779001 Assessed uuid:97735b32-d8a7-11f1-ae73-e4fade41113c NCBIGene:10660 biolink:causes Orphanet:661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16960 infores:orphanet PMID:30487221 Assessed uuid:97735b33-d8a7-11f1-ae73-e4fade41113c NCBIGene:5339 biolink:causes Orphanet:254361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9069 infores:orphanet PMID:20301582 Assessed uuid:97735b34-d8a7-11f1-ae73-e4fade41113c NCBIGene:9935 biolink:causes Orphanet:2774 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6408 infores:orphanet PMID:22387013 Assessed uuid:97735b35-d8a7-11f1-ae73-e4fade41113c NCBIGene:54209 biolink:causes Orphanet:2770 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17761 infores:orphanet PMID:20301376 Assessed loss_of_function_variant_form uuid:97735b36-d8a7-11f1-ae73-e4fade41113c NCBIGene:7305 biolink:causes Orphanet:2770 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12449 infores:orphanet PMID:20301376 Assessed loss_of_function_variant_form uuid:97735b37-d8a7-11f1-ae73-e4fade41113c NCBIGene:55149 biolink:causes Orphanet:254343 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25532 infores:orphanet PMID:20970105 Assessed uuid:97735b38-d8a7-11f1-ae73-e4fade41113c NCBIGene:1854 biolink:causes Orphanet:725898 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3078 infores:orphanet PMID:28073829|PMID:35611808 Assessed uuid:97735b39-d8a7-11f1-ae73-e4fade41113c NCBIGene:3735 biolink:causes Orphanet:254334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6215 infores:orphanet PMID:20920668 Assessed uuid:97735b3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:2762 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4392 infores:orphanet PMID:14723729|PMID:20427508|PMID:17321228 Assessed loss_of_function_variant_form uuid:97735b3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5654 biolink:gene_associated_with_condition Orphanet:252212 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9476 infores:orphanet PMID:27723760 Assessed uuid:97735b3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9644 biolink:gene_associated_with_condition Orphanet:252212 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:23664 infores:orphanet PMID:27723760 Assessed uuid:97735b3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:63901 biolink:causes Orphanet:2763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24725 infores:orphanet PMID:23684011 Assessed uuid:97735b3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:gene_associated_with_condition Orphanet:252206 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1787 infores:orphanet PMID:11136714 Not yet assessed uuid:97735b3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5395 biolink:causes Orphanet:252202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9122 infores:orphanet PMID:20442441|PMID:23483711 Assessed uuid:97735b40-d8a7-11f1-ae73-e4fade41113c NCBIGene:4292 biolink:causes Orphanet:252202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7127 infores:orphanet PMID:20442441 Assessed uuid:97735b41-d8a7-11f1-ae73-e4fade41113c NCBIGene:4436 biolink:causes Orphanet:252202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7325 infores:orphanet PMID:20442441|PMID:23483711 Assessed uuid:97735b42-d8a7-11f1-ae73-e4fade41113c NCBIGene:2956 biolink:causes Orphanet:252202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7329 infores:orphanet PMID:20442441|PMID:23483711 Assessed uuid:97735b43-d8a7-11f1-ae73-e4fade41113c NCBIGene:5515 biolink:causes Orphanet:726659 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9299 infores:orphanet PMID:36531959|PMID:39978342 Assessed uuid:97735b44-d8a7-11f1-ae73-e4fade41113c NCBIGene:5527 biolink:causes Orphanet:726667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9311 infores:orphanet PMID:25972378|PMID:39978342 Assessed uuid:97735b45-d8a7-11f1-ae73-e4fade41113c NCBIGene:3662 biolink:causes Orphanet:726479 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6119 infores:orphanet PMID:29537367|PMID:36917008 Assessed uuid:97735b46-d8a7-11f1-ae73-e4fade41113c NCBIGene:55384 biolink:gene_associated_with_condition Orphanet:254525 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14575 infores:orphanet PMID:18176563|PMID:24801763 Assessed uuid:97735b47-d8a7-11f1-ae73-e4fade41113c NCBIGene:388015 biolink:gene_associated_with_condition Orphanet:254525 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14665 infores:orphanet PMID:18176563 Assessed uuid:97735b48-d8a7-11f1-ae73-e4fade41113c NCBIGene:8788 biolink:gene_associated_with_condition Orphanet:254525 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2907 infores:orphanet PMID:18176563 Assessed uuid:97735b49-d8a7-11f1-ae73-e4fade41113c NCBIGene:3248 biolink:causes Orphanet:2796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5154 infores:orphanet PMID:18500342 Assessed uuid:97735b4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6578 biolink:causes Orphanet:2796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10955 infores:orphanet PMID:22197487|PMID:22331663 Assessed loss_of_function_variant_form uuid:97735b4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55384 biolink:gene_associated_with_condition Orphanet:254528 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14575 infores:orphanet PMID:18176563|PMID:24801763 Assessed uuid:97735b4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:388015 biolink:gene_associated_with_condition Orphanet:254528 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14665 infores:orphanet PMID:18176563 Assessed uuid:97735b4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8788 biolink:gene_associated_with_condition Orphanet:254528 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2907 infores:orphanet PMID:18176563 Assessed uuid:97735b4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3662 biolink:causes Orphanet:726442 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6119 infores:orphanet PMID:36662884 Assessed uuid:97735b4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4854 biolink:causes Orphanet:2789 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:7883 infores:orphanet PMID:25394726 Assessed gain_of_function_variant_form uuid:97735b50-d8a7-11f1-ae73-e4fade41113c NCBIGene:3662 biolink:causes Orphanet:726452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6119 infores:orphanet PMID:36917008 Assessed uuid:97735b51-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:causes Orphanet:2788 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6697 infores:orphanet PMID:21407258|PMID:16679074|PMID:16252235 Assessed loss_of_function_variant_form uuid:97735b52-d8a7-11f1-ae73-e4fade41113c NCBIGene:7066 biolink:causes Orphanet:726050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11795 infores:orphanet PMID:29191945 Assessed uuid:97735b53-d8a7-11f1-ae73-e4fade41113c NCBIGene:2248 biolink:gene_associated_with_condition Orphanet:2791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3681 infores:orphanet PMID:17656375 Assessed uuid:97735b54-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:causes Orphanet:2790 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6697 infores:orphanet PMID:12579474 Assessed uuid:97735b55-d8a7-11f1-ae73-e4fade41113c NCBIGene:4352 biolink:causes Orphanet:726047 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7217 infores:orphanet PMID:19302922|PMID:24438083 Assessed loss_of_function_variant_form uuid:97735b56-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:causes Orphanet:2783 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6697 infores:orphanet PMID:21600326|PMID:12579474 Assessed gain_of_function_variant_form uuid:97735b57-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:726036 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:30146126 Assessed uuid:97735b58-d8a7-11f1-ae73-e4fade41113c NCBIGene:546 biolink:causes Orphanet:726004 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:886 infores:orphanet PMID:35047821 Assessed uuid:97735b59-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:causes Orphanet:726004 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5383 infores:orphanet PMID:33177376 Assessed uuid:97735b5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:726004 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11998 infores:orphanet PMID:37667984|PMID:33177376|PMID:31996992 Assessed uuid:97735b5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3417 biolink:causes Orphanet:726004 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5382 infores:orphanet PMID:37667984|PMID:33177376|PMID:31996992 Assessed uuid:97735b5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:2780 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2514 infores:orphanet PMID:38173341 Assessed gain_of_function_variant_form uuid:97735b5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:139285 biolink:causes Orphanet:2780 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26837 infores:orphanet PMID:19079258 Assessed uuid:97735b5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1186 biolink:causes Orphanet:667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2025 infores:orphanet PMID:22419446|PMID:20424301|PMID:20301306|PMID:23877423 Assessed uuid:97735b5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10312 biolink:causes Orphanet:667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11647 infores:orphanet PMID:20424301|PMID:15300850|PMID:21042819|PMID:23877423 Assessed loss_of_function_variant_form uuid:97735b60-d8a7-11f1-ae73-e4fade41113c NCBIGene:8600 biolink:causes Orphanet:667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11926 infores:orphanet PMID:17632511|PMID:23877423 Assessed uuid:97735b61-d8a7-11f1-ae73-e4fade41113c NCBIGene:29887 biolink:causes Orphanet:667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14974 infores:orphanet PMID:22499339|PMID:23877423 Assessed uuid:97735b62-d8a7-11f1-ae73-e4fade41113c NCBIGene:28962 biolink:causes Orphanet:667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21652 infores:orphanet PMID:15177004 Assessed uuid:97735b63-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:726807 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9588 infores:orphanet PMID:33105631 Assessed uuid:97735b64-d8a7-11f1-ae73-e4fade41113c NCBIGene:57616 biolink:causes Orphanet:726799 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30700 infores:orphanet PMID:36553458|PMID:39420202 Assessed uuid:97735b65-d8a7-11f1-ae73-e4fade41113c NCBIGene:6262 biolink:causes Orphanet:726788 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10484 infores:orphanet PMID:33536282|PMID:38900490 Assessed loss_of_function_variant_form uuid:97735b66-d8a7-11f1-ae73-e4fade41113c NCBIGene:10060 biolink:causes Orphanet:726782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:60 infores:orphanet PMID:31575858|PMID:38217872 Assessed uuid:97735b67-d8a7-11f1-ae73-e4fade41113c NCBIGene:4149 biolink:causes Orphanet:726703 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6913 infores:orphanet PMID:38141607 Assessed uuid:97735b68-d8a7-11f1-ae73-e4fade41113c NCBIGene:256297 biolink:causes Orphanet:2805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23734 infores:orphanet PMID:24212882 Assessed uuid:97735b69-d8a7-11f1-ae73-e4fade41113c NCBIGene:3651 biolink:causes Orphanet:2805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6107 infores:orphanet PMID:8988180 Assessed uuid:97735b6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2077 biolink:causes Orphanet:726700 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3444 infores:orphanet PMID:8418638|PMID:27738187 Assessed uuid:97735b6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:199713 biolink:causes Orphanet:254693 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22947 infores:orphanet PMID:19246479|PMID:24533231 Assessed uuid:97735b6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:154288 biolink:causes Orphanet:254693 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33699 infores:orphanet PMID:24533231 Assessed uuid:97735b6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57520 biolink:causes Orphanet:726695 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29853 infores:orphanet PMID:34321324 Assessed uuid:97735b6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:2807 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:12085209 Assessed uuid:97735b6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1075 biolink:causes Orphanet:678 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2528 infores:orphanet PMID:16460249 Assessed loss_of_function_variant_form uuid:97735b70-d8a7-11f1-ae73-e4fade41113c NCBIGene:2512 biolink:causes Orphanet:254704 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3999 infores:orphanet PMID:19176363 Assessed uuid:97735b71-d8a7-11f1-ae73-e4fade41113c NCBIGene:10524 biolink:causes Orphanet:726684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5275 infores:orphanet PMID:32822602 Assessed uuid:97735b72-d8a7-11f1-ae73-e4fade41113c NCBIGene:55384 biolink:gene_associated_with_condition Orphanet:254534 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14575 infores:orphanet PMID:18176563|PMID:24801763 Assessed uuid:97735b73-d8a7-11f1-ae73-e4fade41113c NCBIGene:388015 biolink:gene_associated_with_condition Orphanet:254534 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14665 infores:orphanet PMID:18176563 Assessed uuid:97735b74-d8a7-11f1-ae73-e4fade41113c NCBIGene:8788 biolink:gene_associated_with_condition Orphanet:254534 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2907 infores:orphanet PMID:18176563 Assessed uuid:97735b75-d8a7-11f1-ae73-e4fade41113c NCBIGene:22 biolink:causes Orphanet:2802 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:48 infores:orphanet PMID:20301496 Assessed loss_of_function_variant_form uuid:97735b76-d8a7-11f1-ae73-e4fade41113c NCBIGene:55384 biolink:gene_associated_with_condition Orphanet:254531 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14575 infores:orphanet PMID:18176563|PMID:24801763 Assessed uuid:97735b77-d8a7-11f1-ae73-e4fade41113c NCBIGene:388015 biolink:gene_associated_with_condition Orphanet:254531 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14665 infores:orphanet PMID:18176563 Assessed uuid:97735b78-d8a7-11f1-ae73-e4fade41113c NCBIGene:8788 biolink:gene_associated_with_condition Orphanet:254531 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2907 infores:orphanet PMID:18176563 Assessed uuid:97735b79-d8a7-11f1-ae73-e4fade41113c NCBIGene:9442 biolink:causes Orphanet:726677 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2377 infores:orphanet PMID:33443317 Assessed uuid:97735b7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:199713 biolink:causes Orphanet:254688 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22947 infores:orphanet PMID:19246479|PMID:24533231 Assessed uuid:97735b7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:154288 biolink:causes Orphanet:254688 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33699 infores:orphanet PMID:21885028|PMID:24533231 Assessed uuid:97735b7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:150365 biolink:causes Orphanet:254688 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28613 infores:orphanet PMID:30388401 Assessed uuid:97735b7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:79703 biolink:causes Orphanet:254688 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26197 infores:orphanet PMID:30388401 Assessed uuid:97735b7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7289 biolink:causes Orphanet:726824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12425 infores:orphanet PMID:35397207|PMID:40579123 Assessed uuid:97735b7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8823 biolink:causes Orphanet:2498 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3672 infores:orphanet PMID:23709756 Assessed uuid:97735b80-d8a7-11f1-ae73-e4fade41113c NCBIGene:5781 biolink:causes Orphanet:2499 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9644 infores:orphanet PMID:21533187 Assessed loss_of_function_variant_form uuid:97735b81-d8a7-11f1-ae73-e4fade41113c NCBIGene:3757 biolink:causes Orphanet:727149 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6251 infores:orphanet PMID:20301308|PMID:24093767 Assessed loss_of_function_variant_form uuid:97735b82-d8a7-11f1-ae73-e4fade41113c NCBIGene:3784 biolink:causes Orphanet:727141 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6294 infores:orphanet PMID:20301308|PMID:24093767 Assessed loss_of_function_variant_form uuid:97735b83-d8a7-11f1-ae73-e4fade41113c NCBIGene:10345 biolink:causes Orphanet:727163 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12261 infores:orphanet PMID:25922419|PMID:27807201|PMID:27041150 Assessed uuid:97735b84-d8a7-11f1-ae73-e4fade41113c NCBIGene:775 biolink:causes Orphanet:727156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1390 infores:orphanet PMID:23677916 Assessed uuid:97735b85-d8a7-11f1-ae73-e4fade41113c NCBIGene:3753 biolink:causes Orphanet:727185 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6240 infores:orphanet PMID:20301308|PMID:24093767 Assessed loss_of_function_variant_form uuid:97735b86-d8a7-11f1-ae73-e4fade41113c NCBIGene:1281 biolink:causes Orphanet:2500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2201 infores:orphanet PMID:10819545 Assessed uuid:97735b87-d8a7-11f1-ae73-e4fade41113c NCBIGene:9992 biolink:causes Orphanet:727178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6242 infores:orphanet PMID:20301308|PMID:24093767 Assessed loss_of_function_variant_form uuid:97735b88-d8a7-11f1-ae73-e4fade41113c NCBIGene:4322 biolink:causes Orphanet:2501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7159 infores:orphanet PMID:24648384 Assessed loss_of_function_variant_form uuid:97735b89-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:727203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10593 infores:orphanet PMID:20301308|PMID:24093767 Assessed gain_of_function_variant_form uuid:97735b8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:801 biolink:causes Orphanet:727192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1442 infores:orphanet PMID:23388215|PMID:24076290 Assessed uuid:97735b8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:805 biolink:causes Orphanet:727192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1445 infores:orphanet PMID:23388215|PMID:24917665 Assessed uuid:97735b8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:808 biolink:causes Orphanet:727192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1449 infores:orphanet PMID:31170290 Assessed uuid:97735b8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9391 biolink:causes Orphanet:727296 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14280 infores:orphanet PMID:38950322 Assessed uuid:97735b8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:860 biolink:causes Orphanet:2504 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10472 infores:orphanet PMID:23290074 Assessed gain_of_function_variant_form uuid:97735b8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10982 biolink:causes Orphanet:2505 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6891 infores:orphanet PMID:26637975 Assessed uuid:97735b90-d8a7-11f1-ae73-e4fade41113c NCBIGene:203068 biolink:causes Orphanet:2505 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20778 infores:orphanet PMID:26637975 Assessed uuid:97735b91-d8a7-11f1-ae73-e4fade41113c NCBIGene:22930 biolink:causes Orphanet:2510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17063 infores:orphanet PMID:23420520 Assessed loss_of_function_variant_form uuid:97735b92-d8a7-11f1-ae73-e4fade41113c NCBIGene:25782 biolink:causes Orphanet:2510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17168 infores:orphanet PMID:23420520 Assessed loss_of_function_variant_form uuid:97735b93-d8a7-11f1-ae73-e4fade41113c NCBIGene:22931 biolink:causes Orphanet:2510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14244 infores:orphanet PMID:23420520 Assessed loss_of_function_variant_form uuid:97735b94-d8a7-11f1-ae73-e4fade41113c NCBIGene:128637 biolink:causes Orphanet:2510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16133 infores:orphanet PMID:24239381 Assessed loss_of_function_variant_form uuid:97735b95-d8a7-11f1-ae73-e4fade41113c NCBIGene:10661 biolink:causes Orphanet:727394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6345 infores:orphanet PMID:24443441 Assessed uuid:97735b96-d8a7-11f1-ae73-e4fade41113c NCBIGene:170302 biolink:causes Orphanet:2508 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18060 infores:orphanet PMID:14722918 Assessed uuid:97735b97-d8a7-11f1-ae73-e4fade41113c NCBIGene:4001 biolink:causes Orphanet:2514 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6637 infores:orphanet PMID:32910914 Assessed uuid:97735b98-d8a7-11f1-ae73-e4fade41113c NCBIGene:1804 biolink:causes Orphanet:2514 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3010 infores:orphanet PMID:23832105 Assessed loss_of_function_variant_form uuid:97735b99-d8a7-11f1-ae73-e4fade41113c NCBIGene:4128 biolink:gene_associated_with_condition Orphanet:727719 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6833 infores:orphanet PMID:23414621 Assessed uuid:97735b9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4129 biolink:gene_associated_with_condition Orphanet:727719 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6834 infores:orphanet PMID:23414621 Assessed uuid:97735b9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:85378 biolink:causes Orphanet:2518 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18127 infores:orphanet PMID:22279524 Assessed uuid:97735b9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10733 biolink:causes Orphanet:2518 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11397 infores:orphanet PMID:27650967 Assessed uuid:97735b9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:27229 biolink:causes Orphanet:2518 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16691 infores:orphanet PMID:25817018 Assessed uuid:97735b9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8565 biolink:causes Orphanet:727861 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12840 infores:orphanet PMID:40608960|PMID:34536092 Assessed uuid:97735b9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:283989 biolink:causes Orphanet:2524 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27561 infores:orphanet PMID:20301773 Assessed uuid:97735ba0-d8a7-11f1-ae73-e4fade41113c NCBIGene:79042 biolink:causes Orphanet:2524 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15506 infores:orphanet PMID:18711368 Assessed uuid:97735ba1-d8a7-11f1-ae73-e4fade41113c NCBIGene:80746 biolink:causes Orphanet:2524 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28422 infores:orphanet PMID:23562994 Assessed uuid:97735ba2-d8a7-11f1-ae73-e4fade41113c NCBIGene:51091 biolink:causes Orphanet:2524 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30605 infores:orphanet PMID:20920667 Assessed uuid:97735ba3-d8a7-11f1-ae73-e4fade41113c NCBIGene:116461 biolink:causes Orphanet:2524 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16791 infores:orphanet PMID:27392077 Assessed loss_of_function_variant_form uuid:97735ba4-d8a7-11f1-ae73-e4fade41113c NCBIGene:255738 biolink:causes Orphanet:727932 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20001 infores:orphanet PMID:18566665 Assessed uuid:97735ba5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3832 biolink:causes Orphanet:2526 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6388 infores:orphanet PMID:22284827 Assessed uuid:97735ba6-d8a7-11f1-ae73-e4fade41113c NCBIGene:27329 biolink:causes Orphanet:727925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:491 infores:orphanet PMID:22062970|PMID:22659251 Assessed uuid:97735ba7-d8a7-11f1-ae73-e4fade41113c NCBIGene:338 biolink:causes Orphanet:727915 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:603 infores:orphanet PMID:33983694|PMID:40155282|PMID:21874758 Assessed uuid:97735ba8-d8a7-11f1-ae73-e4fade41113c NCBIGene:59336 biolink:causes Orphanet:728521 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13998 infores:orphanet PMID:35390279 Assessed loss_of_function_variant_form uuid:97735ba9-d8a7-11f1-ae73-e4fade41113c NCBIGene:9562 biolink:causes Orphanet:728514 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7102 infores:orphanet PMID:33168985 Assessed uuid:97735baa-d8a7-11f1-ae73-e4fade41113c NCBIGene:80739 biolink:causes Orphanet:728467 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13937 infores:orphanet PMID:29898956|PMID:38694137 Assessed uuid:97735bab-d8a7-11f1-ae73-e4fade41113c NCBIGene:3764 biolink:contributes_to Orphanet:728619 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6269 infores:orphanet PMID:22562657 Assessed uuid:97735bac-d8a7-11f1-ae73-e4fade41113c NCBIGene:10060 biolink:contributes_to Orphanet:728619 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:60 infores:orphanet PMID:24439875 Assessed uuid:97735bad-d8a7-11f1-ae73-e4fade41113c NCBIGene:6915 biolink:causes Orphanet:728656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11608 infores:orphanet PMID:31389738 Assessed uuid:97735bae-d8a7-11f1-ae73-e4fade41113c NCBIGene:474 biolink:causes Orphanet:728662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:797 infores:orphanet PMID:41592563 Assessed uuid:97735baf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5000 biolink:causes Orphanet:2554 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8490 infores:orphanet PMID:23516378|PMID:21358632 Assessed loss_of_function_variant_form uuid:97735bb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:23594 biolink:causes Orphanet:2554 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17151 infores:orphanet PMID:23516378|PMID:21358632 Assessed loss_of_function_variant_form uuid:97735bb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:81620 biolink:causes Orphanet:2554 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24576 infores:orphanet PMID:23516378|PMID:21358632 Assessed loss_of_function_variant_form uuid:97735bb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:990 biolink:causes Orphanet:2554 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1744 infores:orphanet PMID:23516378|PMID:21358632 Assessed loss_of_function_variant_form uuid:97735bb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4998 biolink:causes Orphanet:2554 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8487 infores:orphanet PMID:23516378|PMID:21358632 Assessed loss_of_function_variant_form uuid:97735bb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:51053 biolink:causes Orphanet:2554 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:17493 infores:orphanet PMID:26637980 Assessed gain_of_function_variant_form uuid:97735bb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:8318 biolink:causes Orphanet:2554 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1739 infores:orphanet PMID:27374770 Assessed loss_of_function_variant_form uuid:97735bb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3052 biolink:causes Orphanet:2556 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4837 infores:orphanet PMID:17033964 Assessed uuid:97735bb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1349 biolink:causes Orphanet:2556 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2291 infores:orphanet PMID:23122588 Assessed uuid:97735bb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:54539 biolink:causes Orphanet:2556 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20372 infores:orphanet PMID:25772934 Assessed loss_of_function_variant_form uuid:97735bb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4817 biolink:causes Orphanet:728764 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7828 infores:orphanet PMID:38430071 Assessed uuid:97735bba-d8a7-11f1-ae73-e4fade41113c NCBIGene:79639 biolink:causes Orphanet:728902 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26186 infores:orphanet PMID:33824347|PMID:41408477 Assessed uuid:97735bbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7355 biolink:causes Orphanet:729224 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11022 infores:orphanet PMID:39165213 Assessed uuid:97735bbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:114548 biolink:causes Orphanet:575 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16400 infores:orphanet PMID:11687797 Assessed uuid:97735bbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1729 biolink:causes Orphanet:2573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2876 infores:orphanet PMID:34125151 Assessed uuid:97735bbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:59 biolink:contributes_to Orphanet:2573 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:130 infores:orphanet PMID:19409525|PMID:20970362 Assessed uuid:97735bbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:57674 biolink:contributes_to Orphanet:2573 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:14539 infores:orphanet PMID:21048783|PMID:21799892|PMID:22377813 Assessed uuid:97735bc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:55107 biolink:contributes_to Orphanet:2573 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:21625 infores:orphanet PMID:37253099 Assessed uuid:97735bc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:27238 biolink:causes Orphanet:2570 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30677 infores:orphanet PMID:28612833 Assessed uuid:97735bc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:123606 biolink:gene_associated_with_condition Orphanet:261183 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:17043 infores:orphanet PMID:25689425 Assessed uuid:97735bc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:81614 biolink:gene_associated_with_condition Orphanet:261183 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:17044 infores:orphanet PMID:25689425 Assessed uuid:97735bc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7283 biolink:gene_associated_with_condition Orphanet:261183 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12417 infores:orphanet PMID:25689425 Assessed uuid:97735bc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:219285 biolink:causes Orphanet:2585 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1349 infores:orphanet PMID:27259050 Assessed uuid:97735bc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2290 biolink:gene_associated_with_condition Orphanet:261144 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3811 infores:orphanet PMID:23895774 Assessed uuid:97735bc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:23511 biolink:causes Orphanet:729761 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17859 infores:orphanet PMID:40859750 Assessed uuid:97735bc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:54361 biolink:causes Orphanet:2578 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12783 infores:orphanet PMID:18182450 Assessed uuid:97735bc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6928 biolink:causes Orphanet:2578 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11630 infores:orphanet PMID:36282544 Assessed loss_of_function_variant_form uuid:97735bca-d8a7-11f1-ae73-e4fade41113c NCBIGene:4854 biolink:causes Orphanet:729649 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7883 infores:orphanet PMID:39191170 Assessed uuid:97735bcb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4591 biolink:causes Orphanet:2576 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7523 infores:orphanet PMID:19347900 Assessed uuid:97735bcc-d8a7-11f1-ae73-e4fade41113c NCBIGene:5573 biolink:causes Orphanet:1359 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9388 infores:orphanet PMID:20301463 Assessed loss_of_function_variant_form uuid:97735bcd-d8a7-11f1-ae73-e4fade41113c NCBIGene:50940 biolink:contributes_to Orphanet:1359 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:8773 infores:orphanet PMID:21047926 Assessed uuid:97735bce-d8a7-11f1-ae73-e4fade41113c NCBIGene:25970 biolink:gene_associated_with_condition Orphanet:261222 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:30417 infores:orphanet Assessed uuid:97735bcf-d8a7-11f1-ae73-e4fade41113c NCBIGene:84876 biolink:causes Orphanet:2593 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:25896 infores:orphanet PMID:24591628 Assessed gain_of_function_variant_form uuid:97735bd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6786 biolink:causes Orphanet:2593 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11386 infores:orphanet PMID:23332920 Assessed gain_of_function_variant_form uuid:97735bd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:844 biolink:causes Orphanet:2593 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1512 infores:orphanet PMID:28895244|PMID:29039140 Assessed uuid:97735bd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:57680 biolink:gene_associated_with_condition Orphanet:261229 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:20153 infores:orphanet PMID:31823155|PMID:26834018 Assessed uuid:97735bd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:11198 biolink:gene_associated_with_condition Orphanet:261229 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11465 infores:orphanet PMID:31823155|PMID:26834018 Assessed uuid:97735bd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:427 biolink:causes Orphanet:2590 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:735 infores:orphanet PMID:22703880 Assessed uuid:97735bd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:8882 biolink:causes Orphanet:729781 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13051 infores:orphanet PMID:29851065 Assessed loss_of_function_variant_form uuid:97735bd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4089 biolink:causes Orphanet:2588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6770 infores:orphanet PMID:22243968|PMID:22158539|PMID:24398790|PMID:24715504|PMID:24580733 Assessed uuid:97735bd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4212 biolink:gene_associated_with_condition Orphanet:261190 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7001 infores:orphanet PMID:21504564|PMID:20425846|PMID:18561338|PMID:18458017|PMID:17163532|PMID:24678003 Assessed uuid:97735bd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:25970 biolink:gene_associated_with_condition Orphanet:261197 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:30417 infores:orphanet Assessed uuid:97735bd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:650 biolink:gene_associated_with_condition Orphanet:261295 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:1069 infores:orphanet PMID:18812404|PMID:21671386 Assessed uuid:97735bda-d8a7-11f1-ae73-e4fade41113c NCBIGene:9496 biolink:gene_associated_with_condition Orphanet:261279 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11603 infores:orphanet PMID:21271665 Assessed uuid:97735bdb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6928 biolink:gene_associated_with_condition Orphanet:261265 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11630 infores:orphanet Not yet assessed uuid:97735bdc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3975 biolink:gene_associated_with_condition Orphanet:261265 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6593 infores:orphanet PMID:22740494 Assessed uuid:97735bdd-d8a7-11f1-ae73-e4fade41113c NCBIGene:29123 biolink:gene_associated_with_condition Orphanet:261250 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:21316 infores:orphanet Not yet assessed uuid:97735bde-d8a7-11f1-ae73-e4fade41113c NCBIGene:9820 biolink:causes Orphanet:2616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21024 infores:orphanet PMID:20301654 Assessed uuid:97735bdf-d8a7-11f1-ae73-e4fade41113c NCBIGene:23363 biolink:causes Orphanet:2616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29092 infores:orphanet PMID:20301654 Assessed uuid:97735be0-d8a7-11f1-ae73-e4fade41113c NCBIGene:83987 biolink:causes Orphanet:2616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25367 infores:orphanet PMID:20301654|PMID:21737058 Assessed uuid:97735be1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4010 biolink:causes Orphanet:2613 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6654 infores:orphanet PMID:25713721|PMID:24042019 Assessed uuid:97735be2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7531 biolink:gene_associated_with_condition Orphanet:261257 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12851 infores:orphanet PMID:20599530 Assessed uuid:97735be3-d8a7-11f1-ae73-e4fade41113c NCBIGene:53335 biolink:gene_associated_with_condition Orphanet:261349 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:13221 infores:orphanet PMID:25979662 Assessed uuid:97735be4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7514 biolink:gene_associated_with_condition Orphanet:261349 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12825 infores:orphanet PMID:40819229|PMID:27699255 Assessed uuid:97735be5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5966 biolink:gene_associated_with_condition Orphanet:261349 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9954 infores:orphanet PMID:27699255 Assessed uuid:97735be6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10943 biolink:causes Orphanet:730261 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7370 infores:orphanet PMID:30224647|PMID:33173220 Assessed uuid:97735be7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:2623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet PMID:20301776|PMID:21683322 Assessed uuid:97735be8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9719 biolink:causes Orphanet:2623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14631 infores:orphanet PMID:20301776 Assessed uuid:97735be9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4054 biolink:causes Orphanet:2623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6716 infores:orphanet PMID:27068007 Assessed uuid:97735bea-d8a7-11f1-ae73-e4fade41113c NCBIGene:613 biolink:gene_associated_with_condition Orphanet:261330 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:1014 infores:orphanet Assessed uuid:97735beb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5594 biolink:gene_associated_with_condition Orphanet:261330 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6871 infores:orphanet Assessed uuid:97735bec-d8a7-11f1-ae73-e4fade41113c NCBIGene:1399 biolink:gene_associated_with_condition Orphanet:261330 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2363 infores:orphanet Assessed uuid:97735bed-d8a7-11f1-ae73-e4fade41113c NCBIGene:56992 biolink:causes Orphanet:261323 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17273 infores:orphanet PMID:28150392|PMID:27549381 Assessed loss_of_function_variant_form uuid:97735bee-d8a7-11f1-ae73-e4fade41113c NCBIGene:658 biolink:causes Orphanet:2639 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1077 infores:orphanet PMID:26105076 Assessed uuid:97735bef-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:2639 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4220 infores:orphanet PMID:16222676 Assessed loss_of_function_variant_form uuid:97735bf0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2222 biolink:causes Orphanet:730300 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in infores:orphanet PMID:29909962 Assessed uuid:97735bf1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2332 biolink:gene_associated_with_condition Orphanet:261483 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3775 infores:orphanet PMID:19844254 Assessed uuid:97735bf2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6473 biolink:causes Orphanet:2632 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10853 infores:orphanet PMID:12116254|PMID:20301394 Assessed loss_of_function_variant_form uuid:97735bf3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4613 biolink:causes Orphanet:730286 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:7559 infores:orphanet PMID:37710961 Assessed gain_of_function_variant_form uuid:97735bf4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:2645 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3688 infores:orphanet PMID:15625620 Assessed gain_of_function_variant_form uuid:97735bf5-d8a7-11f1-ae73-e4fade41113c NCBIGene:324 biolink:gene_associated_with_condition Orphanet:261584 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:583 infores:orphanet PMID:20301519 Assessed uuid:97735bf6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3710 biolink:causes Orphanet:730332 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6182 infores:orphanet PMID:38938188|PMID:32949214|PMID:39270020 Assessed uuid:97735bf7-d8a7-11f1-ae73-e4fade41113c NCBIGene:182 biolink:gene_associated_with_condition Orphanet:261600 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6188 infores:orphanet PMID:21934706 Assessed uuid:97735bf8-d8a7-11f1-ae73-e4fade41113c NCBIGene:182 biolink:causes Orphanet:261619 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6188 infores:orphanet PMID:21934706 Assessed uuid:97735bf9-d8a7-11f1-ae73-e4fade41113c NCBIGene:9839 biolink:gene_associated_with_condition Orphanet:261537 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14881 infores:orphanet PMID:20301585 Assessed uuid:97735bfa-d8a7-11f1-ae73-e4fade41113c NCBIGene:4677 biolink:causes Orphanet:730327 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7643 infores:orphanet PMID:32738225 Assessed uuid:97735bfb-d8a7-11f1-ae73-e4fade41113c NCBIGene:9839 biolink:causes Orphanet:261552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14881 infores:orphanet PMID:20301585 Assessed uuid:97735bfc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3710 biolink:causes Orphanet:730318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6182 infores:orphanet PMID:36302985|PMID:39270020|PMID:39560673 Assessed uuid:97735bfd-d8a7-11f1-ae73-e4fade41113c NCBIGene:100151683 biolink:causes Orphanet:2636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34016 infores:orphanet PMID:21815888|PMID:23794361 Assessed uuid:97735bfe-d8a7-11f1-ae73-e4fade41113c NCBIGene:9791 biolink:causes Orphanet:2658 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9587 infores:orphanet PMID:24241535 Assessed gain_of_function_variant_form uuid:97735bff-d8a7-11f1-ae73-e4fade41113c NCBIGene:4853 biolink:causes Orphanet:261629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7882 infores:orphanet PMID:21934706 Assessed uuid:97735c00-d8a7-11f1-ae73-e4fade41113c NCBIGene:57167 biolink:gene_associated_with_condition Orphanet:261638 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:15924 infores:orphanet PMID:16086360|PMID:20301547 Assessed uuid:97735c01-d8a7-11f1-ae73-e4fade41113c NCBIGene:57167 biolink:causes Orphanet:261647 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15924 infores:orphanet PMID:16086360|PMID:20301547 Assessed uuid:97735c02-d8a7-11f1-ae73-e4fade41113c NCBIGene:23429 biolink:causes Orphanet:730355 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10480 infores:orphanet PMID:39891528 Assessed uuid:97735c03-d8a7-11f1-ae73-e4fade41113c NCBIGene:79813 biolink:causes Orphanet:261652 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24650 infores:orphanet PMID:20945554 Assessed loss_of_function_variant_form uuid:97735c04-d8a7-11f1-ae73-e4fade41113c NCBIGene:58508 biolink:causes Orphanet:261652 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13726 infores:orphanet PMID:29069077 Assessed loss_of_function_variant_form uuid:97735c05-d8a7-11f1-ae73-e4fade41113c NCBIGene:4128 biolink:causes Orphanet:3057 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6833 infores:orphanet PMID:8211186|PMID:24169519 Assessed uuid:97735c06-d8a7-11f1-ae73-e4fade41113c NCBIGene:23522 biolink:causes Orphanet:3047 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17582 infores:orphanet PMID:22715153|PMID:23236640 Assessed uuid:97735c07-d8a7-11f1-ae73-e4fade41113c NCBIGene:26137 biolink:causes Orphanet:3042 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13503 infores:orphanet PMID:25017102 Assessed uuid:97735c08-d8a7-11f1-ae73-e4fade41113c NCBIGene:6598 biolink:causes Orphanet:263662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11103 infores:orphanet PMID:20930055 Assessed uuid:97735c09-d8a7-11f1-ae73-e4fade41113c NCBIGene:51684 biolink:contributes_to Orphanet:263662 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16466 infores:orphanet PMID:22958902 Assessed uuid:97735c0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5155 biolink:gene_associated_with_condition Orphanet:263662 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:8800 infores:orphanet PMID:3969118 Not yet assessed uuid:97735c0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6605 biolink:causes Orphanet:263662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11109 infores:orphanet PMID:23377182 Assessed loss_of_function_variant_form uuid:97735c0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4330 biolink:gene_associated_with_condition Orphanet:263662 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7180 infores:orphanet Not yet assessed uuid:97735c0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:64377 biolink:causes Orphanet:263548 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15993 infores:orphanet PMID:22289416 Assessed loss_of_function_variant_form uuid:97735c0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5271 biolink:causes Orphanet:263548 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8952 infores:orphanet PMID:27476651 Assessed loss_of_function_variant_form uuid:97735c0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:388698 biolink:causes Orphanet:263548 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:33276 infores:orphanet PMID:28884927 Assessed loss_of_function_variant_form uuid:97735c10-d8a7-11f1-ae73-e4fade41113c NCBIGene:1041 biolink:causes Orphanet:263553 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1802 infores:orphanet Assessed uuid:97735c11-d8a7-11f1-ae73-e4fade41113c NCBIGene:27031 biolink:causes Orphanet:3032 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7907 infores:orphanet PMID:18371931 Assessed uuid:97735c12-d8a7-11f1-ae73-e4fade41113c NCBIGene:9333 biolink:causes Orphanet:263534 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11781 infores:orphanet PMID:9767297 Assessed uuid:97735c13-d8a7-11f1-ae73-e4fade41113c NCBIGene:1475 biolink:causes Orphanet:263534 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2481 infores:orphanet PMID:26684698 Assessed uuid:97735c14-d8a7-11f1-ae73-e4fade41113c NCBIGene:154881 biolink:causes Orphanet:263516 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21957 infores:orphanet PMID:22693283|PMID:22748208 Assessed uuid:97735c15-d8a7-11f1-ae73-e4fade41113c NCBIGene:1376 biolink:gene_associated_with_condition Orphanet:263524 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2330 infores:orphanet PMID:20934285 Not yet assessed uuid:97735c16-d8a7-11f1-ae73-e4fade41113c NCBIGene:5903 biolink:gene_associated_with_condition Orphanet:263524 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9848 infores:orphanet PMID:19807769 Not yet assessed uuid:97735c17-d8a7-11f1-ae73-e4fade41113c NCBIGene:25839 biolink:causes Orphanet:263501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18620 infores:orphanet PMID:20301507 Assessed uuid:97735c18-d8a7-11f1-ae73-e4fade41113c NCBIGene:9382 biolink:causes Orphanet:263508 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6545 infores:orphanet PMID:20301507 Assessed uuid:97735c19-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:263482 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18083 infores:orphanet PMID:20503319|PMID:24830047 Assessed uuid:97735c1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9401 biolink:causes Orphanet:3021 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9949 infores:orphanet PMID:12952869|PMID:18716613 Assessed uuid:97735c1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:54344 biolink:causes Orphanet:263494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3007 infores:orphanet PMID:20301507 Assessed uuid:97735c1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10466 biolink:causes Orphanet:263487 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14857 infores:orphanet PMID:20301507 Assessed uuid:97735c1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3643 biolink:causes Orphanet:263458 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6091 infores:orphanet PMID:15161766 Assessed uuid:97735c1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:56975 biolink:causes Orphanet:1832 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:22140 infores:orphanet PMID:25019372 Assessed loss_of_function_variant_form uuid:97735c1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3172 biolink:causes Orphanet:263455 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5024 infores:orphanet PMID:20931292|PMID:25733449 Assessed uuid:97735c20-d8a7-11f1-ae73-e4fade41113c NCBIGene:63916 biolink:causes Orphanet:3019 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17233 infores:orphanet PMID:29095483 Assessed uuid:97735c21-d8a7-11f1-ae73-e4fade41113c NCBIGene:9469 biolink:causes Orphanet:263463 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1971 infores:orphanet PMID:20830804|PMID:21882400 Assessed uuid:97735c22-d8a7-11f1-ae73-e4fade41113c NCBIGene:80704 biolink:causes Orphanet:263410 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16266 infores:orphanet PMID:21176162 Assessed uuid:97735c23-d8a7-11f1-ae73-e4fade41113c NCBIGene:3643 biolink:causes Orphanet:769 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6091 infores:orphanet PMID:21869538|PMID:17201797 Assessed loss_of_function_variant_form uuid:97735c24-d8a7-11f1-ae73-e4fade41113c NCBIGene:6424 biolink:causes Orphanet:3005 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10778 infores:orphanet PMID:27355534 Assessed loss_of_function_variant_form uuid:97735c25-d8a7-11f1-ae73-e4fade41113c NCBIGene:7439 biolink:causes Orphanet:263347 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12703 infores:orphanet PMID:15452077 Assessed uuid:97735c26-d8a7-11f1-ae73-e4fade41113c NCBIGene:1146 biolink:causes Orphanet:2990 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1967 infores:orphanet PMID:22167768 Assessed uuid:97735c27-d8a7-11f1-ae73-e4fade41113c NCBIGene:4621 biolink:causes Orphanet:2990 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7573 infores:orphanet PMID:29805041 Assessed uuid:97735c28-d8a7-11f1-ae73-e4fade41113c NCBIGene:2992 biolink:causes Orphanet:263297 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4699 infores:orphanet PMID:20357282 Assessed uuid:97735c29-d8a7-11f1-ae73-e4fade41113c NCBIGene:6926 biolink:causes Orphanet:3138 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11602 infores:orphanet PMID:19938096|PMID:10330342|PMID:12668170 Assessed loss_of_function_variant_form uuid:97735c2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23169 biolink:causes Orphanet:3144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20800 infores:orphanet PMID:19508970 Assessed loss_of_function_variant_form uuid:97735c2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3636 biolink:causes Orphanet:3144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6080 infores:orphanet PMID:25997753 Assessed uuid:97735c2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:26040 biolink:causes Orphanet:798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:15573 infores:orphanet PMID:20436468|PMID:21371013 Assessed gain_of_function_variant_form uuid:97735c2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5376 biolink:causes Orphanet:3115 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9118 infores:orphanet PMID:9543325|PMID:18592125 Assessed uuid:97735c2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4359 biolink:causes Orphanet:3115 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7225 infores:orphanet PMID:10553995 Assessed uuid:97735c2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9775 biolink:causes Orphanet:3102 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18683 infores:orphanet PMID:24360804 Assessed loss_of_function_variant_form uuid:97735c30-d8a7-11f1-ae73-e4fade41113c NCBIGene:7474 biolink:causes Orphanet:3107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12784 infores:orphanet PMID:19918918 Assessed uuid:97735c31-d8a7-11f1-ae73-e4fade41113c NCBIGene:1855 biolink:causes Orphanet:3107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3084 infores:orphanet PMID:25817016 Assessed uuid:97735c32-d8a7-11f1-ae73-e4fade41113c NCBIGene:2535 biolink:causes Orphanet:3107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4040 infores:orphanet PMID:29276006 Assessed uuid:97735c33-d8a7-11f1-ae73-e4fade41113c NCBIGene:1857 biolink:causes Orphanet:3107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3087 infores:orphanet PMID:26924530 Assessed uuid:97735c34-d8a7-11f1-ae73-e4fade41113c NCBIGene:7439 biolink:causes Orphanet:3086 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12703 infores:orphanet PMID:18611979|PMID:21072067 Assessed uuid:97735c35-d8a7-11f1-ae73-e4fade41113c NCBIGene:26277 biolink:causes Orphanet:3088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11824 infores:orphanet PMID:18252230|PMID:21477109 Assessed uuid:97735c36-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:causes Orphanet:3097 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12796 infores:orphanet PMID:17853480|PMID:21959952 Assessed uuid:97735c37-d8a7-11f1-ae73-e4fade41113c NCBIGene:27316 biolink:causes Orphanet:3078 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9910 infores:orphanet PMID:37277488 Assessed uuid:97735c38-d8a7-11f1-ae73-e4fade41113c NCBIGene:4204 biolink:causes Orphanet:3077 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6990 infores:orphanet PMID:11885030 Assessed uuid:97735c39-d8a7-11f1-ae73-e4fade41113c NCBIGene:6611 biolink:causes Orphanet:3063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11123 infores:orphanet PMID:23805436 Assessed loss_of_function_variant_form uuid:97735c3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8241 biolink:causes Orphanet:2886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9896 infores:orphanet PMID:21910224 Assessed uuid:97735c3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6591 biolink:causes Orphanet:2884 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11094 infores:orphanet PMID:12955764|PMID:24443330 Assessed uuid:97735c3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:2884 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6342 infores:orphanet PMID:22670867|PMID:25199540 Assessed loss_of_function_variant_form uuid:97735c3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7476 biolink:causes Orphanet:2879 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12786 infores:orphanet PMID:23922166|PMID:23266637 Assessed loss_of_function_variant_form uuid:97735c3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:22943 biolink:causes Orphanet:268882 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2891 infores:orphanet PMID:28513615 Assessed uuid:97735c3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51339 biolink:causes Orphanet:268823 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17748 infores:orphanet PMID:22610794 Assessed uuid:97735c40-d8a7-11f1-ae73-e4fade41113c NCBIGene:3265 biolink:causes Orphanet:2874 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5173 infores:orphanet PMID:23337891 Assessed uuid:97735c41-d8a7-11f1-ae73-e4fade41113c NCBIGene:10216 biolink:causes Orphanet:2848 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9364 infores:orphanet PMID:10545950 Assessed uuid:97735c42-d8a7-11f1-ae73-e4fade41113c NCBIGene:7476 biolink:causes Orphanet:2854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12786 infores:orphanet PMID:23922166|PMID:23266637 Assessed loss_of_function_variant_form uuid:97735c43-d8a7-11f1-ae73-e4fade41113c NCBIGene:5308 biolink:gene_associated_with_condition Orphanet:708 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9005 infores:orphanet PMID:10051017 Not yet assessed uuid:97735c44-d8a7-11f1-ae73-e4fade41113c NCBIGene:1545 biolink:causes Orphanet:708 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2597 infores:orphanet PMID:11403040|PMID:15621878|PMID:16735991 Assessed uuid:97735c45-d8a7-11f1-ae73-e4fade41113c NCBIGene:2296 biolink:causes Orphanet:708 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3800 infores:orphanet PMID:9620769|PMID:11170889|PMID:12614756|PMID:18498376 Assessed uuid:97735c46-d8a7-11f1-ae73-e4fade41113c NCBIGene:2301 biolink:causes Orphanet:708 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3808 infores:orphanet PMID:27218149 Assessed uuid:97735c47-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:708 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:8162071|PMID:10441571|PMID:15090434 Assessed uuid:97735c48-d8a7-11f1-ae73-e4fade41113c NCBIGene:3694 biolink:causes Orphanet:2850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6161 infores:orphanet PMID:26695873 Assessed uuid:97735c49-d8a7-11f1-ae73-e4fade41113c NCBIGene:4047 biolink:causes Orphanet:2850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6708 infores:orphanet PMID:30723320 Assessed uuid:97735c4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:197 biolink:causes Orphanet:2850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:349 infores:orphanet PMID:28054173 Assessed uuid:97735c4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:causes Orphanet:268114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6407 infores:orphanet PMID:21079152 Assessed uuid:97735c4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4893 biolink:causes Orphanet:268114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7989 infores:orphanet PMID:17517660|PMID:21079152 Assessed uuid:97735c4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9499 biolink:causes Orphanet:268129 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12399 infores:orphanet PMID:16380616 Assessed uuid:97735c4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:80208 biolink:causes Orphanet:2822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11226 infores:orphanet PMID:19105190|PMID:17322883 Assessed uuid:97735c4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1859 biolink:gene_associated_with_condition Orphanet:268261 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3091 infores:orphanet PMID:21031080|PMID:25944381|PMID:26677511 Assessed uuid:97735c50-d8a7-11f1-ae73-e4fade41113c NCBIGene:9326 biolink:causes Orphanet:2836 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12309 infores:orphanet PMID:28335020 Assessed loss_of_function_variant_form uuid:97735c51-d8a7-11f1-ae73-e4fade41113c NCBIGene:593 biolink:causes Orphanet:268162 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:986 infores:orphanet PMID:20301495 Assessed uuid:97735c52-d8a7-11f1-ae73-e4fade41113c NCBIGene:594 biolink:causes Orphanet:268162 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:987 infores:orphanet PMID:20301495 Assessed loss_of_function_variant_form uuid:97735c53-d8a7-11f1-ae73-e4fade41113c NCBIGene:1629 biolink:causes Orphanet:268162 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2698 infores:orphanet PMID:20301495 Assessed loss_of_function_variant_form uuid:97735c54-d8a7-11f1-ae73-e4fade41113c NCBIGene:152926 biolink:causes Orphanet:268162 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25415 infores:orphanet PMID:23086801 Assessed uuid:97735c55-d8a7-11f1-ae73-e4fade41113c NCBIGene:593 biolink:causes Orphanet:268145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:986 infores:orphanet PMID:20301495 Assessed uuid:97735c56-d8a7-11f1-ae73-e4fade41113c NCBIGene:594 biolink:causes Orphanet:268145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:987 infores:orphanet PMID:20301495 Assessed loss_of_function_variant_form uuid:97735c57-d8a7-11f1-ae73-e4fade41113c NCBIGene:1629 biolink:causes Orphanet:268145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2698 infores:orphanet PMID:20301495 Assessed loss_of_function_variant_form uuid:97735c58-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:2833 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet PMID:20375004 Assessed uuid:97735c59-d8a7-11f1-ae73-e4fade41113c NCBIGene:1629 biolink:causes Orphanet:268184 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2698 infores:orphanet PMID:20301495 Assessed loss_of_function_variant_form uuid:97735c5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23545 biolink:causes Orphanet:2834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18481 infores:orphanet PMID:18157129 Assessed loss_of_function_variant_form uuid:97735c5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:593 biolink:causes Orphanet:268173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:986 infores:orphanet PMID:20301495 Assessed uuid:97735c5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:594 biolink:causes Orphanet:268173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:987 infores:orphanet PMID:20301495 Assessed loss_of_function_variant_form uuid:97735c5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1629 biolink:causes Orphanet:268173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2698 infores:orphanet PMID:20301495 Assessed loss_of_function_variant_form uuid:97735c5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:2969 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9588 infores:orphanet PMID:10749983|PMID:20301661 Assessed uuid:97735c5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1311 biolink:causes Orphanet:750 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2227 infores:orphanet PMID:20301660 Assessed uuid:97735c60-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:causes Orphanet:1848 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9967 infores:orphanet PMID:18252215 Assessed loss_of_function_variant_form uuid:97735c61-d8a7-11f1-ae73-e4fade41113c NCBIGene:8516 biolink:causes Orphanet:1848 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6144 infores:orphanet PMID:24439109 Assessed uuid:97735c62-d8a7-11f1-ae73-e4fade41113c NCBIGene:26281 biolink:causes Orphanet:1848 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3677 infores:orphanet PMID:22698282 Assessed loss_of_function_variant_form uuid:97735c63-d8a7-11f1-ae73-e4fade41113c NCBIGene:80000 biolink:causes Orphanet:1848 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:31042 infores:orphanet PMID:29100090|PMID:29100091 Assessed loss_of_function_variant_form uuid:97735c64-d8a7-11f1-ae73-e4fade41113c NCBIGene:7484 biolink:causes Orphanet:1848 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12779 infores:orphanet PMID:34145744 Assessed loss_of_function_variant_form uuid:97735c65-d8a7-11f1-ae73-e4fade41113c NCBIGene:2674 biolink:causes Orphanet:1848 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4243 infores:orphanet PMID:34737117 Assessed uuid:97735c66-d8a7-11f1-ae73-e4fade41113c NCBIGene:10269 biolink:causes Orphanet:740 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12877 infores:orphanet PMID:16671095 Assessed uuid:97735c67-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:740 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:20301300 Assessed uuid:97735c68-d8a7-11f1-ae73-e4fade41113c NCBIGene:3209 biolink:causes Orphanet:2957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5102 infores:orphanet PMID:11968094 Assessed uuid:97735c69-d8a7-11f1-ae73-e4fade41113c NCBIGene:5589 biolink:causes Orphanet:2924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9411 infores:orphanet PMID:24886261 Assessed uuid:97735c6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:11231 biolink:causes Orphanet:2924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21082 infores:orphanet PMID:24886261 Assessed uuid:97735c6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79053 biolink:causes Orphanet:2924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23161 infores:orphanet PMID:28375157 Assessed uuid:97735c6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:causes Orphanet:2924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6697 infores:orphanet PMID:24706814 Assessed uuid:97735c6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6925 biolink:gene_associated_with_condition Orphanet:2896 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11634 infores:orphanet PMID:30450687 Assessed uuid:97735c6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6925 biolink:causes Orphanet:2896 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11634 infores:orphanet PMID:22934316 Assessed loss_of_function_variant_form uuid:97735c6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4054 biolink:causes Orphanet:2899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6716 infores:orphanet PMID:25669657 Assessed uuid:97735c70-d8a7-11f1-ae73-e4fade41113c NCBIGene:5256 biolink:causes Orphanet:264580 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8926 infores:orphanet Assessed uuid:97735c71-d8a7-11f1-ae73-e4fade41113c NCBIGene:5261 biolink:causes Orphanet:264580 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8931 infores:orphanet Assessed uuid:97735c72-d8a7-11f1-ae73-e4fade41113c NCBIGene:83479 biolink:causes Orphanet:2919 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25360 infores:orphanet PMID:23972372 Assessed uuid:97735c73-d8a7-11f1-ae73-e4fade41113c NCBIGene:1439 biolink:causes Orphanet:264675 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2436 infores:orphanet PMID:21075760|PMID:21205713 Assessed uuid:97735c74-d8a7-11f1-ae73-e4fade41113c NCBIGene:1438 biolink:causes Orphanet:264675 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2435 infores:orphanet PMID:18955570 Assessed uuid:97735c75-d8a7-11f1-ae73-e4fade41113c NCBIGene:4626 biolink:causes Orphanet:3377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7578 infores:orphanet PMID:17041932|PMID:18049072 Assessed uuid:97735c76-d8a7-11f1-ae73-e4fade41113c NCBIGene:94 biolink:gene_associated_with_condition Orphanet:275777 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:175 infores:orphanet PMID:24951767|PMID:24956016|PMID:24936649|PMID:22632830|PMID:23298310 Not yet assessed uuid:97735c77-d8a7-11f1-ae73-e4fade41113c NCBIGene:659 biolink:causes Orphanet:275777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1078 infores:orphanet PMID:19555857|PMID:20301658|PMID:24951767 Assessed loss_of_function_variant_form uuid:97735c78-d8a7-11f1-ae73-e4fade41113c NCBIGene:9496 biolink:causes Orphanet:275777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11603 infores:orphanet PMID:23502781|PMID:23592887 Assessed uuid:97735c79-d8a7-11f1-ae73-e4fade41113c NCBIGene:2022 biolink:gene_associated_with_condition Orphanet:275777 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3349 infores:orphanet PMID:24951767|PMID:15687131|PMID:15115879|PMID:23298310 Not yet assessed uuid:97735c7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:857 biolink:causes Orphanet:275777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1527 infores:orphanet PMID:22474227 Assessed uuid:97735c7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4093 biolink:causes Orphanet:275777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6774 infores:orphanet PMID:21920918 Assessed uuid:97735c7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:64321 biolink:contributes_to Orphanet:275777 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:18122 infores:orphanet PMID:30029678 Assessed uuid:97735c7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3777 biolink:causes Orphanet:275777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6278 infores:orphanet PMID:23883380|PMID:24951767 Assessed loss_of_function_variant_form uuid:97735c7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2658 biolink:causes Orphanet:275777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4217 infores:orphanet PMID:37249087 Assessed uuid:97735c7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:440275 biolink:causes Orphanet:275777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19687 infores:orphanet PMID:25512148 Assessed loss_of_function_variant_form uuid:97735c80-d8a7-11f1-ae73-e4fade41113c NCBIGene:79572 biolink:causes Orphanet:275777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24113 infores:orphanet PMID:34493544 Assessed uuid:97735c81-d8a7-11f1-ae73-e4fade41113c NCBIGene:659 biolink:contributes_to Orphanet:275786 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1078 infores:orphanet PMID:22523367 Assessed uuid:97735c82-d8a7-11f1-ae73-e4fade41113c NCBIGene:3106 biolink:gene_associated_with_condition Orphanet:275798 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4932 infores:orphanet Not yet assessed uuid:97735c83-d8a7-11f1-ae73-e4fade41113c NCBIGene:10908 biolink:causes Orphanet:3363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16268 infores:orphanet PMID:25480986 Assessed loss_of_function_variant_form uuid:97735c84-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:3366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3688 infores:orphanet PMID:11173846 Assessed uuid:97735c85-d8a7-11f1-ae73-e4fade41113c NCBIGene:158326 biolink:causes Orphanet:3366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23399 infores:orphanet PMID:21931569 Assessed uuid:97735c86-d8a7-11f1-ae73-e4fade41113c NCBIGene:8091 biolink:gene_associated_with_condition Orphanet:276148 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:5009 infores:orphanet PMID:23821214 Assessed uuid:97735c87-d8a7-11f1-ae73-e4fade41113c NCBIGene:5324 biolink:gene_associated_with_condition Orphanet:276148 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9045 infores:orphanet PMID:21394649|PMID:23821214 Assessed uuid:97735c88-d8a7-11f1-ae73-e4fade41113c NCBIGene:5587 biolink:causes Orphanet:276145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9407 infores:orphanet PMID:25240283 Assessed uuid:97735c89-d8a7-11f1-ae73-e4fade41113c NCBIGene:2187 biolink:causes Orphanet:3412 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3583 infores:orphanet PMID:21910217 Assessed loss_of_function_variant_form uuid:97735c8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1027 biolink:causes Orphanet:276152 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1785 infores:orphanet PMID:25416039 Assessed loss_of_function_variant_form uuid:97735c8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7415 biolink:causes Orphanet:275872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12666 infores:orphanet PMID:21145000 Assessed uuid:97735c8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23435 biolink:causes Orphanet:275872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11571 infores:orphanet Assessed uuid:97735c8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2521 biolink:gene_associated_with_condition Orphanet:275872 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4010 infores:orphanet PMID:23597030 Not yet assessed uuid:97735c8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8878 biolink:causes Orphanet:275872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11280 infores:orphanet PMID:24042580 Assessed uuid:97735c8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:203228 biolink:causes Orphanet:275872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28337 infores:orphanet PMID:23597030 Assessed uuid:97735c90-d8a7-11f1-ae73-e4fade41113c NCBIGene:29110 biolink:causes Orphanet:275872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11584 infores:orphanet PMID:25803835 Assessed loss_of_function_variant_form uuid:97735c91-d8a7-11f1-ae73-e4fade41113c NCBIGene:400916 biolink:causes Orphanet:275872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15559 infores:orphanet PMID:24934289 Assessed uuid:97735c92-d8a7-11f1-ae73-e4fade41113c NCBIGene:23129 biolink:causes Orphanet:3384 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9107 infores:orphanet PMID:24254849 Assessed uuid:97735c93-d8a7-11f1-ae73-e4fade41113c NCBIGene:5663 biolink:causes Orphanet:275864 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9508 infores:orphanet PMID:11094121 Assessed uuid:97735c94-d8a7-11f1-ae73-e4fade41113c NCBIGene:25978 biolink:contributes_to Orphanet:275864 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:24537 infores:orphanet PMID:22355793|PMID:23597030 Assessed uuid:97735c95-d8a7-11f1-ae73-e4fade41113c NCBIGene:54209 biolink:contributes_to Orphanet:275864 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17761 infores:orphanet PMID:24139279|PMID:25042114 Assessed uuid:97735c96-d8a7-11f1-ae73-e4fade41113c NCBIGene:7415 biolink:gene_associated_with_condition Orphanet:275864 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12666 infores:orphanet PMID:23597030 Not yet assessed uuid:97735c97-d8a7-11f1-ae73-e4fade41113c NCBIGene:4137 biolink:contributes_to Orphanet:275864 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6893 infores:orphanet PMID:23597030 Assessed uuid:97735c98-d8a7-11f1-ae73-e4fade41113c NCBIGene:2896 biolink:contributes_to Orphanet:275864 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4601 infores:orphanet PMID:23597030|PMID:23392204 Assessed uuid:97735c99-d8a7-11f1-ae73-e4fade41113c NCBIGene:8878 biolink:causes Orphanet:275864 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11280 infores:orphanet PMID:24042580 Assessed uuid:97735c9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:203228 biolink:contributes_to Orphanet:275864 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:28337 infores:orphanet PMID:23597030|PMID:23392204 Assessed uuid:97735c9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:54664 biolink:contributes_to Orphanet:275864 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:22407 infores:orphanet PMID:27543298|PMID:21614538 Assessed uuid:97735c9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:727857 biolink:gene_associated_with_condition Orphanet:3329 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:35126 infores:orphanet Not yet assessed uuid:97735c9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1736 biolink:causes Orphanet:3322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2890 infores:orphanet PMID:33734615 Assessed uuid:97735c9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:causes Orphanet:3322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11730 infores:orphanet PMID:17785587|PMID:23335200 Assessed uuid:97735c9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:26277 biolink:causes Orphanet:3322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11824 infores:orphanet PMID:22078571|PMID:21199492|PMID:18669893|PMID:20301779 Assessed uuid:97735ca0-d8a7-11f1-ae73-e4fade41113c NCBIGene:51750 biolink:causes Orphanet:3322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15888 infores:orphanet PMID:23329068|PMID:23453664 Assessed uuid:97735ca1-d8a7-11f1-ae73-e4fade41113c NCBIGene:65057 biolink:causes Orphanet:3322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25070 infores:orphanet PMID:25233904 Assessed uuid:97735ca2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5073 biolink:causes Orphanet:3322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8609 infores:orphanet PMID:25893599 Assessed uuid:97735ca3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7012 biolink:causes Orphanet:3322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11727 infores:orphanet PMID:37037617 Assessed uuid:97735ca4-d8a7-11f1-ae73-e4fade41113c NCBIGene:219736 biolink:contributes_to Orphanet:275555 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:23508 infores:orphanet PMID:21490791 Assessed uuid:97735ca5-d8a7-11f1-ae73-e4fade41113c NCBIGene:10699 biolink:contributes_to Orphanet:275555 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:19012 infores:orphanet PMID:22437503 Assessed uuid:97735ca6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2321 biolink:contributes_to Orphanet:275555 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3763 infores:orphanet PMID:28628106 Assessed uuid:97735ca7-d8a7-11f1-ae73-e4fade41113c NCBIGene:841 biolink:causes Orphanet:275517 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1509 infores:orphanet PMID:21447005|PMID:16446975|PMID:20301287 Assessed uuid:97735ca8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1747 biolink:causes Orphanet:3352 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2916 infores:orphanet PMID:18492670|PMID:22969805 Assessed loss_of_function_variant_form uuid:97735ca9-d8a7-11f1-ae73-e4fade41113c NCBIGene:81031 biolink:causes Orphanet:3342 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13444 infores:orphanet PMID:16550171|PMID:17935213|PMID:20547159 Assessed loss_of_function_variant_form uuid:97735caa-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:causes Orphanet:3339 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6407 infores:orphanet PMID:25808193 Assessed uuid:97735cab-d8a7-11f1-ae73-e4fade41113c NCBIGene:1654 biolink:causes Orphanet:3338 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2745 infores:orphanet PMID:28371085|PMID:26235985 Assessed loss_of_function_variant_form uuid:97735cac-d8a7-11f1-ae73-e4fade41113c NCBIGene:9896 biolink:causes Orphanet:3472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16873 infores:orphanet PMID:23623387 Assessed loss_of_function_variant_form uuid:97735cad-d8a7-11f1-ae73-e4fade41113c NCBIGene:55697 biolink:causes Orphanet:3472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25507 infores:orphanet PMID:28635952 Assessed uuid:97735cae-d8a7-11f1-ae73-e4fade41113c NCBIGene:526 biolink:causes Orphanet:3473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:854 infores:orphanet PMID:25915598 Assessed uuid:97735caf-d8a7-11f1-ae73-e4fade41113c NCBIGene:3756 biolink:causes Orphanet:3473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6250 infores:orphanet PMID:25915598 Assessed uuid:97735cb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3782 biolink:causes Orphanet:3473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6292 infores:orphanet PMID:31155282 Assessed gain_of_function_variant_form uuid:97735cb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:55869 biolink:causes Orphanet:3459 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13315 infores:orphanet PMID:22889856 Assessed loss_of_function_variant_form uuid:97735cb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:81887 biolink:causes Orphanet:3459 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25726 infores:orphanet PMID:25644381 Assessed uuid:97735cb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:80067 biolink:causes Orphanet:3464 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25784 infores:orphanet PMID:29574468 Assessed uuid:97735cb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:60 biolink:causes Orphanet:2995 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:132 infores:orphanet PMID:22366783 Assessed gain_of_function_variant_form uuid:97735cb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:71 biolink:causes Orphanet:2995 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:144 infores:orphanet PMID:22366783 Assessed gain_of_function_variant_form uuid:97735cb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4210 biolink:causes Orphanet:3243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6998 infores:orphanet PMID:28835462 Assessed uuid:97735cb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5777 biolink:contributes_to Orphanet:3243 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9658 infores:orphanet PMID:21406173 Assessed uuid:97735cb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:57688 biolink:causes Orphanet:1827 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29316 infores:orphanet PMID:25105228 Assessed uuid:97735cb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7355 biolink:causes Orphanet:268973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11022 infores:orphanet PMID:29679388 Assessed uuid:97735cba-d8a7-11f1-ae73-e4fade41113c NCBIGene:7248 biolink:causes Orphanet:269008 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12362 infores:orphanet PMID:28215400 Assessed uuid:97735cbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7249 biolink:causes Orphanet:269008 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12363 infores:orphanet PMID:28215400 Assessed uuid:97735cbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2475 biolink:causes Orphanet:269008 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3942 infores:orphanet PMID:25799227 Assessed uuid:97735cbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:7249 biolink:causes Orphanet:269001 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12363 infores:orphanet PMID:28215400 Assessed uuid:97735cbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:2475 biolink:causes Orphanet:269001 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3942 infores:orphanet PMID:25799227 Assessed uuid:97735cbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:91179 biolink:causes Orphanet:2460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19869 infores:orphanet PMID:20887961|PMID:22140376 Assessed uuid:97735cc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:causes Orphanet:3416 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6697 infores:orphanet PMID:12579474 Assessed uuid:97735cc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:50964 biolink:causes Orphanet:3416 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13771 infores:orphanet PMID:11836356|PMID:20301406 Assessed uuid:97735cc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:326 biolink:causes Orphanet:3453 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:360 infores:orphanet PMID:22460196|PMID:23342054 Assessed loss_of_function_variant_form uuid:97735cc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:81794 biolink:causes Orphanet:3449 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13201 infores:orphanet PMID:20301293 Assessed uuid:97735cc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:3449 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet PMID:20301293 Assessed uuid:97735cc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4053 biolink:causes Orphanet:3449 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6715 infores:orphanet PMID:20301293|PMID:22539340 Assessed uuid:97735cc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:170691 biolink:causes Orphanet:3449 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17109 infores:orphanet PMID:19836009 Assessed loss_of_function_variant_form uuid:97735cc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:55906 biolink:causes Orphanet:3454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24931 infores:orphanet PMID:23623388 Assessed uuid:97735cc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:440193 biolink:causes Orphanet:269510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19967 infores:orphanet PMID:21031079|PMID:23042809 Assessed uuid:97735cc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:124997 biolink:causes Orphanet:269510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26600 infores:orphanet PMID:28556411 Assessed uuid:97735cca-d8a7-11f1-ae73-e4fade41113c NCBIGene:11128 biolink:causes Orphanet:3455 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30074 infores:orphanet PMID:30323018 Assessed uuid:97735ccb-d8a7-11f1-ae73-e4fade41113c NCBIGene:8777 biolink:causes Orphanet:269505 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7208 infores:orphanet PMID:23240096 Assessed uuid:97735ccc-d8a7-11f1-ae73-e4fade41113c NCBIGene:124997 biolink:causes Orphanet:269505 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26600 infores:orphanet PMID:28556411 Assessed uuid:97735ccd-d8a7-11f1-ae73-e4fade41113c NCBIGene:131405 biolink:causes Orphanet:269505 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32669 infores:orphanet PMID:29983323 Assessed uuid:97735cce-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:1856 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:15316962|PMID:23545312 Assessed uuid:97735ccf-d8a7-11f1-ae73-e4fade41113c NCBIGene:1605 biolink:causes Orphanet:280333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2666 infores:orphanet PMID:14678799|PMID:21388311 Assessed uuid:97735cd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:23085 biolink:gene_associated_with_condition Orphanet:280325 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:17072 infores:orphanet PMID:22713806 Assessed uuid:97735cd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:9255 biolink:causes Orphanet:280293 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10648 infores:orphanet PMID:21092922 Assessed uuid:97735cd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3329 biolink:causes Orphanet:280288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5261 infores:orphanet PMID:18571143 Assessed uuid:97735cd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:280365 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:21346069 Assessed uuid:97735cd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2741 biolink:causes Orphanet:3197 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4326 infores:orphanet PMID:20301437 Assessed uuid:97735cd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2743 biolink:causes Orphanet:3197 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4329 infores:orphanet PMID:20301437 Assessed uuid:97735cd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10243 biolink:causes Orphanet:3197 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15465 infores:orphanet PMID:20301437 Assessed uuid:97735cd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:9152 biolink:causes Orphanet:3197 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11051 infores:orphanet PMID:20301437 Assessed uuid:97735cd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:84896 biolink:causes Orphanet:3197 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25903 infores:orphanet PMID:29390050 Assessed uuid:97735cd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2006 biolink:causes Orphanet:3193 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3327 infores:orphanet PMID:10942104|PMID:19844261 Assessed loss_of_function_variant_form uuid:97735cda-d8a7-11f1-ae73-e4fade41113c NCBIGene:5346 biolink:causes Orphanet:280356 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9076 infores:orphanet PMID:21345103 Assessed uuid:97735cdb-d8a7-11f1-ae73-e4fade41113c NCBIGene:51004 biolink:causes Orphanet:280406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20233 infores:orphanet PMID:21540551 Assessed uuid:97735cdc-d8a7-11f1-ae73-e4fade41113c NCBIGene:11160 biolink:causes Orphanet:280384 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1356 infores:orphanet PMID:21330303 Assessed uuid:97735cdd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5621 biolink:causes Orphanet:280397 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9449 infores:orphanet PMID:21416485 Assessed uuid:97735cde-d8a7-11f1-ae73-e4fade41113c NCBIGene:8815 biolink:causes Orphanet:280576 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17397 infores:orphanet PMID:21549337 Assessed uuid:97735cdf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5189 biolink:causes Orphanet:3220 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8850 infores:orphanet PMID:26387595 Assessed loss_of_function_variant_form uuid:97735ce0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5190 biolink:causes Orphanet:3220 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8859 infores:orphanet PMID:26387595 Assessed loss_of_function_variant_form uuid:97735ce1-d8a7-11f1-ae73-e4fade41113c NCBIGene:54928 biolink:causes Orphanet:280586 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26019 infores:orphanet PMID:21549340 Assessed uuid:97735ce2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1410 biolink:causes Orphanet:280553 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2389 infores:orphanet PMID:21337604 Assessed uuid:97735ce3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1663 biolink:causes Orphanet:280558 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2736 infores:orphanet PMID:23033317|PMID:20137776 Assessed uuid:97735ce4-d8a7-11f1-ae73-e4fade41113c NCBIGene:4683 biolink:causes Orphanet:647 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7652 infores:orphanet PMID:20301355 Assessed uuid:97735ce5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1441 biolink:causes Orphanet:279943 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2439 infores:orphanet PMID:19620628 Assessed uuid:97735ce6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1716 biolink:causes Orphanet:279934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2858 infores:orphanet PMID:20301766 Assessed uuid:97735ce7-d8a7-11f1-ae73-e4fade41113c NCBIGene:50964 biolink:causes Orphanet:3152 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13771 infores:orphanet PMID:20301406 Assessed loss_of_function_variant_form uuid:97735ce8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4038 biolink:causes Orphanet:3152 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6696 infores:orphanet PMID:21471202 Assessed uuid:97735ce9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3932 biolink:causes Orphanet:280142 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6524 infores:orphanet Assessed uuid:97735cea-d8a7-11f1-ae73-e4fade41113c NCBIGene:718 biolink:causes Orphanet:280133 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1318 infores:orphanet PMID:15781264 Assessed loss_of_function_variant_form uuid:97735ceb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5295 biolink:causes Orphanet:3163 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8979 infores:orphanet PMID:23810378|PMID:23810379|PMID:23810382 Assessed uuid:97735cec-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:causes Orphanet:1479 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2488 infores:orphanet PMID:19049681|PMID:18375255 Assessed uuid:97735ced-d8a7-11f1-ae73-e4fade41113c NCBIGene:80184 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29021 infores:orphanet PMID:22819833 Assessed uuid:97735cee-d8a7-11f1-ae73-e4fade41113c NCBIGene:27130 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17870 infores:orphanet PMID:16522655|PMID:22819833 Assessed uuid:97735cef-d8a7-11f1-ae73-e4fade41113c NCBIGene:9657 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28949 infores:orphanet PMID:22819833 Assessed uuid:97735cf0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4867 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7905 infores:orphanet PMID:22819833 Assessed uuid:97735cf1-d8a7-11f1-ae73-e4fade41113c NCBIGene:27031 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7907 infores:orphanet PMID:22819833 Assessed uuid:97735cf2-d8a7-11f1-ae73-e4fade41113c NCBIGene:261734 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19104 infores:orphanet PMID:22819833 Assessed uuid:97735cf3-d8a7-11f1-ae73-e4fade41113c NCBIGene:10806 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10671 infores:orphanet PMID:22819833 Assessed uuid:97735cf4-d8a7-11f1-ae73-e4fade41113c NCBIGene:57728 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18340 infores:orphanet PMID:23683095 Assessed uuid:97735cf5-d8a7-11f1-ae73-e4fade41113c NCBIGene:22897 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29182 infores:orphanet PMID:22863007 Assessed uuid:97735cf6-d8a7-11f1-ae73-e4fade41113c NCBIGene:26146 biolink:causes Orphanet:3156 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17861 infores:orphanet PMID:26487268 Assessed loss_of_function_variant_form uuid:97735cf7-d8a7-11f1-ae73-e4fade41113c NCBIGene:440138 biolink:causes Orphanet:280071 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32456 infores:orphanet PMID:20080937 Assessed uuid:97735cf8-d8a7-11f1-ae73-e4fade41113c NCBIGene:128674 biolink:causes Orphanet:3157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15836 infores:orphanet PMID:22319038 Assessed uuid:97735cf9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6657 biolink:causes Orphanet:3157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11195 infores:orphanet PMID:17587179|PMID:19623216|PMID:21396578|PMID:24802313 Assessed uuid:97735cfa-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:3157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3688 infores:orphanet PMID:22319038 Assessed uuid:97735cfb-d8a7-11f1-ae73-e4fade41113c NCBIGene:8820 biolink:causes Orphanet:3157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4877 infores:orphanet PMID:17587179|PMID:19623216|PMID:21396578|PMID:24802313 Assessed uuid:97735cfc-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:causes Orphanet:3157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8522 infores:orphanet PMID:21396578|PMID:24802313 Assessed uuid:97735cfd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6658 biolink:causes Orphanet:3157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11199 infores:orphanet PMID:17587179|PMID:21396578|PMID:24802313 Assessed uuid:97735cfe-d8a7-11f1-ae73-e4fade41113c NCBIGene:9915 biolink:causes Orphanet:3157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16876 infores:orphanet PMID:24022475 Assessed loss_of_function_variant_form uuid:97735cff-d8a7-11f1-ae73-e4fade41113c NCBIGene:5354 biolink:causes Orphanet:280210 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9086 infores:orphanet PMID:20301361 Assessed uuid:97735d00-d8a7-11f1-ae73-e4fade41113c NCBIGene:5354 biolink:causes Orphanet:280219 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9086 infores:orphanet PMID:20301361 Assessed uuid:97735d01-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9585 infores:orphanet Assessed uuid:97735d02-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet PMID:11471164 Assessed uuid:97735d03-d8a7-11f1-ae73-e4fade41113c NCBIGene:6496 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10889 infores:orphanet Assessed uuid:97735d04-d8a7-11f1-ae73-e4fade41113c NCBIGene:51684 biolink:gene_associated_with_condition Orphanet:280200 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16466 infores:orphanet PMID:27363716 Not yet assessed uuid:97735d05-d8a7-11f1-ae73-e4fade41113c NCBIGene:7050 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11776 infores:orphanet Assessed uuid:97735d06-d8a7-11f1-ae73-e4fade41113c NCBIGene:7546 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12873 infores:orphanet Assessed uuid:97735d07-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:gene_associated_with_condition Orphanet:280200 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3688 infores:orphanet PMID:27363716 Not yet assessed uuid:97735d08-d8a7-11f1-ae73-e4fade41113c NCBIGene:2736 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4318 infores:orphanet Assessed uuid:97735d09-d8a7-11f1-ae73-e4fade41113c NCBIGene:6997 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11701 infores:orphanet Assessed uuid:97735d0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8928 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3814 infores:orphanet Assessed uuid:97735d0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2253 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3686 infores:orphanet Assessed uuid:97735d0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84976 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19711 infores:orphanet Assessed uuid:97735d0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:50937 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17104 infores:orphanet Assessed uuid:97735d0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4838 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7865 infores:orphanet Assessed uuid:97735d0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:28514 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2908 infores:orphanet Assessed uuid:97735d10-d8a7-11f1-ae73-e4fade41113c NCBIGene:2619 biolink:causes Orphanet:280200 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4165 infores:orphanet Assessed uuid:97735d11-d8a7-11f1-ae73-e4fade41113c NCBIGene:170302 biolink:causes Orphanet:3175 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18060 infores:orphanet PMID:12177367 Assessed uuid:97735d12-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9585 infores:orphanet Assessed uuid:97735d13-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet Assessed uuid:97735d14-d8a7-11f1-ae73-e4fade41113c NCBIGene:6496 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10889 infores:orphanet Assessed uuid:97735d15-d8a7-11f1-ae73-e4fade41113c NCBIGene:7050 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11776 infores:orphanet Assessed uuid:97735d16-d8a7-11f1-ae73-e4fade41113c NCBIGene:7546 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12873 infores:orphanet Assessed uuid:97735d17-d8a7-11f1-ae73-e4fade41113c NCBIGene:2736 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4318 infores:orphanet Assessed uuid:97735d18-d8a7-11f1-ae73-e4fade41113c NCBIGene:6997 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11701 infores:orphanet Assessed uuid:97735d19-d8a7-11f1-ae73-e4fade41113c NCBIGene:8928 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3814 infores:orphanet Assessed uuid:97735d1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6491 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10879 infores:orphanet PMID:29785796 Assessed uuid:97735d1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2253 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3686 infores:orphanet Assessed uuid:97735d1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84976 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19711 infores:orphanet Assessed uuid:97735d1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:50937 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17104 infores:orphanet Assessed uuid:97735d1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4838 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7865 infores:orphanet Assessed uuid:97735d1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:28514 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2908 infores:orphanet Assessed uuid:97735d20-d8a7-11f1-ae73-e4fade41113c NCBIGene:2619 biolink:causes Orphanet:280195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4165 infores:orphanet Assessed uuid:97735d21-d8a7-11f1-ae73-e4fade41113c NCBIGene:51293 biolink:causes Orphanet:280183 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16692 infores:orphanet PMID:20524213 Assessed uuid:97735d22-d8a7-11f1-ae73-e4fade41113c NCBIGene:57165 biolink:causes Orphanet:280282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17494 infores:orphanet PMID:22669416|PMID:24374284 Assessed uuid:97735d23-d8a7-11f1-ae73-e4fade41113c NCBIGene:4118 biolink:causes Orphanet:280270 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6817 infores:orphanet PMID:35217805 Assessed uuid:97735d24-d8a7-11f1-ae73-e4fade41113c NCBIGene:5354 biolink:causes Orphanet:280234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9086 infores:orphanet PMID:20301361 Assessed uuid:97735d25-d8a7-11f1-ae73-e4fade41113c NCBIGene:54 biolink:causes Orphanet:1855 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:124 infores:orphanet PMID:21217755|PMID:21217752 Assessed uuid:97735d26-d8a7-11f1-ae73-e4fade41113c NCBIGene:5354 biolink:causes Orphanet:280224 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9086 infores:orphanet PMID:20301361 Assessed uuid:97735d27-d8a7-11f1-ae73-e4fade41113c NCBIGene:6911 biolink:causes Orphanet:1797 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11605 infores:orphanet PMID:23335591 Assessed uuid:97735d28-d8a7-11f1-ae73-e4fade41113c NCBIGene:5354 biolink:causes Orphanet:280229 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9086 infores:orphanet PMID:20301361 Assessed uuid:97735d29-d8a7-11f1-ae73-e4fade41113c NCBIGene:3767 biolink:causes Orphanet:276580 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6257 infores:orphanet PMID:18596924|PMID:25733449 Assessed uuid:97735d2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:324 biolink:causes Orphanet:3258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:583 infores:orphanet PMID:25676610 Assessed uuid:97735d2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4038 biolink:causes Orphanet:3258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6696 infores:orphanet PMID:20381006|PMID:23636941 Assessed loss_of_function_variant_form uuid:97735d2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6833 biolink:causes Orphanet:276575 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:59 infores:orphanet PMID:11018078|PMID:25733449 Assessed uuid:97735d2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6833 biolink:causes Orphanet:276598 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:59 infores:orphanet PMID:21967988 Assessed uuid:97735d2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3767 biolink:causes Orphanet:276603 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6257 infores:orphanet PMID:21967988 Assessed uuid:97735d2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:contributes_to Orphanet:276621 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9967 infores:orphanet PMID:12000816 Assessed uuid:97735d30-d8a7-11f1-ae73-e4fade41113c NCBIGene:6390 biolink:contributes_to Orphanet:276621 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10681 infores:orphanet PMID:12000816 Assessed uuid:97735d31-d8a7-11f1-ae73-e4fade41113c NCBIGene:6392 biolink:contributes_to Orphanet:276621 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10683 infores:orphanet PMID:12000816 Assessed uuid:97735d32-d8a7-11f1-ae73-e4fade41113c NCBIGene:7428 biolink:contributes_to Orphanet:276621 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12687 infores:orphanet PMID:12000816|PMID:27539324 Assessed uuid:97735d33-d8a7-11f1-ae73-e4fade41113c NCBIGene:2034 biolink:causes Orphanet:276621 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3374 infores:orphanet PMID:23418310 Assessed uuid:97735d34-d8a7-11f1-ae73-e4fade41113c NCBIGene:1788 biolink:causes Orphanet:276621 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2978 infores:orphanet PMID:29740169 Assessed gain_of_function_variant_form uuid:97735d35-d8a7-11f1-ae73-e4fade41113c NCBIGene:6197 biolink:causes Orphanet:276630 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10432 infores:orphanet PMID:20301520 Assessed uuid:97735d36-d8a7-11f1-ae73-e4fade41113c NCBIGene:2317 biolink:causes Orphanet:3275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3755 infores:orphanet PMID:20301736 Assessed loss_of_function_variant_form uuid:97735d37-d8a7-11f1-ae73-e4fade41113c NCBIGene:4621 biolink:causes Orphanet:3275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7573 infores:orphanet PMID:27381093 Assessed uuid:97735d38-d8a7-11f1-ae73-e4fade41113c NCBIGene:335 biolink:causes Orphanet:425 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:600 infores:orphanet PMID:8240372|PMID:8282791 Assessed uuid:97735d39-d8a7-11f1-ae73-e4fade41113c NCBIGene:19 biolink:causes Orphanet:425 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29 infores:orphanet PMID:15158913|PMID:22959828 Assessed uuid:97735d3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9496 biolink:causes Orphanet:3301 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11603 infores:orphanet PMID:31965066 Assessed uuid:97735d3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7473 biolink:causes Orphanet:3301 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12782 infores:orphanet PMID:14872406|PMID:20301453 Assessed loss_of_function_variant_form uuid:97735d3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:340419 biolink:causes Orphanet:3301 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28583 infores:orphanet PMID:29769720 Assessed uuid:97735d3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10528 biolink:causes Orphanet:276198 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15911 infores:orphanet Assessed uuid:97735d3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:343641 biolink:causes Orphanet:276193 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16255 infores:orphanet Assessed uuid:97735d3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4287 biolink:causes Orphanet:276238 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7106 infores:orphanet Assessed uuid:97735d40-d8a7-11f1-ae73-e4fade41113c NCBIGene:221264 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33814 infores:orphanet PMID:37713809 Assessed uuid:97735d41-d8a7-11f1-ae73-e4fade41113c NCBIGene:6756 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11335 infores:orphanet PMID:36796361 Assessed uuid:97735d42-d8a7-11f1-ae73-e4fade41113c NCBIGene:117144 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17116 infores:orphanet PMID:19344877 Assessed uuid:97735d43-d8a7-11f1-ae73-e4fade41113c NCBIGene:92749 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24245 infores:orphanet PMID:34169321 Assessed loss_of_function_variant_form uuid:97735d44-d8a7-11f1-ae73-e4fade41113c NCBIGene:116369 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14468 infores:orphanet PMID:23582645 Assessed uuid:97735d45-d8a7-11f1-ae73-e4fade41113c NCBIGene:124404 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26348 infores:orphanet PMID:22275165 Assessed uuid:97735d46-d8a7-11f1-ae73-e4fade41113c NCBIGene:25981 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2940 infores:orphanet PMID:24360805 Assessed uuid:97735d47-d8a7-11f1-ae73-e4fade41113c NCBIGene:144406 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28506 infores:orphanet PMID:30122540 Assessed uuid:97735d48-d8a7-11f1-ae73-e4fade41113c NCBIGene:80217 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26684 infores:orphanet PMID:28552195 Assessed loss_of_function_variant_form uuid:97735d49-d8a7-11f1-ae73-e4fade41113c NCBIGene:55779 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25631 infores:orphanet PMID:28552195 Assessed loss_of_function_variant_form uuid:97735d4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:200162 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26620 infores:orphanet PMID:28548327 Assessed uuid:97735d4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:122481 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20091 infores:orphanet PMID:29365104 Assessed uuid:97735d4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:79846 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26107 infores:orphanet PMID:29606301 Assessed uuid:97735d4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:401024 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21675 infores:orphanet PMID:30137358 Assessed uuid:97735d4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:84071 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23045 infores:orphanet PMID:30686508 Assessed uuid:97735d4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:199223 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30761 infores:orphanet PMID:30929735 Assessed uuid:97735d50-d8a7-11f1-ae73-e4fade41113c NCBIGene:79925 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26293 infores:orphanet PMID:31151990 Assessed loss_of_function_variant_form uuid:97735d51-d8a7-11f1-ae73-e4fade41113c NCBIGene:8632 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2946 infores:orphanet PMID:31178125 Assessed uuid:97735d52-d8a7-11f1-ae73-e4fade41113c NCBIGene:255101 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25325 infores:orphanet PMID:31413122 Assessed uuid:97735d53-d8a7-11f1-ae73-e4fade41113c NCBIGene:118491 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30726 infores:orphanet PMID:31621862 Assessed uuid:97735d54-d8a7-11f1-ae73-e4fade41113c NCBIGene:83894 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29936 infores:orphanet PMID:31735292|PMID:31735294 Assessed uuid:97735d55-d8a7-11f1-ae73-e4fade41113c NCBIGene:8852 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:374 infores:orphanet PMID:34415320 Assessed loss_of_function_variant_form uuid:97735d56-d8a7-11f1-ae73-e4fade41113c NCBIGene:284382 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28494 infores:orphanet PMID:33626338 Assessed uuid:97735d57-d8a7-11f1-ae73-e4fade41113c NCBIGene:83844 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13485 infores:orphanet PMID:34202084 Assessed uuid:97735d58-d8a7-11f1-ae73-e4fade41113c NCBIGene:64518 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14293 infores:orphanet PMID:36708031 Assessed uuid:97735d59-d8a7-11f1-ae73-e4fade41113c NCBIGene:7802 biolink:causes Orphanet:276234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14353 infores:orphanet PMID:36792588|PMID:36726469 Assessed uuid:97735d5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:411 biolink:causes Orphanet:276223 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:714 infores:orphanet Assessed uuid:97735d5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:411 biolink:causes Orphanet:276212 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:714 infores:orphanet Assessed uuid:97735d5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4287 biolink:causes Orphanet:276244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7106 infores:orphanet Assessed uuid:97735d5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4287 biolink:causes Orphanet:276241 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7106 infores:orphanet Assessed uuid:97735d5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:276280 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:24782230 Assessed uuid:97735d5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23405 biolink:contributes_to Orphanet:276399 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17098 infores:orphanet PMID:21205968 Assessed uuid:97735d60-d8a7-11f1-ae73-e4fade41113c NCBIGene:9817 biolink:causes Orphanet:276399 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23177 infores:orphanet PMID:23724128 Assessed uuid:97735d61-d8a7-11f1-ae73-e4fade41113c NCBIGene:6885 biolink:causes Orphanet:3238 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6859 infores:orphanet PMID:27426734 Assessed uuid:97735d62-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:3237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4220 infores:orphanet PMID:16532400 Assessed gain_of_function_variant_form uuid:97735d63-d8a7-11f1-ae73-e4fade41113c NCBIGene:9241 biolink:causes Orphanet:3237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7866 infores:orphanet PMID:20503332|PMID:25241334 Assessed uuid:97735d64-d8a7-11f1-ae73-e4fade41113c NCBIGene:2254 biolink:causes Orphanet:3237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3687 infores:orphanet PMID:19589401 Assessed uuid:97735d65-d8a7-11f1-ae73-e4fade41113c NCBIGene:392255 biolink:causes Orphanet:3237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4221 infores:orphanet PMID:29130651 Assessed uuid:97735d66-d8a7-11f1-ae73-e4fade41113c NCBIGene:644 biolink:causes Orphanet:276405 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1062 infores:orphanet PMID:21278388 Assessed uuid:97735d67-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:3250 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4220 infores:orphanet PMID:18283415|PMID:16892395 Assessed gain_of_function_variant_form uuid:97735d68-d8a7-11f1-ae73-e4fade41113c NCBIGene:9241 biolink:causes Orphanet:3250 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7866 infores:orphanet PMID:11846737|PMID:24326127 Assessed uuid:97735d69-d8a7-11f1-ae73-e4fade41113c NCBIGene:150468 biolink:causes Orphanet:3255 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26877 infores:orphanet PMID:25439729 Assessed loss_of_function_variant_form uuid:97735d6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7351 biolink:causes Orphanet:276556 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12518 infores:orphanet PMID:19065272|PMID:25733449 Assessed loss_of_function_variant_form uuid:97735d6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8260 biolink:causes Orphanet:276432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18704 infores:orphanet PMID:21700266 Assessed uuid:97735d6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5818 biolink:causes Orphanet:3253 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9706 infores:orphanet PMID:10932188 Assessed uuid:97735d6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:400916 biolink:causes Orphanet:276435 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15559 infores:orphanet PMID:25428574 Assessed uuid:97735d6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7535 biolink:causes Orphanet:911 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12858 infores:orphanet PMID:20301777 Assessed uuid:97735d6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3030 biolink:causes Orphanet:746 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4801 infores:orphanet Assessed uuid:97735d70-d8a7-11f1-ae73-e4fade41113c NCBIGene:3032 biolink:causes Orphanet:746 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4803 infores:orphanet Assessed uuid:97735d71-d8a7-11f1-ae73-e4fade41113c NCBIGene:23417 biolink:causes Orphanet:943 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7150 infores:orphanet PMID:24613099 Assessed uuid:97735d72-d8a7-11f1-ae73-e4fade41113c NCBIGene:1528 biolink:gene_associated_with_condition Orphanet:621 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2570 infores:orphanet Not yet assessed uuid:97735d73-d8a7-11f1-ae73-e4fade41113c NCBIGene:1727 biolink:causes Orphanet:621 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2873 infores:orphanet PMID:18820099|PMID:18202104 Assessed uuid:97735d74-d8a7-11f1-ae73-e4fade41113c NCBIGene:2998 biolink:causes Orphanet:2089 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4707 infores:orphanet Assessed uuid:97735d75-d8a7-11f1-ae73-e4fade41113c NCBIGene:348 biolink:contributes_to Orphanet:412 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:613 infores:orphanet PMID:24405372|PMID:21463987 Assessed uuid:97735d76-d8a7-11f1-ae73-e4fade41113c NCBIGene:5627 biolink:causes Orphanet:743 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9456 infores:orphanet PMID:17849042|PMID:19466456 Assessed uuid:97735d77-d8a7-11f1-ae73-e4fade41113c NCBIGene:7253 biolink:causes Orphanet:424 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12373 infores:orphanet PMID:24947036|PMID:23295291 Assessed uuid:97735d78-d8a7-11f1-ae73-e4fade41113c NCBIGene:2147 biolink:causes Orphanet:325 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3535 infores:orphanet PMID:25242243|PMID:23852823|PMID:20301327 Assessed uuid:97735d79-d8a7-11f1-ae73-e4fade41113c NCBIGene:4598 biolink:causes Orphanet:343 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7530 infores:orphanet PMID:11313769|PMID:10369262 Assessed uuid:97735d7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5993 biolink:causes Orphanet:572 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9986 infores:orphanet Assessed uuid:97735d7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8625 biolink:causes Orphanet:572 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9987 infores:orphanet Assessed uuid:97735d7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5994 biolink:causes Orphanet:572 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9988 infores:orphanet Assessed uuid:97735d7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4261 biolink:causes Orphanet:572 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7067 infores:orphanet Assessed uuid:97735d7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:81622 biolink:contributes_to Orphanet:1930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:13481 infores:orphanet PMID:16973841 Assessed uuid:97735d7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7098 biolink:contributes_to Orphanet:1930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11849 infores:orphanet PMID:17872438 Assessed uuid:97735d80-d8a7-11f1-ae73-e4fade41113c NCBIGene:148022 biolink:contributes_to Orphanet:1930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:18348 infores:orphanet PMID:22105173 Assessed uuid:97735d81-d8a7-11f1-ae73-e4fade41113c NCBIGene:7187 biolink:contributes_to Orphanet:1930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12033 infores:orphanet PMID:20832341 Assessed uuid:97735d82-d8a7-11f1-ae73-e4fade41113c NCBIGene:29110 biolink:contributes_to Orphanet:1930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11584 infores:orphanet PMID:22851595 Assessed uuid:97735d83-d8a7-11f1-ae73-e4fade41113c NCBIGene:6584 biolink:causes Orphanet:158 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10969 infores:orphanet PMID:22989098 Assessed uuid:97735d84-d8a7-11f1-ae73-e4fade41113c NCBIGene:3795 biolink:causes Orphanet:2056 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6315 infores:orphanet PMID:7833921|PMID:19237742 Assessed uuid:97735d85-d8a7-11f1-ae73-e4fade41113c NCBIGene:5660 biolink:causes Orphanet:206436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9498 infores:orphanet PMID:15773042|PMID:20301416 Assessed uuid:97735d86-d8a7-11f1-ae73-e4fade41113c NCBIGene:2581 biolink:causes Orphanet:206436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4115 infores:orphanet PMID:20301416|PMID:23319190 Assessed uuid:97735d87-d8a7-11f1-ae73-e4fade41113c NCBIGene:51816 biolink:causes Orphanet:820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1839 infores:orphanet PMID:25075847|PMID:25551694 Assessed loss_of_function_variant_form uuid:97735d88-d8a7-11f1-ae73-e4fade41113c NCBIGene:27286 biolink:gene_associated_with_condition Orphanet:1945 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:30668 infores:orphanet Not yet assessed uuid:97735d89-d8a7-11f1-ae73-e4fade41113c NCBIGene:2566 biolink:causes Orphanet:1945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4087 infores:orphanet PMID:25726841 Assessed uuid:97735d8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2903 biolink:causes Orphanet:1945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4585 infores:orphanet PMID:23933819 Assessed uuid:97735d8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5019 biolink:causes Orphanet:832 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8527 infores:orphanet PMID:23420214|PMID:21296660 Assessed uuid:97735d8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:56922 biolink:causes Orphanet:6 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6936 infores:orphanet PMID:22642865|PMID:22264772 Assessed uuid:97735d8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:64087 biolink:causes Orphanet:6 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6937 infores:orphanet PMID:22642865|PMID:22264772 Assessed uuid:97735d8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3155 biolink:causes Orphanet:20 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5005 infores:orphanet PMID:19177531 Assessed uuid:97735d8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:669 biolink:causes Orphanet:714 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1093 infores:orphanet PMID:15054810 Assessed uuid:97735d90-d8a7-11f1-ae73-e4fade41113c NCBIGene:2821 biolink:causes Orphanet:712 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4458 infores:orphanet PMID:9446754|PMID:22782259 Assessed uuid:97735d91-d8a7-11f1-ae73-e4fade41113c NCBIGene:1756 biolink:causes Orphanet:206546 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2928 infores:orphanet Assessed uuid:97735d92-d8a7-11f1-ae73-e4fade41113c NCBIGene:2218 biolink:causes Orphanet:206554 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3622 infores:orphanet PMID:20301582 Assessed uuid:97735d93-d8a7-11f1-ae73-e4fade41113c NCBIGene:203859 biolink:causes Orphanet:206549 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27337 infores:orphanet PMID:20301582 Assessed uuid:97735d94-d8a7-11f1-ae73-e4fade41113c NCBIGene:55624 biolink:causes Orphanet:206564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19139 infores:orphanet PMID:20301582|PMID:18195152 Assessed uuid:97735d95-d8a7-11f1-ae73-e4fade41113c NCBIGene:29954 biolink:causes Orphanet:206559 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19743 infores:orphanet PMID:20301582 Assessed uuid:97735d96-d8a7-11f1-ae73-e4fade41113c NCBIGene:57449 biolink:causes Orphanet:206580 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29105 infores:orphanet PMID:17564964 Assessed uuid:97735d97-d8a7-11f1-ae73-e4fade41113c NCBIGene:2581 biolink:causes Orphanet:206443 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4115 infores:orphanet PMID:20301416|PMID:23319190 Assessed uuid:97735d98-d8a7-11f1-ae73-e4fade41113c NCBIGene:2581 biolink:causes Orphanet:206448 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4115 infores:orphanet PMID:20301416|PMID:23319190 Assessed uuid:97735d99-d8a7-11f1-ae73-e4fade41113c NCBIGene:8506 biolink:causes Orphanet:2680 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8011 infores:orphanet PMID:24319099 Assessed uuid:97735d9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:112 biolink:causes Orphanet:2680 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:237 infores:orphanet PMID:24319099 Assessed uuid:97735d9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:163175 biolink:causes Orphanet:2680 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18712 infores:orphanet PMID:28318499 Assessed loss_of_function_variant_form uuid:97735d9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2690 biolink:causes Orphanet:633 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4263 infores:orphanet PMID:18406284|PMID:24664892 Assessed uuid:97735d9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:60675 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18455 infores:orphanet PMID:18682503 Assessed loss_of_function_variant_form uuid:97735d9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:128674 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15836 infores:orphanet PMID:18682503 Assessed loss_of_function_variant_form uuid:97735d9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55636 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20626 infores:orphanet PMID:18834967 Assessed uuid:97735da0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6663 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11190 infores:orphanet PMID:23643381 Assessed loss_of_function_variant_form uuid:97735da1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3688 infores:orphanet PMID:17235395 Assessed loss_of_function_variant_form uuid:97735da2-d8a7-11f1-ae73-e4fade41113c NCBIGene:8820 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4877 infores:orphanet PMID:23465708 Assessed uuid:97735da3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3730 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6211 infores:orphanet PMID:21168128 Assessed loss_of_function_variant_form uuid:97735da4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2253 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3686 infores:orphanet PMID:18596921|PMID:20463092 Assessed loss_of_function_variant_form uuid:97735da5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6870 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11528 infores:orphanet PMID:23643382|PMID:19079066 Assessed uuid:97735da6-d8a7-11f1-ae73-e4fade41113c NCBIGene:55717 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13831 infores:orphanet PMID:20887964 Assessed uuid:97735da7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1630 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2701 infores:orphanet PMID:29202173 Assessed loss_of_function_variant_form uuid:97735da8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9394 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5201 infores:orphanet PMID:21700882|PMID:23997646 Assessed loss_of_function_variant_form uuid:97735da9-d8a7-11f1-ae73-e4fade41113c NCBIGene:10371 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10723 infores:orphanet PMID:22416012 Assessed loss_of_function_variant_form uuid:97735daa-d8a7-11f1-ae73-e4fade41113c NCBIGene:54756 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17616 infores:orphanet PMID:23643382 Assessed uuid:97735dab-d8a7-11f1-ae73-e4fade41113c NCBIGene:8822 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3673 infores:orphanet PMID:23643382 Assessed uuid:97735dac-d8a7-11f1-ae73-e4fade41113c NCBIGene:1848 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3072 infores:orphanet PMID:23643382 Assessed uuid:97735dad-d8a7-11f1-ae73-e4fade41113c NCBIGene:81848 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15533 infores:orphanet PMID:23643382 Assessed uuid:97735dae-d8a7-11f1-ae73-e4fade41113c NCBIGene:23767 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3762 infores:orphanet PMID:23643382 Assessed uuid:97735daf-d8a7-11f1-ae73-e4fade41113c NCBIGene:389549 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:22788 infores:orphanet PMID:25192046 Assessed loss_of_function_variant_form uuid:97735db0-d8a7-11f1-ae73-e4fade41113c NCBIGene:285025 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26821 infores:orphanet PMID:28324054 Assessed uuid:97735db1-d8a7-11f1-ae73-e4fade41113c NCBIGene:285025 biolink:contributes_to Orphanet:478 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:26821 infores:orphanet PMID:28324054 Assessed uuid:97735db2-d8a7-11f1-ae73-e4fade41113c NCBIGene:79625 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26256 infores:orphanet PMID:31883645 Assessed uuid:97735db3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2018 biolink:causes Orphanet:478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3341 infores:orphanet PMID:41765865 Assessed uuid:97735db4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6521 biolink:causes Orphanet:822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11027 infores:orphanet PMID:23664421 Assessed uuid:97735db5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6708 biolink:causes Orphanet:822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11272 infores:orphanet PMID:23664421 Assessed uuid:97735db6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6710 biolink:causes Orphanet:822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11274 infores:orphanet PMID:23664421 Assessed uuid:97735db7-d8a7-11f1-ae73-e4fade41113c NCBIGene:286 biolink:causes Orphanet:822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:492 infores:orphanet PMID:23664421 Assessed uuid:97735db8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2038 biolink:causes Orphanet:822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3381 infores:orphanet PMID:23664421 Assessed uuid:97735db9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7507 biolink:causes Orphanet:910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12814 infores:orphanet PMID:20301571 Assessed uuid:97735dba-d8a7-11f1-ae73-e4fade41113c NCBIGene:7508 biolink:causes Orphanet:910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12816 infores:orphanet PMID:20301571 Assessed uuid:97735dbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1643 biolink:causes Orphanet:910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2718 infores:orphanet PMID:20301571 Assessed uuid:97735dbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2068 biolink:causes Orphanet:910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3434 infores:orphanet PMID:20301571 Assessed uuid:97735dbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2072 biolink:causes Orphanet:910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3436 infores:orphanet PMID:20301571 Assessed uuid:97735dbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:2071 biolink:causes Orphanet:910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3435 infores:orphanet PMID:20301571 Assessed uuid:97735dbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2073 biolink:causes Orphanet:910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3437 infores:orphanet PMID:20301571 Assessed uuid:97735dc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4629 biolink:gene_associated_with_condition Orphanet:229 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7569 infores:orphanet Not yet assessed uuid:97735dc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2182 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3571 infores:orphanet PMID:11889465 Assessed uuid:97735dc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6197 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10432 infores:orphanet PMID:17100996 Assessed uuid:97735dc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1756 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2928 infores:orphanet PMID:23900271 Assessed uuid:97735dc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:170302 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18060 infores:orphanet PMID:15850492 Assessed uuid:97735dc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:24140 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13254 infores:orphanet PMID:18081026 Assessed loss_of_function_variant_form uuid:97735dc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2664 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4226 infores:orphanet PMID:22002931 Assessed uuid:97735dc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4204 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6990 infores:orphanet PMID:11309367 Assessed uuid:97735dc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9968 biolink:gene_associated_with_condition Orphanet:777 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11957 infores:orphanet Not yet assessed uuid:97735dc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:65109 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20439 infores:orphanet PMID:17704778|PMID:19238151 Assessed uuid:97735dca-d8a7-11f1-ae73-e4fade41113c NCBIGene:186 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:338 infores:orphanet PMID:14598163 Assessed uuid:97735dcb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1741 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2902 infores:orphanet PMID:15185169 Assessed uuid:97735dcc-d8a7-11f1-ae73-e4fade41113c NCBIGene:11141 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5996 infores:orphanet PMID:16470793|PMID:19012350 Assessed uuid:97735dcd-d8a7-11f1-ae73-e4fade41113c NCBIGene:8573 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1497 infores:orphanet PMID:25886057|PMID:24278995 Assessed uuid:97735dce-d8a7-11f1-ae73-e4fade41113c NCBIGene:7102 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11854 infores:orphanet PMID:10655063|PMID:12070254 Assessed uuid:97735dcf-d8a7-11f1-ae73-e4fade41113c NCBIGene:9459 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:685 infores:orphanet PMID:11017088 Assessed uuid:97735dd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:347344 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13156 infores:orphanet PMID:15121780 Assessed uuid:97735dd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:116442 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16499 infores:orphanet PMID:20159109 Assessed loss_of_function_variant_form uuid:97735dd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6855 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11506 infores:orphanet PMID:19377476 Assessed uuid:97735dd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7552 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13128 infores:orphanet PMID:19377476 Assessed uuid:97735dd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3054 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4839 infores:orphanet PMID:23000143 Assessed uuid:97735dd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:79868 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30881 infores:orphanet PMID:24501762 Assessed uuid:97735dd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:11043 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7096 infores:orphanet PMID:24115387 Assessed uuid:97735dd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:139411 biolink:gene_associated_with_condition Orphanet:777 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:26392 infores:orphanet PMID:20844286|PMID:21091464 Not yet assessed uuid:97735dd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8239 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12632 infores:orphanet PMID:24607389 Assessed loss_of_function_variant_form uuid:97735dd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:22866 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19701 infores:orphanet PMID:25644381 Assessed uuid:97735dda-d8a7-11f1-ae73-e4fade41113c NCBIGene:1183 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2022 infores:orphanet PMID:25644381 Assessed uuid:97735ddb-d8a7-11f1-ae73-e4fade41113c NCBIGene:9758 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29007 infores:orphanet PMID:25644381 Assessed uuid:97735ddc-d8a7-11f1-ae73-e4fade41113c NCBIGene:389856 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13486 infores:orphanet PMID:25644381 Assessed uuid:97735ddd-d8a7-11f1-ae73-e4fade41113c NCBIGene:84679 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17123 infores:orphanet PMID:30335141 Assessed uuid:97735dde-d8a7-11f1-ae73-e4fade41113c NCBIGene:63932 biolink:causes Orphanet:777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26239 infores:orphanet PMID:29374277 Assessed uuid:97735ddf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5313 biolink:causes Orphanet:766 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9020 infores:orphanet PMID:15953013|PMID:16704447 Assessed uuid:97735de0-d8a7-11f1-ae73-e4fade41113c NCBIGene:859 biolink:causes Orphanet:206599 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1529 infores:orphanet PMID:10746614 Assessed uuid:97735de1-d8a7-11f1-ae73-e4fade41113c NCBIGene:203859 biolink:causes Orphanet:206599 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27337 infores:orphanet PMID:31517061|PMID:22402862 Assessed uuid:97735de2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1605 biolink:causes Orphanet:206599 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2666 infores:orphanet PMID:38177406 Assessed uuid:97735de3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3977 biolink:causes Orphanet:3206 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6597 infores:orphanet PMID:24618404 Assessed loss_of_function_variant_form uuid:97735de4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2632 biolink:causes Orphanet:206583 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4180 infores:orphanet PMID:10762170 Assessed uuid:97735de5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:23847139 Assessed uuid:97735de6-d8a7-11f1-ae73-e4fade41113c NCBIGene:343035 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19689 infores:orphanet PMID:17186464|PMID:25685757|PMID:20301475 Assessed uuid:97735de7-d8a7-11f1-ae73-e4fade41113c NCBIGene:145226 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19977 infores:orphanet PMID:15322982|PMID:25685757|PMID:20301475 Assessed loss_of_function_variant_form uuid:97735de8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6121 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10294 infores:orphanet PMID:25495949|PMID:25685757|PMID:20301475 Assessed uuid:97735de9-d8a7-11f1-ae73-e4fade41113c NCBIGene:57096 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13436 infores:orphanet PMID:11528500|PMID:25685757|PMID:20301475 Assessed loss_of_function_variant_form uuid:97735dea-d8a7-11f1-ae73-e4fade41113c NCBIGene:57010 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1386 infores:orphanet PMID:26061163 Assessed uuid:97735deb-d8a7-11f1-ae73-e4fade41113c NCBIGene:80184 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29021 infores:orphanet PMID:25685757|PMID:20301475 Assessed uuid:97735dec-d8a7-11f1-ae73-e4fade41113c NCBIGene:23746 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:359 infores:orphanet PMID:25685757|PMID:20301475 Assessed uuid:97735ded-d8a7-11f1-ae73-e4fade41113c NCBIGene:7840 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:428 infores:orphanet PMID:26061163 Assessed uuid:97735dee-d8a7-11f1-ae73-e4fade41113c NCBIGene:7287 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12423 infores:orphanet PMID:17962469|PMID:25685757|PMID:20301475 Assessed uuid:97735def-d8a7-11f1-ae73-e4fade41113c NCBIGene:23418 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2343 infores:orphanet PMID:25685757|PMID:20301475 Assessed uuid:97735df0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1406 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2383 infores:orphanet PMID:9931337|PMID:25685757|PMID:20301475 Assessed uuid:97735df1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3000 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4689 infores:orphanet PMID:25685757|PMID:20301475 Assessed loss_of_function_variant_form uuid:97735df2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3614 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6052 infores:orphanet PMID:16384941|PMID:25685757|PMID:20301475 Assessed uuid:97735df3-d8a7-11f1-ae73-e4fade41113c NCBIGene:9657 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28949 infores:orphanet PMID:20881296|PMID:21901789 Assessed loss_of_function_variant_form uuid:97735df4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8522 infores:orphanet PMID:40294858 Assessed uuid:97735df5-d8a7-11f1-ae73-e4fade41113c NCBIGene:167691 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31923 infores:orphanet PMID:17546029|PMID:25685757|PMID:20301475 Assessed uuid:97735df6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3769 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6259 infores:orphanet PMID:21763485|PMID:25685757|PMID:20301475 Assessed uuid:97735df7-d8a7-11f1-ae73-e4fade41113c NCBIGene:9227 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6685 infores:orphanet PMID:17011878|PMID:25685757|PMID:20301475 Assessed uuid:97735df8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55812 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20423 infores:orphanet PMID:19268277|PMID:25685757|PMID:20301475 Assessed uuid:97735df9-d8a7-11f1-ae73-e4fade41113c NCBIGene:392255 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4221 infores:orphanet PMID:23307924|PMID:25685757 Assessed uuid:97735dfa-d8a7-11f1-ae73-e4fade41113c NCBIGene:9742 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29077 infores:orphanet PMID:26216056 Assessed uuid:97735dfb-d8a7-11f1-ae73-e4fade41113c NCBIGene:64802 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17877 infores:orphanet PMID:22842227|PMID:25685757|PMID:20301475 Assessed uuid:97735dfc-d8a7-11f1-ae73-e4fade41113c NCBIGene:5130 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8754 infores:orphanet PMID:28272537 Assessed loss_of_function_variant_form uuid:97735dfd-d8a7-11f1-ae73-e4fade41113c NCBIGene:85015 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20080 infores:orphanet PMID:30573563 Assessed uuid:97735dfe-d8a7-11f1-ae73-e4fade41113c NCBIGene:10383 biolink:causes Orphanet:65 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20771 infores:orphanet PMID:35240325 Assessed uuid:97735dff-d8a7-11f1-ae73-e4fade41113c NCBIGene:2131 biolink:causes Orphanet:321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3512 infores:orphanet PMID:20301413 Assessed uuid:97735e00-d8a7-11f1-ae73-e4fade41113c NCBIGene:2132 biolink:causes Orphanet:321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3513 infores:orphanet PMID:20301413 Assessed loss_of_function_variant_form uuid:97735e01-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:gene_associated_with_condition Orphanet:144 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:8975 infores:orphanet PMID:19731079 Assessed uuid:97735e02-d8a7-11f1-ae73-e4fade41113c NCBIGene:5378 biolink:gene_associated_with_condition Orphanet:144 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9121 infores:orphanet Not yet assessed uuid:97735e03-d8a7-11f1-ae73-e4fade41113c NCBIGene:5395 biolink:causes Orphanet:144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9122 infores:orphanet PMID:18602922|PMID:20301390 Assessed uuid:97735e04-d8a7-11f1-ae73-e4fade41113c NCBIGene:7048 biolink:gene_associated_with_condition Orphanet:144 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11773 infores:orphanet Not yet assessed uuid:97735e05-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:gene_associated_with_condition Orphanet:144 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:6407 infores:orphanet PMID:19731079 Assessed uuid:97735e06-d8a7-11f1-ae73-e4fade41113c NCBIGene:4292 biolink:causes Orphanet:144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7127 infores:orphanet PMID:23100212|PMID:26149658|PMID:20301390 Assessed uuid:97735e07-d8a7-11f1-ae73-e4fade41113c NCBIGene:4436 biolink:causes Orphanet:144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7325 infores:orphanet PMID:22234272|PMID:26076155|PMID:20301390 Assessed uuid:97735e08-d8a7-11f1-ae73-e4fade41113c NCBIGene:2956 biolink:causes Orphanet:144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7329 infores:orphanet PMID:25318681|PMID:20301390 Assessed uuid:97735e09-d8a7-11f1-ae73-e4fade41113c NCBIGene:4072 biolink:causes Orphanet:144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11529 infores:orphanet PMID:21769135|PMID:23938213|PMID:20301390 Assessed uuid:97735e0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:582 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:966 infores:orphanet PMID:20301537 Assessed uuid:97735e0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79738 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26291 infores:orphanet PMID:23219996|PMID:23403234|PMID:20301537 Assessed uuid:97735e0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:583 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:967 infores:orphanet PMID:20301537 Assessed uuid:97735e0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:585 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:969 infores:orphanet PMID:20301537 Assessed uuid:97735e0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:129880 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:970 infores:orphanet PMID:20301537 Assessed uuid:97735e0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55212 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18758 infores:orphanet PMID:20301537 Assessed uuid:97735e10-d8a7-11f1-ae73-e4fade41113c NCBIGene:27241 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30000 infores:orphanet PMID:20301537 Assessed uuid:97735e11-d8a7-11f1-ae73-e4fade41113c NCBIGene:80184 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29021 infores:orphanet PMID:20301537 Assessed uuid:97735e12-d8a7-11f1-ae73-e4fade41113c NCBIGene:22954 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16380 infores:orphanet PMID:20301537 Assessed uuid:97735e13-d8a7-11f1-ae73-e4fade41113c NCBIGene:123016 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20087 infores:orphanet PMID:20301537 Assessed uuid:97735e14-d8a7-11f1-ae73-e4fade41113c NCBIGene:84100 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13210 infores:orphanet PMID:20301537 Assessed uuid:97735e15-d8a7-11f1-ae73-e4fade41113c NCBIGene:8195 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7108 infores:orphanet PMID:20301537 Assessed uuid:97735e16-d8a7-11f1-ae73-e4fade41113c NCBIGene:54903 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7121 infores:orphanet PMID:18327255|PMID:20301537 Assessed uuid:97735e17-d8a7-11f1-ae73-e4fade41113c NCBIGene:4867 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7905 infores:orphanet PMID:24746959 Assessed loss_of_function_variant_form uuid:97735e18-d8a7-11f1-ae73-e4fade41113c NCBIGene:166379 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26648 infores:orphanet PMID:20301537 Assessed uuid:97735e19-d8a7-11f1-ae73-e4fade41113c NCBIGene:10806 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10671 infores:orphanet PMID:20835237|PMID:20301537 Assessed loss_of_function_variant_form uuid:97735e1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:51057 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28027 infores:orphanet PMID:20301537 Assessed uuid:97735e1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:157657 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:27232 infores:orphanet PMID:27008867 Assessed loss_of_function_variant_form uuid:97735e1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:54585 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6741 infores:orphanet PMID:22510444|PMID:20301537 Assessed uuid:97735e1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:26160 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30391 infores:orphanet PMID:25168386 Assessed uuid:97735e1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:92482 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28093 infores:orphanet PMID:24026985|PMID:20301537 Assessed uuid:97735e1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:84984 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28209 infores:orphanet PMID:29127258 Assessed loss_of_function_variant_form uuid:97735e20-d8a7-11f1-ae73-e4fade41113c NCBIGene:11020 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18626 infores:orphanet PMID:24488770 Assessed loss_of_function_variant_form uuid:97735e21-d8a7-11f1-ae73-e4fade41113c NCBIGene:80173 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21424 infores:orphanet PMID:27486776 Assessed loss_of_function_variant_form uuid:97735e22-d8a7-11f1-ae73-e4fade41113c NCBIGene:132320 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26406 infores:orphanet PMID:32253632 Assessed uuid:97735e23-d8a7-11f1-ae73-e4fade41113c NCBIGene:49855 biolink:causes Orphanet:110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13081 infores:orphanet PMID:30723319 Assessed loss_of_function_variant_form uuid:97735e24-d8a7-11f1-ae73-e4fade41113c NCBIGene:6792 biolink:causes Orphanet:3095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11411 infores:orphanet PMID:22196487|PMID:22787626 Assessed uuid:97735e25-d8a7-11f1-ae73-e4fade41113c NCBIGene:8243 biolink:causes Orphanet:3095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11111 infores:orphanet PMID:32222533 Assessed uuid:97735e26-d8a7-11f1-ae73-e4fade41113c NCBIGene:4204 biolink:causes Orphanet:3095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6990 infores:orphanet PMID:20301670 Assessed uuid:97735e27-d8a7-11f1-ae73-e4fade41113c NCBIGene:22854 biolink:causes Orphanet:3095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23319 infores:orphanet PMID:17903671 Assessed uuid:97735e28-d8a7-11f1-ae73-e4fade41113c NCBIGene:9568 biolink:causes Orphanet:3095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4507 infores:orphanet PMID:28856709 Assessed uuid:97735e29-d8a7-11f1-ae73-e4fade41113c NCBIGene:5339 biolink:causes Orphanet:1114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9069 infores:orphanet PMID:31184804 Assessed uuid:97735e2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3691 biolink:causes Orphanet:1114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6158 infores:orphanet PMID:31184804 Assessed uuid:97735e2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9790 biolink:causes Orphanet:1114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23505 infores:orphanet PMID:23785305 Assessed uuid:97735e2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:54567 biolink:causes Orphanet:1114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2910 infores:orphanet PMID:26299364 Assessed loss_of_function_variant_form uuid:97735e2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10054 biolink:causes Orphanet:1114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30661 infores:orphanet PMID:32758660 Assessed uuid:97735e2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4094 biolink:causes Orphanet:1272 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6776 infores:orphanet PMID:25865493|PMID:8867660|PMID:8834052 Assessed uuid:97735e2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3708 biolink:causes Orphanet:208513 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6180 infores:orphanet PMID:22986007 Assessed uuid:97735e30-d8a7-11f1-ae73-e4fade41113c NCBIGene:6595 biolink:causes Orphanet:3051 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11098 infores:orphanet PMID:22366787 Assessed uuid:97735e31-d8a7-11f1-ae73-e4fade41113c NCBIGene:2902 biolink:causes Orphanet:208447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4584 infores:orphanet PMID:29365063 Assessed uuid:97735e32-d8a7-11f1-ae73-e4fade41113c NCBIGene:9896 biolink:causes Orphanet:208441 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16873 infores:orphanet PMID:24598713 Assessed loss_of_function_variant_form uuid:97735e33-d8a7-11f1-ae73-e4fade41113c NCBIGene:29957 biolink:causes Orphanet:2963 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20662 infores:orphanet PMID:29100094 Assessed uuid:97735e34-d8a7-11f1-ae73-e4fade41113c NCBIGene:4488 biolink:causes Orphanet:1541 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7392 infores:orphanet PMID:23918290|PMID:23949913 Assessed uuid:97735e35-d8a7-11f1-ae73-e4fade41113c NCBIGene:9968 biolink:causes Orphanet:1415 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11957 infores:orphanet PMID:33244166|PMID:35385210 Assessed loss_of_function_variant_form uuid:97735e36-d8a7-11f1-ae73-e4fade41113c NCBIGene:8929 biolink:contributes_to Orphanet:2151 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9143 infores:orphanet PMID:15024693|PMID:26011159|PMID:28371199 Assessed uuid:97735e37-d8a7-11f1-ae73-e4fade41113c NCBIGene:9217 biolink:causes Orphanet:209335 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12649 infores:orphanet PMID:15372378|PMID:24212516 Assessed uuid:97735e38-d8a7-11f1-ae73-e4fade41113c NCBIGene:1778 biolink:causes Orphanet:209341 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2961 infores:orphanet PMID:22459677 Assessed uuid:97735e39-d8a7-11f1-ae73-e4fade41113c NCBIGene:1186 biolink:causes Orphanet:210110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2025 infores:orphanet PMID:12522560|PMID:20301306 Assessed uuid:97735e3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10312 biolink:causes Orphanet:210110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11647 infores:orphanet PMID:24535816|PMID:25829125 Assessed uuid:97735e3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9842 biolink:causes Orphanet:210110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29017 infores:orphanet PMID:17404618 Assessed uuid:97735e3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3557 biolink:causes Orphanet:210115 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6000 infores:orphanet PMID:19494218 Assessed uuid:97735e3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:164656 biolink:causes Orphanet:209981 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16517 infores:orphanet PMID:19357398|PMID:20232450|PMID:25252070 Assessed loss_of_function_variant_form uuid:97735e3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2294 biolink:causes Orphanet:210122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3809 infores:orphanet PMID:19500772|PMID:23505205 Assessed uuid:97735e3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:131669 biolink:causes Orphanet:210128 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26444 infores:orphanet PMID:19304569 Assessed uuid:97735e40-d8a7-11f1-ae73-e4fade41113c NCBIGene:7443 biolink:causes Orphanet:2254 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12718 infores:orphanet PMID:19646678 Assessed uuid:97735e41-d8a7-11f1-ae73-e4fade41113c NCBIGene:51010 biolink:causes Orphanet:2254 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17944 infores:orphanet PMID:22544365|PMID:25144110 Assessed uuid:97735e42-d8a7-11f1-ae73-e4fade41113c NCBIGene:11340 biolink:causes Orphanet:2254 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17035 infores:orphanet PMID:24989451 Assessed uuid:97735e43-d8a7-11f1-ae73-e4fade41113c NCBIGene:91137 biolink:causes Orphanet:2254 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25198 infores:orphanet PMID:28637197 Assessed loss_of_function_variant_form uuid:97735e44-d8a7-11f1-ae73-e4fade41113c NCBIGene:5393 biolink:causes Orphanet:2254 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9137 infores:orphanet PMID:29727687 Assessed uuid:97735e45-d8a7-11f1-ae73-e4fade41113c NCBIGene:23287 biolink:causes Orphanet:2254 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17258 infores:orphanet PMID:30976113 Assessed uuid:97735e46-d8a7-11f1-ae73-e4fade41113c NCBIGene:11160 biolink:causes Orphanet:209951 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1356 infores:orphanet PMID:21330303 Assessed uuid:97735e47-d8a7-11f1-ae73-e4fade41113c NCBIGene:6507 biolink:causes Orphanet:209967 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10941 infores:orphanet PMID:19139306 Assessed uuid:97735e48-d8a7-11f1-ae73-e4fade41113c NCBIGene:93986 biolink:causes Orphanet:209908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13875 infores:orphanet PMID:11586359|PMID:15877281 Assessed uuid:97735e49-d8a7-11f1-ae73-e4fade41113c NCBIGene:7080 biolink:causes Orphanet:209905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11825 infores:orphanet PMID:24129101|PMID:24555207 Assessed uuid:97735e4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1581 biolink:causes Orphanet:209902 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2651 infores:orphanet PMID:12093894 Assessed uuid:97735e4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:169522 biolink:causes Orphanet:209932 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19698 infores:orphanet PMID:16909397|PMID:18235024|PMID:18400204 Assessed uuid:97735e4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10342 biolink:gene_associated_with_condition Orphanet:209916 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11758 infores:orphanet PMID:22581839 Assessed uuid:97735e4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2130 biolink:gene_associated_with_condition Orphanet:209916 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3508 infores:orphanet PMID:18855877 Assessed uuid:97735e4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6938 biolink:gene_associated_with_condition Orphanet:209916 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11623 infores:orphanet PMID:11156374 Assessed uuid:97735e4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8013 biolink:gene_associated_with_condition Orphanet:209916 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7982 infores:orphanet PMID:18855877 Assessed uuid:97735e50-d8a7-11f1-ae73-e4fade41113c NCBIGene:8148 biolink:gene_associated_with_condition Orphanet:209916 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11547 infores:orphanet PMID:18330903 Assessed uuid:97735e51-d8a7-11f1-ae73-e4fade41113c NCBIGene:4204 biolink:causes Orphanet:209370 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6990 infores:orphanet PMID:18477000|PMID:20301670 Assessed loss_of_function_variant_form uuid:97735e52-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:209867 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:15671297 Assessed uuid:97735e53-d8a7-11f1-ae73-e4fade41113c NCBIGene:8575 biolink:causes Orphanet:210571 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9438 infores:orphanet PMID:18243799 Assessed uuid:97735e54-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:210548 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9588 infores:orphanet PMID:15805158|PMID:17286265|PMID:19265751 Assessed uuid:97735e55-d8a7-11f1-ae73-e4fade41113c NCBIGene:220296 biolink:causes Orphanet:210548 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26361 infores:orphanet PMID:21419380 Assessed uuid:97735e56-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:210159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:15608678 Assessed uuid:97735e57-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:gene_associated_with_condition Orphanet:210159 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11998 infores:orphanet PMID:8191284 Not yet assessed uuid:97735e58-d8a7-11f1-ae73-e4fade41113c NCBIGene:7248 biolink:gene_associated_with_condition Orphanet:210159 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12362 infores:orphanet PMID:27974549 Assessed uuid:97735e59-d8a7-11f1-ae73-e4fade41113c NCBIGene:7249 biolink:gene_associated_with_condition Orphanet:210159 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12363 infores:orphanet PMID:27974549 Assessed uuid:97735e5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:gene_associated_with_condition Orphanet:210159 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2514 infores:orphanet PMID:10435629 Not yet assessed uuid:97735e5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:841 biolink:causes Orphanet:210159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1509 infores:orphanet PMID:15531912 Assessed uuid:97735e5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1950 biolink:contributes_to Orphanet:210159 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3229 infores:orphanet PMID:21440548 Assessed uuid:97735e5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8312 biolink:causes Orphanet:210159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:903 infores:orphanet PMID:10700176 Assessed uuid:97735e5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5157 biolink:gene_associated_with_condition Orphanet:210159 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:8805 infores:orphanet PMID:7898930|PMID:12653892 Not yet assessed uuid:97735e5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1272 biolink:causes Orphanet:210163 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2171 infores:orphanet PMID:19026398 Assessed uuid:97735e60-d8a7-11f1-ae73-e4fade41113c NCBIGene:3735 biolink:causes Orphanet:3240 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6215 infores:orphanet PMID:28887846 Assessed uuid:97735e61-d8a7-11f1-ae73-e4fade41113c NCBIGene:23189 biolink:causes Orphanet:210141 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19309 infores:orphanet PMID:16301218 Assessed uuid:97735e62-d8a7-11f1-ae73-e4fade41113c NCBIGene:2571 biolink:causes Orphanet:210141 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4092 infores:orphanet PMID:15571623 Assessed uuid:97735e63-d8a7-11f1-ae73-e4fade41113c NCBIGene:120 biolink:causes Orphanet:210141 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:245 infores:orphanet PMID:23836506 Assessed loss_of_function_variant_form uuid:97735e64-d8a7-11f1-ae73-e4fade41113c NCBIGene:79068 biolink:causes Orphanet:210144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24678 infores:orphanet PMID:19559399 Assessed loss_of_function_variant_form uuid:97735e65-d8a7-11f1-ae73-e4fade41113c NCBIGene:9630 biolink:causes Orphanet:1063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4382 infores:orphanet PMID:27476652 Assessed uuid:97735e66-d8a7-11f1-ae73-e4fade41113c NCBIGene:785 biolink:causes Orphanet:211067 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1404 infores:orphanet PMID:10762541 Assessed uuid:97735e67-d8a7-11f1-ae73-e4fade41113c NCBIGene:81 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:166 infores:orphanet PMID:10700177 Assessed uuid:97735e68-d8a7-11f1-ae73-e4fade41113c NCBIGene:7225 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:12338 infores:orphanet PMID:15879175|PMID:15924139 Assessed gain_of_function_variant_form uuid:97735e69-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12796 infores:orphanet PMID:20150449 Assessed uuid:97735e6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1285 biolink:contributes_to Orphanet:656 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:2204 infores:orphanet PMID:25407002 Assessed uuid:97735e6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4868 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7908 infores:orphanet PMID:11854170|PMID:19812541|PMID:18614772 Assessed uuid:97735e6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7827 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13394 infores:orphanet PMID:11805166 Assessed uuid:97735e6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5076 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8616 infores:orphanet PMID:24676634 Assessed loss_of_function_variant_form uuid:97735e6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:51196 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17175 infores:orphanet PMID:20591883 Assessed uuid:97735e6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:64423 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23791 infores:orphanet PMID:20023659 Assessed uuid:97735e70-d8a7-11f1-ae73-e4fade41113c NCBIGene:23607 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14258 infores:orphanet PMID:17713465 Assessed uuid:97735e71-d8a7-11f1-ae73-e4fade41113c NCBIGene:8542 biolink:gene_associated_with_condition Orphanet:656 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:618 infores:orphanet PMID:20668430|PMID:26901816 Not yet assessed uuid:97735e72-d8a7-11f1-ae73-e4fade41113c NCBIGene:4643 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7599 infores:orphanet PMID:21756023 Assessed uuid:97735e73-d8a7-11f1-ae73-e4fade41113c NCBIGene:5800 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9678 infores:orphanet PMID:21722858 Assessed uuid:97735e74-d8a7-11f1-ae73-e4fade41113c NCBIGene:83478 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25361 infores:orphanet PMID:21911940 Assessed loss_of_function_variant_form uuid:97735e75-d8a7-11f1-ae73-e4fade41113c NCBIGene:396 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:678 infores:orphanet PMID:23434736 Assessed loss_of_function_variant_form uuid:97735e76-d8a7-11f1-ae73-e4fade41113c NCBIGene:79934 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19041 infores:orphanet PMID:24270420 Assessed loss_of_function_variant_form uuid:97735e77-d8a7-11f1-ae73-e4fade41113c NCBIGene:2013 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3334 infores:orphanet PMID:24814193 Assessed loss_of_function_variant_form uuid:97735e78-d8a7-11f1-ae73-e4fade41113c NCBIGene:54443 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14082 infores:orphanet PMID:24676636 Assessed uuid:97735e79-d8a7-11f1-ae73-e4fade41113c NCBIGene:286204 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18688 infores:orphanet PMID:25557779 Assessed loss_of_function_variant_form uuid:97735e7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:25959 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29300 infores:orphanet PMID:25961457 Assessed uuid:97735e7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57122 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29914 infores:orphanet PMID:26411495 Assessed uuid:97735e7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9688 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28958 infores:orphanet PMID:26878725 Assessed loss_of_function_variant_form uuid:97735e7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:23165 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18658 infores:orphanet PMID:26878725 Assessed uuid:97735e7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3911 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6485 infores:orphanet PMID:29534211 Assessed uuid:97735e7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9863 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18957 infores:orphanet PMID:29773874 Assessed uuid:97735e80-d8a7-11f1-ae73-e4fade41113c NCBIGene:26130 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23375 infores:orphanet PMID:29959197 Assessed uuid:97735e81-d8a7-11f1-ae73-e4fade41113c NCBIGene:51479 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20763 infores:orphanet PMID:29959197 Assessed uuid:97735e82-d8a7-11f1-ae73-e4fade41113c NCBIGene:79902 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8734 infores:orphanet PMID:30179222 Assessed uuid:97735e83-d8a7-11f1-ae73-e4fade41113c NCBIGene:79023 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29929 infores:orphanet PMID:30179222 Assessed uuid:97735e84-d8a7-11f1-ae73-e4fade41113c NCBIGene:23279 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18017 infores:orphanet PMID:30179222 Assessed uuid:97735e85-d8a7-11f1-ae73-e4fade41113c NCBIGene:55746 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18016 infores:orphanet PMID:30179222 Assessed uuid:97735e86-d8a7-11f1-ae73-e4fade41113c NCBIGene:54885 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24715 infores:orphanet PMID:30661770 Assessed loss_of_function_variant_form uuid:97735e87-d8a7-11f1-ae73-e4fade41113c NCBIGene:23500 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18143 infores:orphanet PMID:33232676 Assessed uuid:97735e88-d8a7-11f1-ae73-e4fade41113c NCBIGene:10677 biolink:causes Orphanet:656 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14188 infores:orphanet PMID:29058690 Assessed uuid:97735e89-d8a7-11f1-ae73-e4fade41113c NCBIGene:9630 biolink:causes Orphanet:2122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4382 infores:orphanet PMID:27476652 Assessed uuid:97735e8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4854 biolink:causes Orphanet:2591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7883 infores:orphanet PMID:23731542 Assessed uuid:97735e8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5159 biolink:causes Orphanet:2591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8804 infores:orphanet PMID:23731537|PMID:23731542 Assessed uuid:97735e8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5095 biolink:causes Orphanet:35 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8653 infores:orphanet PMID:22593918 Assessed uuid:97735e8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5096 biolink:causes Orphanet:35 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8654 infores:orphanet PMID:22593918 Assessed uuid:97735e8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4567 biolink:gene_associated_with_condition Orphanet:663 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7490 infores:orphanet Not yet assessed uuid:97735e8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4574 biolink:causes Orphanet:663 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7497 infores:orphanet PMID:23696415 Assessed uuid:97735e90-d8a7-11f1-ae73-e4fade41113c NCBIGene:4568 biolink:causes Orphanet:663 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7491 infores:orphanet PMID:23696415 Assessed uuid:97735e91-d8a7-11f1-ae73-e4fade41113c NCBIGene:4570 biolink:causes Orphanet:663 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7493 infores:orphanet PMID:23696415 Assessed uuid:97735e92-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:causes Orphanet:220 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12796 infores:orphanet PMID:1655284 Assessed uuid:97735e93-d8a7-11f1-ae73-e4fade41113c NCBIGene:3030 biolink:causes Orphanet:5 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4801 infores:orphanet Assessed uuid:97735e94-d8a7-11f1-ae73-e4fade41113c NCBIGene:2639 biolink:causes Orphanet:25 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4189 infores:orphanet PMID:18775954 Assessed loss_of_function_variant_form uuid:97735e95-d8a7-11f1-ae73-e4fade41113c NCBIGene:1019 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1773 infores:orphanet PMID:19585149 Assessed uuid:97735e96-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1787 infores:orphanet PMID:19585149 Assessed uuid:97735e97-d8a7-11f1-ae73-e4fade41113c NCBIGene:4286 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7105 infores:orphanet PMID:25431349 Assessed uuid:97735e98-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11730 infores:orphanet PMID:23348503 Assessed uuid:97735e99-d8a7-11f1-ae73-e4fade41113c NCBIGene:4157 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6929 infores:orphanet PMID:24238329|PMID:24258989 Assessed uuid:97735e9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:950 infores:orphanet PMID:25431349 Assessed uuid:97735e9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1030 biolink:gene_associated_with_condition Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1788 infores:orphanet Not yet assessed uuid:97735e9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4255 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7059 infores:orphanet PMID:24801985 Assessed uuid:97735e9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:25913 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17284 infores:orphanet PMID:24686846|PMID:24686849 Assessed uuid:97735e9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:65057 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25070 infores:orphanet PMID:25431349 Assessed uuid:97735e9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:54386 biolink:contributes_to Orphanet:618 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:19246 infores:orphanet PMID:25431349 Assessed uuid:97735ea0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1717 biolink:causes Orphanet:818 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2860 infores:orphanet PMID:20301322 Assessed loss_of_function_variant_form uuid:97735ea1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3624 biolink:causes Orphanet:213504 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6066 infores:orphanet PMID:24302632 Assessed uuid:97735ea2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6023 biolink:causes Orphanet:175 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10031 infores:orphanet PMID:22420014 Assessed uuid:97735ea3-d8a7-11f1-ae73-e4fade41113c NCBIGene:34 biolink:causes Orphanet:42 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:89 infores:orphanet PMID:20301597 Assessed uuid:97735ea4-d8a7-11f1-ae73-e4fade41113c NCBIGene:18 biolink:causes Orphanet:2066 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23 infores:orphanet PMID:9746906|PMID:10407778 Assessed uuid:97735ea5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3295 biolink:causes Orphanet:300 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5213 infores:orphanet PMID:9915948|PMID:24553428|PMID:25967389 Assessed uuid:97735ea6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1962 biolink:causes Orphanet:300 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3247 infores:orphanet PMID:9501266 Assessed uuid:97735ea7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2064 biolink:gene_associated_with_condition Orphanet:213726 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:3430 infores:orphanet PMID:38443321 Assessed uuid:97735ea8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7531 biolink:gene_associated_with_condition Orphanet:213711 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12851 infores:orphanet PMID:25299308|PMID:22223660 Assessed uuid:97735ea9-d8a7-11f1-ae73-e4fade41113c NCBIGene:221895 biolink:gene_associated_with_condition Orphanet:213711 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:28917 infores:orphanet PMID:25299308 Assessed uuid:97735eaa-d8a7-11f1-ae73-e4fade41113c NCBIGene:23512 biolink:gene_associated_with_condition Orphanet:213711 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:17101 infores:orphanet PMID:25299308 Assessed uuid:97735eab-d8a7-11f1-ae73-e4fade41113c NCBIGene:728118 biolink:gene_associated_with_condition Orphanet:213711 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:23438 infores:orphanet PMID:25299308|PMID:22223660 Assessed uuid:97735eac-d8a7-11f1-ae73-e4fade41113c NCBIGene:729262 biolink:gene_associated_with_condition Orphanet:213711 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:23445 infores:orphanet PMID:25299308|PMID:22223660 Assessed uuid:97735ead-d8a7-11f1-ae73-e4fade41113c NCBIGene:843 biolink:causes Orphanet:3261 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1500 infores:orphanet PMID:20301287|PMID:10412980|PMID:17999750 Assessed uuid:97735eae-d8a7-11f1-ae73-e4fade41113c NCBIGene:355 biolink:causes Orphanet:3261 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11920 infores:orphanet PMID:22983577|PMID:21885602|PMID:20301287 Assessed uuid:97735eaf-d8a7-11f1-ae73-e4fade41113c NCBIGene:355 biolink:causes Orphanet:3261 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11920 infores:orphanet PMID:22983577|PMID:21885602|PMID:20301287 Assessed uuid:97735eb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:356 biolink:causes Orphanet:3261 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11936 infores:orphanet PMID:20301287|PMID:16627752|PMID:17605793 Assessed uuid:97735eb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:129563 biolink:causes Orphanet:2849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28648 infores:orphanet PMID:22306653 Assessed uuid:97735eb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:contributes_to Orphanet:747 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:33589587 Assessed uuid:97735eb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:113189 biolink:causes Orphanet:2953 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24464 infores:orphanet PMID:22581468|PMID:20533528 Assessed loss_of_function_variant_form uuid:97735eb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:29940 biolink:causes Orphanet:2953 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21144 infores:orphanet PMID:23704329 Assessed loss_of_function_variant_form uuid:97735eb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5308 biolink:causes Orphanet:782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9005 infores:orphanet PMID:19513095 Assessed loss_of_function_variant_form uuid:97735eb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5308 biolink:causes Orphanet:782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9005 infores:orphanet PMID:19513095 Assessed gain_of_function_variant_form uuid:97735eb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2296 biolink:causes Orphanet:782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3800 infores:orphanet PMID:19513095 Assessed uuid:97735eb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55997 biolink:gene_associated_with_condition Orphanet:216718 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:18292 infores:orphanet PMID:11799476 Not yet assessed uuid:97735eb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7547 biolink:contributes_to Orphanet:216718 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12874 infores:orphanet PMID:23427188 Assessed uuid:97735eba-d8a7-11f1-ae73-e4fade41113c NCBIGene:23389 biolink:gene_associated_with_condition Orphanet:216718 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:22962 infores:orphanet Not yet assessed uuid:97735ebb-d8a7-11f1-ae73-e4fade41113c NCBIGene:2657 biolink:gene_associated_with_condition Orphanet:216718 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4214 infores:orphanet Not yet assessed uuid:97735ebc-d8a7-11f1-ae73-e4fade41113c NCBIGene:55997 biolink:gene_associated_with_condition Orphanet:216729 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:18292 infores:orphanet PMID:11799476 Not yet assessed uuid:97735ebd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2184 biolink:causes Orphanet:882 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3579 infores:orphanet PMID:20301688 Assessed uuid:97735ebe-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:216796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:21438135|PMID:20301472 Assessed uuid:97735ebf-d8a7-11f1-ae73-e4fade41113c NCBIGene:1278 biolink:causes Orphanet:216796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2198 infores:orphanet PMID:21438135|PMID:20301472 Assessed uuid:97735ec0-d8a7-11f1-ae73-e4fade41113c NCBIGene:51360 biolink:causes Orphanet:216796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15455 infores:orphanet PMID:27380894 Assessed loss_of_function_variant_form uuid:97735ec1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5034 biolink:causes Orphanet:216796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8548 infores:orphanet PMID:30913006|PMID:30948499 Assessed uuid:97735ec2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9871 biolink:causes Orphanet:216796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10706 infores:orphanet PMID:25683121 Assessed uuid:97735ec3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:216804 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:21438135|PMID:20301472 Assessed uuid:97735ec4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1278 biolink:causes Orphanet:216804 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2198 infores:orphanet PMID:21438135|PMID:20301472 Assessed uuid:97735ec5-d8a7-11f1-ae73-e4fade41113c NCBIGene:64175 biolink:causes Orphanet:216804 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19316 infores:orphanet PMID:21438135 Assessed uuid:97735ec6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10491 biolink:causes Orphanet:216804 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2379 infores:orphanet PMID:21438135 Assessed uuid:97735ec7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5479 biolink:causes Orphanet:216804 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9255 infores:orphanet PMID:21438135 Assessed uuid:97735ec8-d8a7-11f1-ae73-e4fade41113c NCBIGene:23184 biolink:causes Orphanet:216804 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13520 infores:orphanet PMID:33596325|PMID:31564437 Assessed loss_of_function_variant_form uuid:97735ec9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:21438135|PMID:20301472 Assessed uuid:97735eca-d8a7-11f1-ae73-e4fade41113c NCBIGene:1278 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2198 infores:orphanet PMID:21438135|PMID:20301472 Assessed uuid:97735ecb-d8a7-11f1-ae73-e4fade41113c NCBIGene:64175 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19316 infores:orphanet PMID:21438135 Assessed uuid:97735ecc-d8a7-11f1-ae73-e4fade41113c NCBIGene:10491 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2379 infores:orphanet PMID:21438135 Assessed uuid:97735ecd-d8a7-11f1-ae73-e4fade41113c NCBIGene:51360 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15455 infores:orphanet PMID:27380894 Assessed uuid:97735ece-d8a7-11f1-ae73-e4fade41113c NCBIGene:90993 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18856 infores:orphanet PMID:24079343 Assessed uuid:97735ecf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5479 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9255 infores:orphanet PMID:21438135 Assessed uuid:97735ed0-d8a7-11f1-ae73-e4fade41113c NCBIGene:871 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1546 infores:orphanet PMID:21438135 Assessed uuid:97735ed1-d8a7-11f1-ae73-e4fade41113c NCBIGene:60681 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18169 infores:orphanet PMID:21438135|PMID:25046257 Assessed uuid:97735ed2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5176 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8824 infores:orphanet PMID:21353196|PMID:25046257 Assessed uuid:97735ed3-d8a7-11f1-ae73-e4fade41113c NCBIGene:649 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1067 infores:orphanet PMID:22052668 Assessed uuid:97735ed4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7471 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12774 infores:orphanet PMID:23499310|PMID:25046257 Assessed loss_of_function_variant_form uuid:97735ed5-d8a7-11f1-ae73-e4fade41113c NCBIGene:55603 biolink:causes Orphanet:216812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18345 infores:orphanet PMID:29358272 Assessed loss_of_function_variant_form uuid:97735ed6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:21438135|PMID:20301472 Assessed uuid:97735ed7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1278 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2198 infores:orphanet PMID:21438135|PMID:20301472 Assessed uuid:97735ed8-d8a7-11f1-ae73-e4fade41113c NCBIGene:10491 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2379 infores:orphanet PMID:21438135 Assessed uuid:97735ed9-d8a7-11f1-ae73-e4fade41113c NCBIGene:51360 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15455 infores:orphanet PMID:27380894 Assessed uuid:97735eda-d8a7-11f1-ae73-e4fade41113c NCBIGene:5479 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9255 infores:orphanet PMID:21282188 Assessed uuid:97735edb-d8a7-11f1-ae73-e4fade41113c NCBIGene:60681 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18169 infores:orphanet PMID:21438135|PMID:25046257 Assessed uuid:97735edc-d8a7-11f1-ae73-e4fade41113c NCBIGene:121340 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17321 infores:orphanet PMID:21438135 Assessed uuid:97735edd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5176 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8824 infores:orphanet PMID:25046257 Assessed uuid:97735ede-d8a7-11f1-ae73-e4fade41113c NCBIGene:55151 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25535 infores:orphanet PMID:23313006|PMID:25046257 Assessed uuid:97735edf-d8a7-11f1-ae73-e4fade41113c NCBIGene:7471 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12774 infores:orphanet PMID:23434763|PMID:25046257 Assessed loss_of_function_variant_form uuid:97735ee0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6678 biolink:causes Orphanet:216820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11219 infores:orphanet PMID:26027498 Assessed uuid:97735ee1-d8a7-11f1-ae73-e4fade41113c NCBIGene:387733 biolink:causes Orphanet:216828 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16644 infores:orphanet PMID:22863190|PMID:22863195|PMID:25046257 Assessed uuid:97735ee2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9487 biolink:causes Orphanet:3474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8966 infores:orphanet PMID:22444671 Assessed uuid:97735ee3-d8a7-11f1-ae73-e4fade41113c NCBIGene:80025 biolink:causes Orphanet:216866 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15894 infores:orphanet Assessed uuid:97735ee4-d8a7-11f1-ae73-e4fade41113c NCBIGene:80025 biolink:causes Orphanet:216873 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15894 infores:orphanet Assessed uuid:97735ee5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4864 biolink:causes Orphanet:216972 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7897 infores:orphanet PMID:20301473 Assessed uuid:97735ee6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10577 biolink:causes Orphanet:216972 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14537 infores:orphanet PMID:20301473 Assessed uuid:97735ee7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4864 biolink:causes Orphanet:216978 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7897 infores:orphanet PMID:20301473 Assessed uuid:97735ee8-d8a7-11f1-ae73-e4fade41113c NCBIGene:10577 biolink:causes Orphanet:216978 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14537 infores:orphanet PMID:20301473 Assessed uuid:97735ee9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6770 biolink:gene_associated_with_condition Orphanet:361 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11359 infores:orphanet PMID:19773404 Not yet assessed uuid:97735eea-d8a7-11f1-ae73-e4fade41113c NCBIGene:4158 biolink:causes Orphanet:361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6930 infores:orphanet PMID:8069303|PMID:17128564|PMID:18492762 Assessed uuid:97735eeb-d8a7-11f1-ae73-e4fade41113c NCBIGene:56246 biolink:causes Orphanet:361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1304 infores:orphanet PMID:15654338|PMID:17893271|PMID:20427498 Assessed uuid:97735eec-d8a7-11f1-ae73-e4fade41113c NCBIGene:10587 biolink:causes Orphanet:361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18155 infores:orphanet PMID:24601690 Assessed loss_of_function_variant_form uuid:97735eed-d8a7-11f1-ae73-e4fade41113c NCBIGene:23530 biolink:causes Orphanet:361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7863 infores:orphanet PMID:22634753 Assessed uuid:97735eee-d8a7-11f1-ae73-e4fade41113c NCBIGene:4864 biolink:causes Orphanet:216975 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7897 infores:orphanet PMID:20301473 Assessed uuid:97735eef-d8a7-11f1-ae73-e4fade41113c NCBIGene:10577 biolink:causes Orphanet:216975 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14537 infores:orphanet PMID:20301473 Assessed uuid:97735ef0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4864 biolink:causes Orphanet:216986 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7897 infores:orphanet PMID:20301473 Assessed uuid:97735ef1-d8a7-11f1-ae73-e4fade41113c NCBIGene:10577 biolink:causes Orphanet:216986 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14537 infores:orphanet PMID:20301473 Assessed uuid:97735ef2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4864 biolink:causes Orphanet:216981 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7897 infores:orphanet PMID:20301473 Assessed uuid:97735ef3-d8a7-11f1-ae73-e4fade41113c NCBIGene:10577 biolink:causes Orphanet:216981 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14537 infores:orphanet PMID:20301473 Assessed uuid:97735ef4-d8a7-11f1-ae73-e4fade41113c NCBIGene:146227 biolink:causes Orphanet:217012 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24160 infores:orphanet PMID:17611710|PMID:19878914|PMID:22992774|PMID:20301317 Assessed uuid:97735ef5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6514 biolink:causes Orphanet:2088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11006 infores:orphanet PMID:21327337|PMID:22865906 Assessed uuid:97735ef6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3105 biolink:contributes_to Orphanet:179 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4931 infores:orphanet PMID:24474930 Assessed uuid:97735ef7-d8a7-11f1-ae73-e4fade41113c NCBIGene:158326 biolink:causes Orphanet:217266 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23399 infores:orphanet PMID:19732862|PMID:23401257 Assessed loss_of_function_variant_form uuid:97735ef8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3423 biolink:causes Orphanet:217093 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5389 infores:orphanet Assessed uuid:97735ef9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1493 biolink:gene_associated_with_condition Orphanet:2584 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2505 infores:orphanet PMID:26258847 Assessed uuid:97735efa-d8a7-11f1-ae73-e4fade41113c NCBIGene:7133 biolink:causes Orphanet:2584 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11917 infores:orphanet PMID:26258847 Assessed uuid:97735efb-d8a7-11f1-ae73-e4fade41113c NCBIGene:940 biolink:gene_associated_with_condition Orphanet:2584 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1653 infores:orphanet PMID:26258847 Assessed uuid:97735efc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1493 biolink:gene_associated_with_condition Orphanet:3162 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2505 infores:orphanet PMID:26258847 Assessed uuid:97735efd-d8a7-11f1-ae73-e4fade41113c NCBIGene:7133 biolink:causes Orphanet:3162 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11917 infores:orphanet PMID:26258847 Assessed uuid:97735efe-d8a7-11f1-ae73-e4fade41113c NCBIGene:940 biolink:gene_associated_with_condition Orphanet:3162 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1653 infores:orphanet PMID:26258847 Assessed uuid:97735eff-d8a7-11f1-ae73-e4fade41113c NCBIGene:3423 biolink:causes Orphanet:217085 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5389 infores:orphanet Assessed uuid:97735f00-d8a7-11f1-ae73-e4fade41113c NCBIGene:114548 biolink:causes Orphanet:1451 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16400 infores:orphanet PMID:15801036|PMID:12032915 Assessed uuid:97735f01-d8a7-11f1-ae73-e4fade41113c NCBIGene:3248 biolink:causes Orphanet:217059 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5154 infores:orphanet PMID:18805827 Assessed uuid:97735f02-d8a7-11f1-ae73-e4fade41113c NCBIGene:54332 biolink:causes Orphanet:217055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15968 infores:orphanet PMID:12566285|PMID:12499475 Assessed uuid:97735f03-d8a7-11f1-ae73-e4fade41113c NCBIGene:54453 biolink:causes Orphanet:217335 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18750 infores:orphanet PMID:19631308|PMID:24449201 Assessed loss_of_function_variant_form uuid:97735f04-d8a7-11f1-ae73-e4fade41113c NCBIGene:4281 biolink:causes Orphanet:2745 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7095 infores:orphanet PMID:15558842 Assessed uuid:97735f05-d8a7-11f1-ae73-e4fade41113c NCBIGene:5972 biolink:causes Orphanet:217330 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9958 infores:orphanet PMID:21473025 Assessed uuid:97735f06-d8a7-11f1-ae73-e4fade41113c NCBIGene:478 biolink:causes Orphanet:1171 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:801 infores:orphanet PMID:24468074 Assessed gain_of_function_variant_form uuid:97735f07-d8a7-11f1-ae73-e4fade41113c NCBIGene:6440 biolink:causes Orphanet:217566 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10802 infores:orphanet PMID:22018035|PMID:20403820 Assessed uuid:97735f08-d8a7-11f1-ae73-e4fade41113c NCBIGene:6439 biolink:causes Orphanet:217563 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10801 infores:orphanet PMID:23330012 Assessed loss_of_function_variant_form uuid:97735f09-d8a7-11f1-ae73-e4fade41113c NCBIGene:1825 biolink:causes Orphanet:217407 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3037 infores:orphanet PMID:19765682 Assessed uuid:97735f0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3273 biolink:causes Orphanet:217467 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5181 infores:orphanet PMID:9414276 Assessed uuid:97735f0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:81704 biolink:causes Orphanet:217390 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19191 infores:orphanet Assessed uuid:97735f0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5048 biolink:gene_associated_with_condition Orphanet:217385 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:8574 infores:orphanet PMID:21195811 Assessed uuid:97735f0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7531 biolink:gene_associated_with_condition Orphanet:217385 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12851 infores:orphanet PMID:21195811 Assessed uuid:97735f0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:60386 biolink:causes Orphanet:217396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14409 infores:orphanet PMID:19798730 Assessed uuid:97735f0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55687 biolink:causes Orphanet:217371 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25481 infores:orphanet PMID:19732863 Assessed uuid:97735f10-d8a7-11f1-ae73-e4fade41113c NCBIGene:57616 biolink:gene_associated_with_condition Orphanet:217346 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:30700 infores:orphanet PMID:36553458 Assessed uuid:97735f11-d8a7-11f1-ae73-e4fade41113c NCBIGene:2348 biolink:causes Orphanet:217382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3791 infores:orphanet PMID:19732866 Assessed loss_of_function_variant_form uuid:97735f12-d8a7-11f1-ae73-e4fade41113c NCBIGene:23096 biolink:gene_associated_with_condition Orphanet:217377 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:29059 infores:orphanet PMID:26059843 Assessed uuid:97735f13-d8a7-11f1-ae73-e4fade41113c NCBIGene:2070 biolink:causes Orphanet:217622 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3522 infores:orphanet PMID:15735644 Assessed uuid:97735f14-d8a7-11f1-ae73-e4fade41113c NCBIGene:2162 biolink:causes Orphanet:331 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3531 infores:orphanet PMID:21738029 Assessed uuid:97735f15-d8a7-11f1-ae73-e4fade41113c NCBIGene:2165 biolink:causes Orphanet:331 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3534 infores:orphanet PMID:21738029 Assessed uuid:97735f16-d8a7-11f1-ae73-e4fade41113c NCBIGene:788 biolink:causes Orphanet:159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1421 infores:orphanet Assessed uuid:97735f17-d8a7-11f1-ae73-e4fade41113c NCBIGene:5345 biolink:causes Orphanet:79 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9075 infores:orphanet PMID:17961166|PMID:11472338 Assessed uuid:97735f18-d8a7-11f1-ae73-e4fade41113c NCBIGene:3034 biolink:causes Orphanet:2157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4806 infores:orphanet PMID:15806399 Assessed uuid:97735f19-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:gene_associated_with_condition Orphanet:220402 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet Not yet assessed uuid:97735f1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1490 biolink:gene_associated_with_condition Orphanet:220402 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2500 infores:orphanet Not yet assessed uuid:97735f1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:857 biolink:contributes_to Orphanet:220402 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1527 infores:orphanet PMID:22402147 Assessed uuid:97735f1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3663 biolink:contributes_to Orphanet:220402 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6120 infores:orphanet PMID:23372721 Assessed uuid:97735f1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:79932 biolink:gene_associated_with_condition Orphanet:220402 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:30071 infores:orphanet PMID:23740937 Not yet assessed uuid:97735f1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1235 biolink:contributes_to Orphanet:220402 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1607 infores:orphanet PMID:23983073 Assessed uuid:97735f1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10157 biolink:causes Orphanet:3124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17366 infores:orphanet PMID:10775527|PMID:23570448 Assessed uuid:97735f20-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:gene_associated_with_condition Orphanet:220407 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet Not yet assessed uuid:97735f21-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9585 infores:orphanet Assessed uuid:97735f22-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet Assessed uuid:97735f23-d8a7-11f1-ae73-e4fade41113c NCBIGene:6496 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10889 infores:orphanet Assessed uuid:97735f24-d8a7-11f1-ae73-e4fade41113c NCBIGene:8243 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11111 infores:orphanet PMID:31334757 Assessed loss_of_function_variant_form uuid:97735f25-d8a7-11f1-ae73-e4fade41113c NCBIGene:7050 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11776 infores:orphanet Assessed uuid:97735f26-d8a7-11f1-ae73-e4fade41113c NCBIGene:7546 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12873 infores:orphanet Assessed uuid:97735f27-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3688 infores:orphanet PMID:27363716 Assessed uuid:97735f28-d8a7-11f1-ae73-e4fade41113c NCBIGene:2736 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4318 infores:orphanet Assessed uuid:97735f29-d8a7-11f1-ae73-e4fade41113c NCBIGene:6997 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11701 infores:orphanet Assessed uuid:97735f2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8928 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3814 infores:orphanet Assessed uuid:97735f2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6491 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10879 infores:orphanet PMID:29785796 Assessed uuid:97735f2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2253 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3686 infores:orphanet Assessed uuid:97735f2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:84976 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19711 infores:orphanet Assessed uuid:97735f2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:50937 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17104 infores:orphanet Assessed uuid:97735f2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4838 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7865 infores:orphanet Assessed uuid:97735f30-d8a7-11f1-ae73-e4fade41113c NCBIGene:28514 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2908 infores:orphanet Assessed uuid:97735f31-d8a7-11f1-ae73-e4fade41113c NCBIGene:2619 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4165 infores:orphanet Assessed uuid:97735f32-d8a7-11f1-ae73-e4fade41113c NCBIGene:10735 biolink:causes Orphanet:220386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11355 infores:orphanet PMID:31334757 Assessed loss_of_function_variant_form uuid:97735f33-d8a7-11f1-ae73-e4fade41113c NCBIGene:10157 biolink:causes Orphanet:2203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17366 infores:orphanet PMID:23570448|PMID:23890588|PMID:10775527 Assessed uuid:97735f34-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:gene_associated_with_condition Orphanet:220393 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet Not yet assessed uuid:97735f35-d8a7-11f1-ae73-e4fade41113c NCBIGene:1490 biolink:gene_associated_with_condition Orphanet:220393 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2500 infores:orphanet Not yet assessed uuid:97735f36-d8a7-11f1-ae73-e4fade41113c NCBIGene:857 biolink:contributes_to Orphanet:220393 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1527 infores:orphanet PMID:22402147 Assessed uuid:97735f37-d8a7-11f1-ae73-e4fade41113c NCBIGene:3663 biolink:contributes_to Orphanet:220393 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6120 infores:orphanet PMID:23372721 Assessed uuid:97735f38-d8a7-11f1-ae73-e4fade41113c NCBIGene:1235 biolink:contributes_to Orphanet:220393 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1607 infores:orphanet PMID:23983073 Assessed uuid:97735f39-d8a7-11f1-ae73-e4fade41113c NCBIGene:2694 biolink:causes Orphanet:332 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4268 infores:orphanet PMID:14695536 Assessed uuid:97735f3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6947 biolink:causes Orphanet:2967 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11652 infores:orphanet PMID:19686235 Assessed uuid:97735f3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5328 biolink:causes Orphanet:220436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9052 infores:orphanet PMID:20007542 Assessed uuid:97735f3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6505 biolink:causes Orphanet:2195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10939 infores:orphanet PMID:21123949 Assessed loss_of_function_variant_form uuid:97735f3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4548 biolink:causes Orphanet:2170 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7468 infores:orphanet PMID:20301503 Assessed uuid:97735f3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2068 biolink:causes Orphanet:220295 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3434 infores:orphanet PMID:20301571 Assessed uuid:97735f3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2072 biolink:causes Orphanet:220295 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3436 infores:orphanet PMID:20301571 Assessed uuid:97735f40-d8a7-11f1-ae73-e4fade41113c NCBIGene:2071 biolink:causes Orphanet:220295 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3435 infores:orphanet PMID:20301571 Assessed uuid:97735f41-d8a7-11f1-ae73-e4fade41113c NCBIGene:2073 biolink:causes Orphanet:220295 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3437 infores:orphanet PMID:20301571 Assessed uuid:97735f42-d8a7-11f1-ae73-e4fade41113c NCBIGene:4942 biolink:causes Orphanet:414 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8091 infores:orphanet PMID:23076989 Assessed uuid:97735f43-d8a7-11f1-ae73-e4fade41113c NCBIGene:162417 biolink:causes Orphanet:927 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17996 infores:orphanet PMID:20301316 Assessed uuid:97735f44-d8a7-11f1-ae73-e4fade41113c NCBIGene:5105 biolink:causes Orphanet:2880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8724 infores:orphanet Assessed uuid:97735f45-d8a7-11f1-ae73-e4fade41113c NCBIGene:5106 biolink:causes Orphanet:2880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8725 infores:orphanet PMID:2044592 Assessed uuid:97735f46-d8a7-11f1-ae73-e4fade41113c NCBIGene:132158 biolink:causes Orphanet:941 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24247 infores:orphanet PMID:20949620 Assessed uuid:97735f47-d8a7-11f1-ae73-e4fade41113c NCBIGene:6777 biolink:causes Orphanet:220465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11367 infores:orphanet PMID:22419735|PMID:29844444 Assessed uuid:97735f48-d8a7-11f1-ae73-e4fade41113c NCBIGene:324 biolink:causes Orphanet:220460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:583 infores:orphanet PMID:17489848 Assessed uuid:97735f49-d8a7-11f1-ae73-e4fade41113c NCBIGene:51181 biolink:causes Orphanet:2843 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18985 infores:orphanet PMID:22042873 Assessed uuid:97735f4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4867 biolink:causes Orphanet:220497 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7905 infores:orphanet PMID:20615230|PMID:20301500 Assessed uuid:97735f4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:23322 biolink:causes Orphanet:220497 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29168 infores:orphanet PMID:20615230|PMID:20301500 Assessed uuid:97735f4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:65062 biolink:causes Orphanet:220497 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14432 infores:orphanet PMID:20301500|PMID:22152675 Assessed uuid:97735f4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1491 biolink:causes Orphanet:212 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2501 infores:orphanet PMID:20584029|PMID:19428278 Assessed loss_of_function_variant_form uuid:97735f4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:54806 biolink:causes Orphanet:220493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21575 infores:orphanet PMID:20615230|PMID:20301500 Assessed uuid:97735f4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:54903 biolink:causes Orphanet:220493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7121 infores:orphanet PMID:24886560 Assessed uuid:97735f50-d8a7-11f1-ae73-e4fade41113c NCBIGene:56623 biolink:causes Orphanet:220493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21474 infores:orphanet PMID:23386033|PMID:19668216|PMID:20301500 Assessed uuid:97735f51-d8a7-11f1-ae73-e4fade41113c NCBIGene:95681 biolink:causes Orphanet:220493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12370 infores:orphanet PMID:20301500|PMID:22246503 Assessed loss_of_function_variant_form uuid:97735f52-d8a7-11f1-ae73-e4fade41113c NCBIGene:153241 biolink:causes Orphanet:220493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26690 infores:orphanet PMID:27208211 Assessed uuid:97735f53-d8a7-11f1-ae73-e4fade41113c NCBIGene:9056 biolink:causes Orphanet:470 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11065 infores:orphanet PMID:20301535 Assessed uuid:97735f54-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9588 infores:orphanet PMID:23779253 Not yet assessed uuid:97735f55-d8a7-11f1-ae73-e4fade41113c NCBIGene:5888 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9817 infores:orphanet PMID:10807537|PMID:24114315 Not yet assessed uuid:97735f56-d8a7-11f1-ae73-e4fade41113c NCBIGene:672 biolink:causes Orphanet:145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1100 infores:orphanet PMID:16112002|PMID:20301425 Assessed loss_of_function_variant_form uuid:97735f57-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:causes Orphanet:145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1101 infores:orphanet PMID:16112002|PMID:20301425 Assessed loss_of_function_variant_form uuid:97735f58-d8a7-11f1-ae73-e4fade41113c NCBIGene:83990 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:20473 infores:orphanet PMID:17033622 Not yet assessed uuid:97735f59-d8a7-11f1-ae73-e4fade41113c NCBIGene:11200 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16627 infores:orphanet PMID:21562711 Not yet assessed uuid:97735f5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11998 infores:orphanet PMID:24884479|PMID:23779253 Not yet assessed uuid:97735f5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:472 biolink:contributes_to Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:795 infores:orphanet PMID:33471991 Assessed uuid:97735f5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4361 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7230 infores:orphanet PMID:22006311|PMID:14684699 Not yet assessed uuid:97735f5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4683 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7652 infores:orphanet PMID:22006311|PMID:14684699 Not yet assessed uuid:97735f5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:79728 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:26144 infores:orphanet PMID:23779253 Not yet assessed uuid:97735f5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:580 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:952 infores:orphanet PMID:15342711 Not yet assessed uuid:97735f60-d8a7-11f1-ae73-e4fade41113c NCBIGene:5889 biolink:causes Orphanet:145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9820 infores:orphanet PMID:20400964|PMID:21990120 Assessed uuid:97735f61-d8a7-11f1-ae73-e4fade41113c NCBIGene:10111 biolink:gene_associated_with_condition Orphanet:145 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9816 infores:orphanet PMID:22006311|PMID:14684699 Not yet assessed uuid:97735f62-d8a7-11f1-ae73-e4fade41113c NCBIGene:5892 biolink:causes Orphanet:145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9823 infores:orphanet PMID:21822267 Assessed uuid:97735f63-d8a7-11f1-ae73-e4fade41113c NCBIGene:64072 biolink:contributes_to Orphanet:2965 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:13733 infores:orphanet PMID:28413019 Assessed uuid:97735f64-d8a7-11f1-ae73-e4fade41113c NCBIGene:4221 biolink:contributes_to Orphanet:2965 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7010 infores:orphanet PMID:23321498 Assessed uuid:97735f65-d8a7-11f1-ae73-e4fade41113c NCBIGene:9049 biolink:contributes_to Orphanet:2965 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:358 infores:orphanet PMID:22319033|PMID:23321498 Assessed uuid:97735f66-d8a7-11f1-ae73-e4fade41113c NCBIGene:7248 biolink:causes Orphanet:538 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12362 infores:orphanet PMID:17541983 Assessed uuid:97735f67-d8a7-11f1-ae73-e4fade41113c NCBIGene:7249 biolink:causes Orphanet:538 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12363 infores:orphanet PMID:17541983 Assessed uuid:97735f68-d8a7-11f1-ae73-e4fade41113c NCBIGene:5092 biolink:causes Orphanet:1578 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8646 infores:orphanet PMID:9760199 Assessed uuid:97735f69-d8a7-11f1-ae73-e4fade41113c NCBIGene:6389 biolink:causes Orphanet:3208 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10680 infores:orphanet PMID:22972948 Assessed uuid:97735f6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6390 biolink:causes Orphanet:3208 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10681 infores:orphanet PMID:22972948 Assessed uuid:97735f6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6392 biolink:causes Orphanet:3208 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10683 infores:orphanet PMID:24367056 Assessed loss_of_function_variant_form uuid:97735f6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:644096 biolink:causes Orphanet:3208 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33867 infores:orphanet PMID:19465911 Assessed uuid:97735f6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:64682 biolink:causes Orphanet:221008 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19988 infores:orphanet PMID:31303264 Assessed uuid:97735f6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2271 biolink:causes Orphanet:24 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3700 infores:orphanet PMID:20301679 Assessed loss_of_function_variant_form uuid:97735f6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9401 biolink:causes Orphanet:221016 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9949 infores:orphanet PMID:20503338|PMID:20301415 Assessed uuid:97735f70-d8a7-11f1-ae73-e4fade41113c NCBIGene:6341 biolink:causes Orphanet:1561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10603 infores:orphanet PMID:11013136|PMID:19295170|PMID:23878101 Assessed uuid:97735f71-d8a7-11f1-ae73-e4fade41113c NCBIGene:9997 biolink:causes Orphanet:1561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10604 infores:orphanet PMID:10545952 Assessed uuid:97735f72-d8a7-11f1-ae73-e4fade41113c NCBIGene:1355 biolink:causes Orphanet:1561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2263 infores:orphanet PMID:2175025|PMID:21412973 Assessed uuid:97735f73-d8a7-11f1-ae73-e4fade41113c NCBIGene:493753 biolink:causes Orphanet:1561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33848 infores:orphanet PMID:21457908 Assessed uuid:97735f74-d8a7-11f1-ae73-e4fade41113c NCBIGene:388753 biolink:causes Orphanet:1561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18025 infores:orphanet PMID:24549041|PMID:25339201 Assessed uuid:97735f75-d8a7-11f1-ae73-e4fade41113c NCBIGene:617 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1020 infores:orphanet PMID:17403714|PMID:19162478|PMID:25914718 Assessed uuid:97735f76-d8a7-11f1-ae73-e4fade41113c NCBIGene:4519 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7427 infores:orphanet PMID:20862300|PMID:25914718 Assessed uuid:97735f77-d8a7-11f1-ae73-e4fade41113c NCBIGene:27089 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29594 infores:orphanet PMID:18439546|PMID:25914718 Assessed uuid:97735f78-d8a7-11f1-ae73-e4fade41113c NCBIGene:7381 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12582 infores:orphanet PMID:12709789|PMID:25914718 Assessed uuid:97735f79-d8a7-11f1-ae73-e4fade41113c NCBIGene:54902 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26006 infores:orphanet PMID:21278747|PMID:25914718 Assessed uuid:97735f7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7385 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12586 infores:orphanet PMID:23281071|PMID:25914718 Assessed uuid:97735f7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1537 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2579 infores:orphanet PMID:23910460|PMID:25914718 Assessed uuid:97735f7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:90624 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28072 infores:orphanet PMID:24014394|PMID:25914718 Assessed uuid:97735f7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:84300 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21237 infores:orphanet PMID:24385928|PMID:25914718 Assessed uuid:97735f7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:790955 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34399 infores:orphanet PMID:25008109|PMID:25914718 Assessed uuid:97735f7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7386 biolink:causes Orphanet:1460 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12587 infores:orphanet PMID:32001716 Assessed uuid:97735f80-d8a7-11f1-ae73-e4fade41113c NCBIGene:2313 biolink:gene_associated_with_condition Orphanet:851 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3749 infores:orphanet PMID:7703487|PMID:22775407 Assessed uuid:97735f81-d8a7-11f1-ae73-e4fade41113c NCBIGene:374393 biolink:causes Orphanet:221043 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24200 infores:orphanet PMID:24268661 Assessed uuid:97735f82-d8a7-11f1-ae73-e4fade41113c NCBIGene:79650 biolink:causes Orphanet:221046 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25792 infores:orphanet PMID:20004881|PMID:20503306 Assessed uuid:97735f83-d8a7-11f1-ae73-e4fade41113c NCBIGene:5624 biolink:causes Orphanet:745 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9451 infores:orphanet PMID:23521084 Assessed uuid:97735f84-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:221061 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:34496175 Assessed uuid:97735f85-d8a7-11f1-ae73-e4fade41113c NCBIGene:83605 biolink:causes Orphanet:221061 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21708 infores:orphanet PMID:20301470 Assessed loss_of_function_variant_form uuid:97735f86-d8a7-11f1-ae73-e4fade41113c NCBIGene:889 biolink:causes Orphanet:221061 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1573 infores:orphanet PMID:20301470 Assessed loss_of_function_variant_form uuid:97735f87-d8a7-11f1-ae73-e4fade41113c NCBIGene:11235 biolink:causes Orphanet:221061 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8761 infores:orphanet PMID:20301470 Assessed uuid:97735f88-d8a7-11f1-ae73-e4fade41113c NCBIGene:3674 biolink:causes Orphanet:849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6138 infores:orphanet PMID:21917754 Assessed uuid:97735f89-d8a7-11f1-ae73-e4fade41113c NCBIGene:3690 biolink:causes Orphanet:849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6156 infores:orphanet PMID:21917754 Assessed uuid:97735f8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:103 biolink:causes Orphanet:225154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:225 infores:orphanet PMID:24262145 Assessed loss_of_function_variant_form uuid:97735f8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4508 biolink:causes Orphanet:225154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7414 infores:orphanet Assessed uuid:97735f8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23636 biolink:causes Orphanet:225154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8066 infores:orphanet Assessed uuid:97735f8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:53371 biolink:causes Orphanet:225154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17359 infores:orphanet PMID:36333996 Assessed uuid:97735f8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7036 biolink:causes Orphanet:225123 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11762 infores:orphanet PMID:26029709 Assessed loss_of_function_variant_form uuid:97735f8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55640 biolink:causes Orphanet:221126 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20105 infores:orphanet PMID:20206334 Assessed uuid:97735f90-d8a7-11f1-ae73-e4fade41113c NCBIGene:5293 biolink:causes Orphanet:221139 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8977 infores:orphanet PMID:29180244 Assessed uuid:97735f91-d8a7-11f1-ae73-e4fade41113c NCBIGene:90417 biolink:causes Orphanet:221139 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30767 infores:orphanet PMID:29180244 Assessed uuid:97735f92-d8a7-11f1-ae73-e4fade41113c NCBIGene:8425 biolink:causes Orphanet:221145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6717 infores:orphanet PMID:19836010|PMID:22829427 Assessed loss_of_function_variant_form uuid:97735f93-d8a7-11f1-ae73-e4fade41113c NCBIGene:8425 biolink:causes Orphanet:221145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6717 infores:orphanet PMID:19836010|PMID:22829427 Assessed gain_of_function_variant_form uuid:97735f94-d8a7-11f1-ae73-e4fade41113c NCBIGene:11151 biolink:causes Orphanet:228003 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2252 infores:orphanet PMID:23522482 Assessed uuid:97735f95-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:842 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6342 infores:orphanet PMID:14695343 Assessed uuid:97735f96-d8a7-11f1-ae73-e4fade41113c NCBIGene:84233 biolink:causes Orphanet:227976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25382 infores:orphanet PMID:19327736|PMID:22815638 Assessed uuid:97735f97-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:gene_associated_with_condition Orphanet:227796 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9942 infores:orphanet Not yet assessed uuid:97735f98-d8a7-11f1-ae73-e4fade41113c NCBIGene:5959 biolink:causes Orphanet:227796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9940 infores:orphanet PMID:22736946|PMID:25820994 Assessed uuid:97735f99-d8a7-11f1-ae73-e4fade41113c NCBIGene:6017 biolink:causes Orphanet:227796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10024 infores:orphanet PMID:21447491 Assessed uuid:97735f9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5604 biolink:causes Orphanet:389 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6840 infores:orphanet PMID:26980021 Assessed uuid:97735f9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4893 biolink:causes Orphanet:389 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7989 infores:orphanet PMID:27076591 Assessed uuid:97735f9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4646 biolink:causes Orphanet:228012 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7605 infores:orphanet PMID:15060111 Assessed uuid:97735f9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4609 biolink:gene_associated_with_condition Orphanet:543 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7553 infores:orphanet Assessed uuid:97735f9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2078 biolink:gene_associated_with_condition Orphanet:319 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3446 infores:orphanet Assessed uuid:97735f9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2115 biolink:gene_associated_with_condition Orphanet:319 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3490 infores:orphanet Assessed uuid:97735fa0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2130 biolink:gene_associated_with_condition Orphanet:319 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3508 infores:orphanet Assessed uuid:97735fa1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2313 biolink:gene_associated_with_condition Orphanet:319 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3749 infores:orphanet Assessed uuid:97735fa2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2118 biolink:gene_associated_with_condition Orphanet:319 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3493 infores:orphanet Assessed uuid:97735fa3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5925 biolink:gene_associated_with_condition Orphanet:668 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9884 infores:orphanet PMID:11449317 Assessed uuid:97735fa4-d8a7-11f1-ae73-e4fade41113c NCBIGene:11200 biolink:gene_associated_with_condition Orphanet:668 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16627 infores:orphanet PMID:11746983 Not yet assessed uuid:97735fa5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:668 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:2823272|PMID:1349175|PMID:8401536 Assessed uuid:97735fa6-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:668 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11998 infores:orphanet PMID:8401536|PMID:2823272 Assessed uuid:97735fa7-d8a7-11f1-ae73-e4fade41113c NCBIGene:27235 biolink:contributes_to Orphanet:227510 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25223 infores:orphanet PMID:23758206 Assessed uuid:97735fa8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2120 biolink:gene_associated_with_condition Orphanet:2030 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3495 infores:orphanet Assessed uuid:97735fa9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4916 biolink:gene_associated_with_condition Orphanet:2030 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8033 infores:orphanet Assessed uuid:97735faa-d8a7-11f1-ae73-e4fade41113c NCBIGene:6778 biolink:gene_associated_with_condition Orphanet:2126 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11368 infores:orphanet PMID:23313952|PMID:23313954 Assessed uuid:97735fab-d8a7-11f1-ae73-e4fade41113c NCBIGene:4665 biolink:gene_associated_with_condition Orphanet:2126 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7627 infores:orphanet PMID:23313952|PMID:23313954 Assessed uuid:97735fac-d8a7-11f1-ae73-e4fade41113c NCBIGene:368 biolink:causes Orphanet:758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:57 infores:orphanet PMID:20032990|PMID:20301292 Assessed loss_of_function_variant_form uuid:97735fad-d8a7-11f1-ae73-e4fade41113c NCBIGene:5167 biolink:causes Orphanet:758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3356 infores:orphanet PMID:25615550 Assessed uuid:97735fae-d8a7-11f1-ae73-e4fade41113c NCBIGene:5625 biolink:causes Orphanet:419 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9453 infores:orphanet PMID:20524212|PMID:23462603 Assessed uuid:97735faf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5573 biolink:causes Orphanet:1501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9388 infores:orphanet PMID:31147626 Assessed uuid:97735fb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:causes Orphanet:1501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1787 infores:orphanet PMID:25490274 Assessed uuid:97735fb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:1501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:11600572 Assessed uuid:97735fb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:1501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11998 infores:orphanet PMID:25490274 Assessed uuid:97735fb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:1501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:2514 infores:orphanet PMID:24747642 Assessed uuid:97735fb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:causes Orphanet:1501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11730 infores:orphanet PMID:25490274 Assessed uuid:97735fb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:84133 biolink:causes Orphanet:1501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:18126 infores:orphanet PMID:24747642 Assessed uuid:97735fb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:50506 biolink:causes Orphanet:226316 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13273 infores:orphanet PMID:25248169 Assessed loss_of_function_variant_form uuid:97735fb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5449 biolink:causes Orphanet:226307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9210 infores:orphanet PMID:20537182|PMID:22851492 Assessed uuid:97735fb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5626 biolink:causes Orphanet:226307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9455 infores:orphanet PMID:20537182|PMID:22851492 Assessed uuid:97735fb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:8820 biolink:causes Orphanet:226307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4877 infores:orphanet PMID:20537182|PMID:22851492 Assessed uuid:97735fba-d8a7-11f1-ae73-e4fade41113c NCBIGene:8022 biolink:causes Orphanet:226307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6595 infores:orphanet PMID:20537182|PMID:22851492 Assessed uuid:97735fbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:89884 biolink:causes Orphanet:226307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21734 infores:orphanet PMID:20537182|PMID:22851492 Assessed uuid:97735fbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6760 biolink:gene_associated_with_condition Orphanet:3273 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11340 infores:orphanet Assessed uuid:97735fbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6756 biolink:gene_associated_with_condition Orphanet:3273 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11335 infores:orphanet Assessed uuid:97735fbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:6757 biolink:gene_associated_with_condition Orphanet:3273 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11336 infores:orphanet Assessed uuid:97735fbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2317 biolink:causes Orphanet:503 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3755 infores:orphanet Assessed uuid:97735fc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:361 biolink:causes Orphanet:2478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:637 infores:orphanet PMID:37143309 Assessed uuid:97735fc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:51704 biolink:causes Orphanet:2478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13308 infores:orphanet PMID:37143309 Assessed uuid:97735fc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:23209 biolink:causes Orphanet:2478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17082 infores:orphanet PMID:20301707 Assessed uuid:97735fc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:220296 biolink:causes Orphanet:2478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26361 infores:orphanet PMID:20301707 Assessed uuid:97735fc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2628 biolink:causes Orphanet:3337 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4175 infores:orphanet PMID:29654216 Assessed uuid:97735fc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1962 biolink:causes Orphanet:3337 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3247 infores:orphanet PMID:24401050 Assessed uuid:97735fc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:137682 biolink:causes Orphanet:3337 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28625 infores:orphanet PMID:27466185 Assessed uuid:97735fc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6569 biolink:causes Orphanet:3337 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11019 infores:orphanet PMID:20335586 Assessed loss_of_function_variant_form uuid:97735fc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:554 biolink:causes Orphanet:223 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:897 infores:orphanet PMID:20301356 Assessed uuid:97735fc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:359 biolink:causes Orphanet:223 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:634 infores:orphanet PMID:20301356 Assessed uuid:97735fca-d8a7-11f1-ae73-e4fade41113c NCBIGene:2624 biolink:causes Orphanet:228423 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4171 infores:orphanet PMID:21765025|PMID:21670465 Assessed uuid:97735fcb-d8a7-11f1-ae73-e4fade41113c NCBIGene:25 biolink:gene_associated_with_condition Orphanet:521 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:76 infores:orphanet Assessed uuid:97735fcc-d8a7-11f1-ae73-e4fade41113c NCBIGene:861 biolink:gene_associated_with_condition Orphanet:521 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:10471 infores:orphanet PMID:22318203 Assessed uuid:97735fcd-d8a7-11f1-ae73-e4fade41113c NCBIGene:613 biolink:gene_associated_with_condition Orphanet:521 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1014 infores:orphanet Assessed uuid:97735fce-d8a7-11f1-ae73-e4fade41113c NCBIGene:64324 biolink:gene_associated_with_condition Orphanet:228415 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14234 infores:orphanet PMID:24819041 Assessed uuid:97735fcf-d8a7-11f1-ae73-e4fade41113c NCBIGene:590 biolink:causes Orphanet:132 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:983 infores:orphanet PMID:25054547|PMID:25448037 Assessed uuid:97735fd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:83737 biolink:causes Orphanet:228426 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13890 infores:orphanet PMID:20170897 Assessed uuid:97735fd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:392255 biolink:causes Orphanet:2345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4221 infores:orphanet PMID:18425797 Assessed uuid:97735fd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9573 biolink:causes Orphanet:2345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4218 infores:orphanet PMID:19864492 Assessed uuid:97735fd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4222 biolink:causes Orphanet:2345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7013 infores:orphanet PMID:23290072 Assessed uuid:97735fd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:284119 biolink:causes Orphanet:228429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9688 infores:orphanet PMID:20684003|PMID:27894728 Assessed uuid:97735fd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:672 biolink:contributes_to Orphanet:1333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1100 infores:orphanet PMID:18855126 Assessed uuid:97735fd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:contributes_to Orphanet:1333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1101 infores:orphanet PMID:12569143 Assessed uuid:97735fd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:contributes_to Orphanet:1333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1787 infores:orphanet PMID:25240578 Assessed uuid:97735fd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4089 biolink:contributes_to Orphanet:1333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6770 infores:orphanet PMID:25240578 Assessed uuid:97735fd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:contributes_to Orphanet:1333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11998 infores:orphanet PMID:25240578 Assessed uuid:97735fda-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:contributes_to Orphanet:1333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6407 infores:orphanet PMID:25240578 Assessed uuid:97735fdb-d8a7-11f1-ae73-e4fade41113c NCBIGene:79728 biolink:contributes_to Orphanet:1333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:26144 infores:orphanet PMID:20412113|PMID:21365267 Assessed uuid:97735fdc-d8a7-11f1-ae73-e4fade41113c NCBIGene:23022 biolink:contributes_to Orphanet:1333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17068 infores:orphanet PMID:17194196 Assessed uuid:97735fdd-d8a7-11f1-ae73-e4fade41113c NCBIGene:285282 biolink:causes Orphanet:1333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18072 infores:orphanet PMID:31406347 Assessed uuid:97735fde-d8a7-11f1-ae73-e4fade41113c NCBIGene:579 biolink:causes Orphanet:228387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:951 infores:orphanet PMID:20004766 Assessed uuid:97735fdf-d8a7-11f1-ae73-e4fade41113c NCBIGene:60529 biolink:causes Orphanet:228390 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:450 infores:orphanet PMID:23401352 Assessed uuid:97735fe0-d8a7-11f1-ae73-e4fade41113c NCBIGene:55777 biolink:gene_associated_with_condition Orphanet:228402 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:20444 infores:orphanet PMID:19809484 Assessed uuid:97735fe1-d8a7-11f1-ae73-e4fade41113c NCBIGene:256471 biolink:causes Orphanet:228366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28486 infores:orphanet PMID:34733232|PMID:27238410 Assessed uuid:97735fe2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4208 biolink:gene_associated_with_condition Orphanet:228384 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6996 infores:orphanet PMID:20513142 Assessed uuid:97735fe3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4747 biolink:causes Orphanet:228374 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7739 infores:orphanet PMID:20039262 Assessed uuid:97735fe4-d8a7-11f1-ae73-e4fade41113c NCBIGene:80331 biolink:causes Orphanet:228343 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16235 infores:orphanet PMID:27629553 Assessed uuid:97735fe5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1376 biolink:causes Orphanet:228302 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2330 infores:orphanet Assessed uuid:97735fe6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1376 biolink:causes Orphanet:228305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2330 infores:orphanet Assessed uuid:97735fe7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1376 biolink:causes Orphanet:228308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2330 infores:orphanet Assessed uuid:97735fe8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6005 biolink:causes Orphanet:3203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10006 infores:orphanet PMID:23664421 Assessed uuid:97735fe9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6521 biolink:causes Orphanet:3202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11027 infores:orphanet PMID:16227998 Assessed uuid:97735fea-d8a7-11f1-ae73-e4fade41113c NCBIGene:9780 biolink:causes Orphanet:3202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:28993 infores:orphanet PMID:22529292|PMID:23695678 Assessed gain_of_function_variant_form uuid:97735feb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3783 biolink:causes Orphanet:3202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6293 infores:orphanet PMID:26148990|PMID:26198474 Assessed uuid:97735fec-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:228140 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10593 infores:orphanet PMID:10940383 Assessed uuid:97735fed-d8a7-11f1-ae73-e4fade41113c NCBIGene:1804 biolink:causes Orphanet:228140 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3010 infores:orphanet PMID:19285295|PMID:21512816 Assessed uuid:97735fee-d8a7-11f1-ae73-e4fade41113c NCBIGene:1287 biolink:gene_associated_with_condition Orphanet:1018 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2207 infores:orphanet PMID:20951201 Assessed uuid:97735fef-d8a7-11f1-ae73-e4fade41113c NCBIGene:1288 biolink:gene_associated_with_condition Orphanet:1018 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2208 infores:orphanet PMID:20951201 Assessed uuid:97735ff0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:causes Orphanet:306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10588 infores:orphanet PMID:23360469 Assessed uuid:97735ff1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3785 biolink:causes Orphanet:306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6296 infores:orphanet Assessed uuid:97735ff2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3786 biolink:causes Orphanet:306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6297 infores:orphanet PMID:23360469 Assessed uuid:97735ff3-d8a7-11f1-ae73-e4fade41113c NCBIGene:112476 biolink:causes Orphanet:306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30500 infores:orphanet PMID:22243967|PMID:22399141|PMID:22623405 Assessed uuid:97735ff4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6334 biolink:causes Orphanet:306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10596 infores:orphanet PMID:26677014 Assessed gain_of_function_variant_form uuid:97735ff5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2159 biolink:causes Orphanet:328 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3528 infores:orphanet PMID:15892863|PMID:26222694|PMID:26309706 Assessed uuid:97735ff6-d8a7-11f1-ae73-e4fade41113c NCBIGene:16 biolink:causes Orphanet:228174 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20 infores:orphanet PMID:20301462 Assessed uuid:97735ff7-d8a7-11f1-ae73-e4fade41113c NCBIGene:8622 biolink:causes Orphanet:228169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8794 infores:orphanet PMID:20085714 Assessed uuid:97735ff8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:2132 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:21886666 Assessed uuid:97735ff9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:2133 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:21886666 Assessed uuid:97735ffa-d8a7-11f1-ae73-e4fade41113c NCBIGene:1785 biolink:causes Orphanet:228179 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2974 infores:orphanet PMID:18394888|PMID:17636067 Assessed uuid:97735ffb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6708 biolink:causes Orphanet:288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11272 infores:orphanet PMID:23664421 Assessed uuid:97735ffc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6710 biolink:causes Orphanet:288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11274 infores:orphanet PMID:23664421 Assessed uuid:97735ffd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2035 biolink:causes Orphanet:288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3377 infores:orphanet PMID:23664421 Assessed uuid:97735ffe-d8a7-11f1-ae73-e4fade41113c NCBIGene:2995 biolink:causes Orphanet:288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4704 infores:orphanet PMID:1884026|PMID:8353290 Assessed uuid:97735fff-d8a7-11f1-ae73-e4fade41113c NCBIGene:388552 biolink:causes Orphanet:231531 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20914 infores:orphanet PMID:16420244|PMID:27514596|PMID:20301464 Assessed uuid:97736000-d8a7-11f1-ae73-e4fade41113c NCBIGene:84062 biolink:causes Orphanet:231531 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17328 infores:orphanet PMID:12923531 Assessed uuid:97736001-d8a7-11f1-ae73-e4fade41113c NCBIGene:26258 biolink:causes Orphanet:231531 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8549 infores:orphanet PMID:16420244|PMID:27514596|PMID:20301464 Assessed uuid:97736002-d8a7-11f1-ae73-e4fade41113c NCBIGene:63915 biolink:causes Orphanet:231531 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18561 infores:orphanet PMID:16420244|PMID:27514596|PMID:20301464 Assessed uuid:97736003-d8a7-11f1-ae73-e4fade41113c NCBIGene:84343 biolink:causes Orphanet:231512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15597 infores:orphanet Assessed uuid:97736004-d8a7-11f1-ae73-e4fade41113c NCBIGene:11234 biolink:causes Orphanet:231512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17022 infores:orphanet Assessed uuid:97736005-d8a7-11f1-ae73-e4fade41113c NCBIGene:79803 biolink:causes Orphanet:231512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18817 infores:orphanet Assessed uuid:97736006-d8a7-11f1-ae73-e4fade41113c NCBIGene:1861 biolink:causes Orphanet:256 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3098 infores:orphanet PMID:20301665 Assessed uuid:97736007-d8a7-11f1-ae73-e4fade41113c NCBIGene:5610 biolink:causes Orphanet:256 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9437 infores:orphanet PMID:33236446 Assessed uuid:97736008-d8a7-11f1-ae73-e4fade41113c NCBIGene:55164 biolink:causes Orphanet:256 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25543 infores:orphanet PMID:34542157 Assessed uuid:97736009-d8a7-11f1-ae73-e4fade41113c NCBIGene:3257 biolink:causes Orphanet:231500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5163 infores:orphanet Assessed uuid:9773600a-d8a7-11f1-ae73-e4fade41113c NCBIGene:89781 biolink:causes Orphanet:231500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15844 infores:orphanet Assessed uuid:9773600b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3060 biolink:contributes_to Orphanet:2073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4847 infores:orphanet PMID:10973318|PMID:23643651 Assessed uuid:9773600c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:contributes_to Orphanet:2073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:18706091|PMID:19410508 Assessed uuid:9773600d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3119 biolink:contributes_to Orphanet:2073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4944 infores:orphanet PMID:18706091 Assessed uuid:9773600e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4340 biolink:contributes_to Orphanet:2073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7197 infores:orphanet PMID:21907016 Assessed uuid:9773600f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7292 biolink:contributes_to Orphanet:2073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11934 infores:orphanet PMID:23459209 Assessed uuid:97736010-d8a7-11f1-ae73-e4fade41113c NCBIGene:1512 biolink:contributes_to Orphanet:2073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2535 infores:orphanet PMID:23459209 Assessed uuid:97736011-d8a7-11f1-ae73-e4fade41113c NCBIGene:5032 biolink:contributes_to Orphanet:2073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:8540 infores:orphanet PMID:24204295 Assessed uuid:97736012-d8a7-11f1-ae73-e4fade41113c NCBIGene:22891 biolink:contributes_to Orphanet:2073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:18194 infores:orphanet PMID:24204295 Assessed uuid:97736013-d8a7-11f1-ae73-e4fade41113c NCBIGene:546 biolink:causes Orphanet:231401 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:886 infores:orphanet Assessed uuid:97736014-d8a7-11f1-ae73-e4fade41113c NCBIGene:2623 biolink:causes Orphanet:231393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4170 infores:orphanet PMID:20301538 Assessed uuid:97736015-d8a7-11f1-ae73-e4fade41113c NCBIGene:6928 biolink:causes Orphanet:1309 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11630 infores:orphanet PMID:33305128 Assessed uuid:97736016-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:231242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:21886666 Assessed uuid:97736017-d8a7-11f1-ae73-e4fade41113c NCBIGene:55811 biolink:contributes_to Orphanet:2197 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:21285 infores:orphanet PMID:11932268 Assessed uuid:97736018-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:231237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:18932066 Assessed uuid:97736019-d8a7-11f1-ae73-e4fade41113c NCBIGene:3047 biolink:causes Orphanet:231237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4831 infores:orphanet PMID:18932066 Assessed uuid:9773601a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3045 biolink:causes Orphanet:231237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4829 infores:orphanet PMID:1301204 Assessed uuid:9773601b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:231226 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:21886666 Assessed uuid:9773601c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:231222 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:21886666 Assessed uuid:9773601d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:231214 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:21886666 Assessed uuid:9773601e-d8a7-11f1-ae73-e4fade41113c NCBIGene:27032 biolink:causes Orphanet:2841 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13211 infores:orphanet PMID:10615129 Assessed uuid:9773601f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7401 biolink:causes Orphanet:231183 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12605 infores:orphanet PMID:19753315 Assessed uuid:97736020-d8a7-11f1-ae73-e4fade41113c NCBIGene:4575 biolink:gene_associated_with_condition Orphanet:231183 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7498 infores:orphanet Not yet assessed uuid:97736021-d8a7-11f1-ae73-e4fade41113c NCBIGene:3035 biolink:causes Orphanet:231183 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4816 infores:orphanet PMID:22279524 Assessed uuid:97736022-d8a7-11f1-ae73-e4fade41113c NCBIGene:84131 biolink:causes Orphanet:231183 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25740 infores:orphanet PMID:27627988 Assessed uuid:97736023-d8a7-11f1-ae73-e4fade41113c NCBIGene:22901 biolink:causes Orphanet:231183 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24102 infores:orphanet PMID:29300381 Assessed uuid:97736024-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:causes Orphanet:347 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12796 infores:orphanet PMID:25623218 Assessed uuid:97736025-d8a7-11f1-ae73-e4fade41113c NCBIGene:7399 biolink:causes Orphanet:231178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12601 infores:orphanet PMID:20301515 Assessed uuid:97736026-d8a7-11f1-ae73-e4fade41113c NCBIGene:84059 biolink:causes Orphanet:231178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17416 infores:orphanet PMID:20301515 Assessed uuid:97736027-d8a7-11f1-ae73-e4fade41113c NCBIGene:4647 biolink:causes Orphanet:231178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7606 infores:orphanet PMID:24831256 Assessed uuid:97736028-d8a7-11f1-ae73-e4fade41113c NCBIGene:25861 biolink:causes Orphanet:231178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16361 infores:orphanet PMID:20301515 Assessed uuid:97736029-d8a7-11f1-ae73-e4fade41113c NCBIGene:79955 biolink:contributes_to Orphanet:231178 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:26257 infores:orphanet PMID:20440071 Assessed uuid:9773602a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4556 biolink:causes Orphanet:2596 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7479 infores:orphanet PMID:15048886 Assessed uuid:9773602b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5896 biolink:causes Orphanet:231154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9831 infores:orphanet Assessed uuid:9773602c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5199 biolink:causes Orphanet:2966 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8864 infores:orphanet PMID:8871668 Assessed uuid:9773602d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1281 biolink:gene_associated_with_condition Orphanet:231160 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2201 infores:orphanet PMID:22241462 Not yet assessed uuid:9773602e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2022 biolink:contributes_to Orphanet:231160 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3349 infores:orphanet PMID:19299629 Assessed uuid:9773602f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7049 biolink:gene_associated_with_condition Orphanet:231160 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11774 infores:orphanet PMID:19299629 Not yet assessed uuid:97736030-d8a7-11f1-ae73-e4fade41113c NCBIGene:83854 biolink:causes Orphanet:231160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23140 infores:orphanet PMID:29304371 Assessed loss_of_function_variant_form uuid:97736031-d8a7-11f1-ae73-e4fade41113c NCBIGene:55901 biolink:causes Orphanet:231160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17754 infores:orphanet PMID:27895300 Assessed uuid:97736032-d8a7-11f1-ae73-e4fade41113c NCBIGene:64072 biolink:causes Orphanet:231169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13733 infores:orphanet PMID:20301442 Assessed loss_of_function_variant_form uuid:97736033-d8a7-11f1-ae73-e4fade41113c NCBIGene:10083 biolink:causes Orphanet:231169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12597 infores:orphanet PMID:20301442 Assessed loss_of_function_variant_form uuid:97736034-d8a7-11f1-ae73-e4fade41113c NCBIGene:124590 biolink:causes Orphanet:231169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16356 infores:orphanet PMID:20301442 Assessed loss_of_function_variant_form uuid:97736035-d8a7-11f1-ae73-e4fade41113c NCBIGene:4647 biolink:causes Orphanet:231169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7606 infores:orphanet PMID:20301442 Assessed loss_of_function_variant_form uuid:97736036-d8a7-11f1-ae73-e4fade41113c NCBIGene:65217 biolink:causes Orphanet:231169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14674 infores:orphanet PMID:20301442 Assessed loss_of_function_variant_form uuid:97736037-d8a7-11f1-ae73-e4fade41113c NCBIGene:83715 biolink:causes Orphanet:231169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13281 infores:orphanet PMID:29572253 Assessed uuid:97736038-d8a7-11f1-ae73-e4fade41113c NCBIGene:283120 biolink:gene_associated_with_condition Orphanet:231140 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4713 infores:orphanet PMID:19675668 Assessed uuid:97736039-d8a7-11f1-ae73-e4fade41113c NCBIGene:3481 biolink:gene_associated_with_condition Orphanet:231140 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5466 infores:orphanet PMID:33236057 Assessed uuid:9773603a-d8a7-11f1-ae73-e4fade41113c NCBIGene:283120 biolink:gene_associated_with_condition Orphanet:231144 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4713 infores:orphanet PMID:28592837 Assessed uuid:9773603b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3481 biolink:gene_associated_with_condition Orphanet:231144 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5466 infores:orphanet PMID:20503324 Assessed uuid:9773603c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1028 biolink:causes Orphanet:231120 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1786 infores:orphanet PMID:26077438|PMID:20803657|PMID:20301568 Assessed loss_of_function_variant_form uuid:9773603d-d8a7-11f1-ae73-e4fade41113c NCBIGene:283120 biolink:gene_associated_with_condition Orphanet:231127 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4713 infores:orphanet PMID:15314640 Assessed uuid:9773603e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6598 biolink:causes Orphanet:231108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11103 infores:orphanet PMID:10521299 Assessed loss_of_function_variant_form uuid:9773603f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6597 biolink:causes Orphanet:231108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11100 infores:orphanet PMID:20137775|PMID:21566516 Assessed uuid:97736040-d8a7-11f1-ae73-e4fade41113c NCBIGene:283120 biolink:gene_associated_with_condition Orphanet:231117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4713 infores:orphanet PMID:21863054|PMID:20803657|PMID:20301568 Assessed uuid:97736041-d8a7-11f1-ae73-e4fade41113c NCBIGene:10984 biolink:gene_associated_with_condition Orphanet:231117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6295 infores:orphanet PMID:12019213|PMID:20803657|PMID:20301568 Assessed uuid:97736042-d8a7-11f1-ae73-e4fade41113c NCBIGene:3481 biolink:gene_associated_with_condition Orphanet:231117 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5466 infores:orphanet PMID:21863054|PMID:20803657|PMID:20301568 Assessed uuid:97736043-d8a7-11f1-ae73-e4fade41113c NCBIGene:23328 biolink:causes Orphanet:231040 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19182 infores:orphanet PMID:26203640 Assessed uuid:97736044-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:gene_associated_with_condition Orphanet:3318 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:11998 infores:orphanet PMID:9258660|PMID:21653328|PMID:20068225 Assessed uuid:97736045-d8a7-11f1-ae73-e4fade41113c NCBIGene:3717 biolink:causes Orphanet:3318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6192 infores:orphanet PMID:21653328|PMID:21825979 Assessed uuid:97736046-d8a7-11f1-ae73-e4fade41113c NCBIGene:4352 biolink:causes Orphanet:3318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7217 infores:orphanet Assessed uuid:97736047-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:gene_associated_with_condition Orphanet:3318 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:25941 infores:orphanet PMID:19262601|PMID:23781511 Assessed uuid:97736048-d8a7-11f1-ae73-e4fade41113c NCBIGene:811 biolink:causes Orphanet:3318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1455 infores:orphanet PMID:24325256|PMID:24325359 Assessed uuid:97736049-d8a7-11f1-ae73-e4fade41113c NCBIGene:10019 biolink:causes Orphanet:3318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:29605 infores:orphanet PMID:21653328|PMID:21825979 Assessed uuid:9773604a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:230857 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:15728585|PMID:23692737|PMID:25674388 Assessed uuid:9773604b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1278 biolink:causes Orphanet:230857 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2198 infores:orphanet PMID:23692737 Assessed uuid:9773604c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1278 biolink:causes Orphanet:230851 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2198 infores:orphanet PMID:15077201|PMID:16816023 Assessed uuid:9773604d-d8a7-11f1-ae73-e4fade41113c NCBIGene:462 biolink:causes Orphanet:82 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:775 infores:orphanet PMID:24684277 Assessed uuid:9773604e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7148 biolink:causes Orphanet:230839 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11976 infores:orphanet PMID:11642233 Assessed uuid:9773604f-d8a7-11f1-ae73-e4fade41113c NCBIGene:336 biolink:causes Orphanet:238269 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:601 infores:orphanet PMID:11401442 Assessed uuid:97736050-d8a7-11f1-ae73-e4fade41113c NCBIGene:7337 biolink:gene_associated_with_condition Orphanet:238446 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12496 infores:orphanet PMID:25884337 Assessed uuid:97736051-d8a7-11f1-ae73-e4fade41113c NCBIGene:9131 biolink:causes Orphanet:238329 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8768 infores:orphanet PMID:20362274 Assessed uuid:97736052-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:231568 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:97736053-d8a7-11f1-ae73-e4fade41113c NCBIGene:2688 biolink:causes Orphanet:231671 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4261 infores:orphanet PMID:19762173|PMID:22139958 Assessed uuid:97736054-d8a7-11f1-ae73-e4fade41113c NCBIGene:5351 biolink:causes Orphanet:1900 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9081 infores:orphanet PMID:15979919|PMID:20301635 Assessed uuid:97736055-d8a7-11f1-ae73-e4fade41113c NCBIGene:1281 biolink:causes Orphanet:286 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2201 infores:orphanet PMID:20301667 Assessed uuid:97736056-d8a7-11f1-ae73-e4fade41113c NCBIGene:5449 biolink:causes Orphanet:231679 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9210 infores:orphanet PMID:26612202 Assessed gain_of_function_variant_form uuid:97736057-d8a7-11f1-ae73-e4fade41113c NCBIGene:2688 biolink:causes Orphanet:231679 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4261 infores:orphanet PMID:19762173|PMID:22139958 Assessed uuid:97736058-d8a7-11f1-ae73-e4fade41113c NCBIGene:2688 biolink:causes Orphanet:231662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4261 infores:orphanet PMID:19762173|PMID:22139958 Assessed uuid:97736059-d8a7-11f1-ae73-e4fade41113c NCBIGene:55599 biolink:causes Orphanet:231662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18666 infores:orphanet PMID:24480542 Assessed uuid:9773605a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5339 biolink:causes Orphanet:257 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9069 infores:orphanet PMID:20052759 Assessed uuid:9773605b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9509 biolink:causes Orphanet:1901 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:218 infores:orphanet PMID:10417273 Assessed uuid:9773605c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9719 biolink:causes Orphanet:1901 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14631 infores:orphanet PMID:33369194 Assessed uuid:9773605d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8022 biolink:causes Orphanet:231720 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6595 infores:orphanet PMID:10835633|PMID:19762173 Assessed uuid:9773605e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:1899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:9295084|PMID:1867198 Assessed uuid:9773605f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1278 biolink:causes Orphanet:1899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2198 infores:orphanet PMID:9295084|PMID:8071956 Assessed uuid:97736060-d8a7-11f1-ae73-e4fade41113c NCBIGene:4868 biolink:causes Orphanet:839 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7908 infores:orphanet PMID:9660941 Assessed uuid:97736061-d8a7-11f1-ae73-e4fade41113c NCBIGene:3090 biolink:gene_associated_with_condition Orphanet:531 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4909 infores:orphanet PMID:10072440|PMID:10655551 Not yet assessed uuid:97736062-d8a7-11f1-ae73-e4fade41113c NCBIGene:5048 biolink:gene_associated_with_condition Orphanet:531 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:8574 infores:orphanet PMID:12621583 Assessed uuid:97736063-d8a7-11f1-ae73-e4fade41113c NCBIGene:7531 biolink:gene_associated_with_condition Orphanet:531 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12851 infores:orphanet PMID:19584063 Assessed uuid:97736064-d8a7-11f1-ae73-e4fade41113c NCBIGene:170302 biolink:causes Orphanet:452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18060 infores:orphanet PMID:12379852|PMID:12874405 Assessed loss_of_function_variant_form uuid:97736065-d8a7-11f1-ae73-e4fade41113c NCBIGene:4053 biolink:causes Orphanet:238763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6715 infores:orphanet PMID:20179738|PMID:22025892 Assessed uuid:97736066-d8a7-11f1-ae73-e4fade41113c NCBIGene:5888 biolink:causes Orphanet:238722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9817 infores:orphanet PMID:22305526 Assessed uuid:97736067-d8a7-11f1-ae73-e4fade41113c NCBIGene:1630 biolink:causes Orphanet:238722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2701 infores:orphanet PMID:20431009 Assessed uuid:97736068-d8a7-11f1-ae73-e4fade41113c NCBIGene:9423 biolink:causes Orphanet:238722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8029 infores:orphanet PMID:28945198 Assessed uuid:97736069-d8a7-11f1-ae73-e4fade41113c NCBIGene:10126 biolink:causes Orphanet:238722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2955 infores:orphanet PMID:25098561 Assessed uuid:9773606a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3192 biolink:gene_associated_with_condition Orphanet:238769 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5048 infores:orphanet PMID:28283832 Assessed uuid:9773606b-d8a7-11f1-ae73-e4fade41113c NCBIGene:939 biolink:causes Orphanet:238505 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11922 infores:orphanet PMID:22197273 Assessed uuid:9773606c-d8a7-11f1-ae73-e4fade41113c NCBIGene:347051 biolink:causes Orphanet:238475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22981 infores:orphanet PMID:38986003 Assessed uuid:9773606d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2052 biolink:causes Orphanet:238475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3401 infores:orphanet PMID:12878321|PMID:25992604 Assessed uuid:9773606e-d8a7-11f1-ae73-e4fade41113c NCBIGene:9414 biolink:causes Orphanet:238475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11828 infores:orphanet PMID:12704386 Assessed uuid:9773606f-d8a7-11f1-ae73-e4fade41113c NCBIGene:570 biolink:causes Orphanet:238475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:932 infores:orphanet PMID:12704386 Assessed uuid:97736070-d8a7-11f1-ae73-e4fade41113c NCBIGene:6554 biolink:causes Orphanet:238475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10905 infores:orphanet PMID:28835676 Assessed uuid:97736071-d8a7-11f1-ae73-e4fade41113c NCBIGene:6531 biolink:causes Orphanet:238455 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11049 infores:orphanet Assessed uuid:97736072-d8a7-11f1-ae73-e4fade41113c NCBIGene:10352 biolink:causes Orphanet:238455 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12730 infores:orphanet PMID:31970218|PMID:34890876 Assessed uuid:97736073-d8a7-11f1-ae73-e4fade41113c NCBIGene:10559 biolink:causes Orphanet:238459 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11021 infores:orphanet PMID:20301507 Assessed uuid:97736074-d8a7-11f1-ae73-e4fade41113c NCBIGene:9496 biolink:gene_associated_with_condition Orphanet:238578 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11603 infores:orphanet PMID:20598276 Assessed uuid:97736075-d8a7-11f1-ae73-e4fade41113c NCBIGene:7428 biolink:causes Orphanet:238557 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12687 infores:orphanet PMID:11987242|PMID:24115288 Assessed loss_of_function_variant_form uuid:97736076-d8a7-11f1-ae73-e4fade41113c NCBIGene:3586 biolink:causes Orphanet:238569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5962 infores:orphanet PMID:22549091 Assessed loss_of_function_variant_form uuid:97736077-d8a7-11f1-ae73-e4fade41113c NCBIGene:3587 biolink:causes Orphanet:238569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5964 infores:orphanet PMID:22549091 Assessed loss_of_function_variant_form uuid:97736078-d8a7-11f1-ae73-e4fade41113c NCBIGene:3588 biolink:causes Orphanet:238569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5965 infores:orphanet PMID:22549091 Assessed loss_of_function_variant_form uuid:97736079-d8a7-11f1-ae73-e4fade41113c NCBIGene:6519 biolink:gene_associated_with_condition Orphanet:238523 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11025 infores:orphanet PMID:18234729 Assessed uuid:9773607a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9581 biolink:gene_associated_with_condition Orphanet:238523 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:30228 infores:orphanet PMID:18234729 Assessed uuid:9773607b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79823 biolink:gene_associated_with_condition Orphanet:238523 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:26276 infores:orphanet PMID:18234729 Assessed uuid:9773607c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7200 biolink:gene_associated_with_condition Orphanet:238670 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12298 infores:orphanet PMID:20687402 Not yet assessed uuid:9773607d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4137 biolink:contributes_to Orphanet:240071 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6893 infores:orphanet Assessed uuid:9773607e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4137 biolink:contributes_to Orphanet:240112 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6893 infores:orphanet Assessed uuid:9773607f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4137 biolink:contributes_to Orphanet:240103 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6893 infores:orphanet Assessed uuid:97736080-d8a7-11f1-ae73-e4fade41113c NCBIGene:4137 biolink:contributes_to Orphanet:240094 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6893 infores:orphanet Assessed uuid:97736081-d8a7-11f1-ae73-e4fade41113c NCBIGene:4137 biolink:contributes_to Orphanet:240085 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6893 infores:orphanet Assessed uuid:97736082-d8a7-11f1-ae73-e4fade41113c NCBIGene:4361 biolink:causes Orphanet:240760 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7230 infores:orphanet PMID:21227757 Assessed loss_of_function_variant_form uuid:97736083-d8a7-11f1-ae73-e4fade41113c NCBIGene:10111 biolink:causes Orphanet:240760 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9816 infores:orphanet PMID:19409520 Assessed uuid:97736084-d8a7-11f1-ae73-e4fade41113c NCBIGene:7297 biolink:causes Orphanet:331226 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12440 infores:orphanet PMID:17088085|PMID:17521577 Assessed loss_of_function_variant_form uuid:97736085-d8a7-11f1-ae73-e4fade41113c NCBIGene:92579 biolink:causes Orphanet:331176 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24861 infores:orphanet PMID:23018568|PMID:19118303|PMID:20799326 Assessed uuid:97736086-d8a7-11f1-ae73-e4fade41113c NCBIGene:10747 biolink:causes Orphanet:331187 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6902 infores:orphanet PMID:12904520 Assessed uuid:97736087-d8a7-11f1-ae73-e4fade41113c NCBIGene:8547 biolink:causes Orphanet:331190 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3625 infores:orphanet PMID:19535802 Assessed uuid:97736088-d8a7-11f1-ae73-e4fade41113c NCBIGene:5896 biolink:causes Orphanet:331206 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9831 infores:orphanet PMID:8810255 Assessed uuid:97736089-d8a7-11f1-ae73-e4fade41113c NCBIGene:5897 biolink:causes Orphanet:331206 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9832 infores:orphanet PMID:8810255 Assessed uuid:9773608a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3040 biolink:causes Orphanet:330041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4824 infores:orphanet PMID:8416301|PMID:25031065 Assessed uuid:9773608b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:330041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:8416301 Assessed uuid:9773608c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3039 biolink:causes Orphanet:330041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4823 infores:orphanet PMID:8416301|PMID:3026948 Assessed uuid:9773608d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10059 biolink:causes Orphanet:330050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2973 infores:orphanet PMID:17460227 Assessed gain_of_function_variant_form uuid:9773608e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2671 biolink:causes Orphanet:330054 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4236 infores:orphanet PMID:19409522 Assessed uuid:9773608f-d8a7-11f1-ae73-e4fade41113c NCBIGene:25836 biolink:gene_associated_with_condition Orphanet:329802 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:28862 infores:orphanet PMID:23085304 Assessed uuid:97736090-d8a7-11f1-ae73-e4fade41113c NCBIGene:7415 biolink:causes Orphanet:329475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12666 infores:orphanet PMID:22991237 Assessed uuid:97736091-d8a7-11f1-ae73-e4fade41113c NCBIGene:348 biolink:causes Orphanet:329481 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:613 infores:orphanet PMID:21464714 Assessed uuid:97736092-d8a7-11f1-ae73-e4fade41113c NCBIGene:7415 biolink:causes Orphanet:329478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12666 infores:orphanet PMID:21684747 Assessed uuid:97736093-d8a7-11f1-ae73-e4fade41113c NCBIGene:3075 biolink:causes Orphanet:329931 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4883 infores:orphanet PMID:17018561 Assessed uuid:97736094-d8a7-11f1-ae73-e4fade41113c NCBIGene:3078 biolink:causes Orphanet:329931 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4888 infores:orphanet PMID:23728178 Assessed uuid:97736095-d8a7-11f1-ae73-e4fade41113c NCBIGene:10878 biolink:gene_associated_with_condition Orphanet:329931 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:16980 infores:orphanet PMID:22626820 Assessed uuid:97736096-d8a7-11f1-ae73-e4fade41113c NCBIGene:81494 biolink:causes Orphanet:329931 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24668 infores:orphanet PMID:20800271|PMID:22503529|PMID:23026947 Assessed uuid:97736097-d8a7-11f1-ae73-e4fade41113c NCBIGene:3080 biolink:gene_associated_with_condition Orphanet:329931 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4890 infores:orphanet PMID:31980588 Assessed uuid:97736098-d8a7-11f1-ae73-e4fade41113c NCBIGene:657 biolink:causes Orphanet:329971 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1076 infores:orphanet PMID:18823382 Assessed uuid:97736099-d8a7-11f1-ae73-e4fade41113c NCBIGene:4089 biolink:causes Orphanet:329971 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6770 infores:orphanet PMID:18823382 Assessed uuid:9773609a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2022 biolink:gene_associated_with_condition Orphanet:329971 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3349 infores:orphanet PMID:17204053|PMID:18178612 Not yet assessed uuid:9773609b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7132 biolink:gene_associated_with_condition Orphanet:329967 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11916 infores:orphanet PMID:22887853 Not yet assessed uuid:9773609c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4210 biolink:gene_associated_with_condition Orphanet:329967 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6998 infores:orphanet PMID:16802374 Not yet assessed uuid:9773609d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8526 biolink:causes Orphanet:329903 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2852 infores:orphanet PMID:23274426 Assessed uuid:9773609e-d8a7-11f1-ae73-e4fade41113c NCBIGene:79152 biolink:causes Orphanet:329308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21197 infores:orphanet PMID:20853438 Assessed uuid:9773609f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1716 biolink:causes Orphanet:329314 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2858 infores:orphanet PMID:23043144 Assessed uuid:977360a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:7066 biolink:causes Orphanet:329319 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11795 infores:orphanet PMID:19553636 Assessed uuid:977360a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:11152 biolink:causes Orphanet:329284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28912 infores:orphanet PMID:23435086 Assessed uuid:977360a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9427 biolink:causes Orphanet:329457 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3147 infores:orphanet PMID:23261301 Assessed uuid:977360a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2774 biolink:causes Orphanet:329466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4388 infores:orphanet PMID:23222958 Assessed uuid:977360a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:84662 biolink:gene_associated_with_condition Orphanet:329469 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:29450 infores:orphanet PMID:23153540 Assessed uuid:977360a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:863 biolink:gene_associated_with_condition Orphanet:329469 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1537 infores:orphanet PMID:23153540 Assessed uuid:977360a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:50484 biolink:causes Orphanet:329336 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17296 infores:orphanet PMID:23107649 Assessed uuid:977360a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:246243 biolink:causes Orphanet:329336 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18466 infores:orphanet PMID:26094573 Assessed loss_of_function_variant_form uuid:977360a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:63925 biolink:causes Orphanet:329228 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15807 infores:orphanet PMID:23178126 Assessed uuid:977360a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:55690 biolink:causes Orphanet:329224 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:30032 infores:orphanet PMID:23159249 Assessed gain_of_function_variant_form uuid:977360aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:2147 biolink:contributes_to Orphanet:329217 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3535 infores:orphanet PMID:23073861|PMID:22645618|PMID:21350198|PMID:16175009|PMID:23927452|PMID:22716977 Assessed uuid:977360ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:2153 biolink:contributes_to Orphanet:329217 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3542 infores:orphanet PMID:23073861|PMID:22721898|PMID:21350198|PMID:10519989 Assessed uuid:977360ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:8858 biolink:gene_associated_with_condition Orphanet:329217 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9460 infores:orphanet PMID:21350198|PMID:18677630|PMID:20416992 Not yet assessed uuid:977360ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:726 biolink:causes Orphanet:329211 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1482 infores:orphanet PMID:23055945 Assessed uuid:977360ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:8924 biolink:causes Orphanet:329195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4868 infores:orphanet PMID:23065719|PMID:23243086 Assessed loss_of_function_variant_form uuid:977360af-d8a7-11f1-ae73-e4fade41113c NCBIGene:4882 biolink:causes Orphanet:329191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:7944 infores:orphanet PMID:22870295 Assessed gain_of_function_variant_form uuid:977360b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4883 biolink:causes Orphanet:329191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7945 infores:orphanet PMID:30032985 Assessed uuid:977360b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8818 biolink:causes Orphanet:329178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3006 infores:orphanet PMID:23109149 Assessed uuid:977360b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:55526 biolink:causes Orphanet:329258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23537 infores:orphanet PMID:23141294 Assessed loss_of_function_variant_form uuid:977360b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:25970 biolink:causes Orphanet:329249 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30417 infores:orphanet PMID:23160192 Assessed loss_of_function_variant_form uuid:977360b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:8694 biolink:causes Orphanet:329242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2843 infores:orphanet PMID:23114594 Assessed loss_of_function_variant_form uuid:977360b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:83483 biolink:causes Orphanet:329242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13635 infores:orphanet PMID:29661969 Assessed loss_of_function_variant_form uuid:977360b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3547 biolink:causes Orphanet:329235 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5948 infores:orphanet PMID:23143598 Assessed loss_of_function_variant_form uuid:977360b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10616 biolink:causes Orphanet:329173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15864 infores:orphanet PMID:23104095 Assessed loss_of_function_variant_form uuid:977360b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55072 biolink:causes Orphanet:329173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16031 infores:orphanet PMID:26008899 Assessed uuid:977360b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2160 biolink:causes Orphanet:329 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3529 infores:orphanet PMID:18312365|PMID:22159456 Assessed uuid:977360ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:7439 biolink:causes Orphanet:1243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12703 infores:orphanet PMID:20301346|PMID:16754206 Assessed uuid:977360bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6770 biolink:causes Orphanet:325524 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11359 infores:orphanet PMID:20444910 Assessed loss_of_function_variant_form uuid:977360bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3972 biolink:causes Orphanet:325448 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6584 infores:orphanet Assessed uuid:977360bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6770 biolink:causes Orphanet:325529 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11359 infores:orphanet PMID:20444910 Assessed loss_of_function_variant_form uuid:977360be-d8a7-11f1-ae73-e4fade41113c NCBIGene:5696 biolink:causes Orphanet:324977 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9545 infores:orphanet PMID:21852578|PMID:21129723|PMID:21953331 Assessed uuid:977360bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:351 biolink:causes Orphanet:324718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:620 infores:orphanet PMID:1303239 Assessed uuid:977360c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:351 biolink:causes Orphanet:324713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:620 infores:orphanet PMID:20697050 Assessed uuid:977360c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:79644 biolink:causes Orphanet:324737 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25812 infores:orphanet PMID:20637498 Assessed uuid:977360c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:351 biolink:causes Orphanet:324723 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:620 infores:orphanet PMID:18413473 Assessed uuid:977360c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:351 biolink:causes Orphanet:324708 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:620 infores:orphanet PMID:12557012 Assessed uuid:977360c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:351 biolink:causes Orphanet:324703 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:620 infores:orphanet PMID:16178030 Assessed uuid:977360c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3798 biolink:causes Orphanet:324611 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6323 infores:orphanet PMID:21623771 Assessed uuid:977360c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:57190 biolink:causes Orphanet:324604 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15999 infores:orphanet PMID:12192640 Assessed uuid:977360c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:324604 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12403 infores:orphanet PMID:24105469 Assessed loss_of_function_variant_form uuid:977360c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4625 biolink:causes Orphanet:324604 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7577 infores:orphanet PMID:22784669 Assessed uuid:977360c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:111 biolink:causes Orphanet:324588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:236 infores:orphanet PMID:22782511 Assessed uuid:977360ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:50945 biolink:causes Orphanet:324601 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11600 infores:orphanet PMID:11559848|PMID:12374769|PMID:14729838 Assessed uuid:977360cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:324581 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:22752422 Assessed uuid:977360cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:4359 biolink:causes Orphanet:324585 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7225 infores:orphanet PMID:22704856 Assessed uuid:977360cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5119 biolink:causes Orphanet:324569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8740 infores:orphanet PMID:23023333 Assessed loss_of_function_variant_form uuid:977360ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:6927 biolink:causes Orphanet:324575 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11621 infores:orphanet PMID:22802087|PMID:25733449 Assessed uuid:977360cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:5167 biolink:causes Orphanet:324561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3356 infores:orphanet PMID:24075184 Assessed uuid:977360d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5336 biolink:causes Orphanet:324530 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9066 infores:orphanet PMID:23000145 Assessed gain_of_function_variant_form uuid:977360d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:55005 biolink:causes Orphanet:324535 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21176 infores:orphanet PMID:23022098|PMID:23022099 Assessed loss_of_function_variant_form uuid:977360d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4567 biolink:causes Orphanet:324525 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7490 infores:orphanet PMID:22781753 Assessed uuid:977360d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3094 biolink:causes Orphanet:324442 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4912 infores:orphanet PMID:22961002 Assessed loss_of_function_variant_form uuid:977360d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:79868 biolink:causes Orphanet:324422 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30881 infores:orphanet PMID:22492991 Assessed uuid:977360d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1193 biolink:causes Orphanet:324410 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2063 infores:orphanet PMID:22814392 Assessed uuid:977360d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:776 biolink:causes Orphanet:324321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1391 infores:orphanet PMID:21131953 Assessed loss_of_function_variant_form uuid:977360d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2034 biolink:causes Orphanet:324299 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3374 infores:orphanet PMID:22931260 Assessed uuid:977360d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:399 biolink:causes Orphanet:324294 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:686 infores:orphanet PMID:22850876 Assessed loss_of_function_variant_form uuid:977360d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:56978 biolink:causes Orphanet:324290 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13993 infores:orphanet PMID:22961547 Assessed uuid:977360da-d8a7-11f1-ae73-e4fade41113c NCBIGene:2911 biolink:causes Orphanet:324262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4593 infores:orphanet PMID:22901947 Assessed uuid:977360db-d8a7-11f1-ae73-e4fade41113c NCBIGene:4508 biolink:causes Orphanet:320360 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7414 infores:orphanet PMID:20656066 Assessed uuid:977360dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:83636 biolink:causes Orphanet:320370 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25443 infores:orphanet PMID:23857908 Assessed uuid:977360dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:23259 biolink:causes Orphanet:320380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29106 infores:orphanet PMID:23176823 Assessed uuid:977360de-d8a7-11f1-ae73-e4fade41113c NCBIGene:91574 biolink:causes Orphanet:320375 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26784 infores:orphanet PMID:23188110 Assessed uuid:977360df-d8a7-11f1-ae73-e4fade41113c NCBIGene:57704 biolink:causes Orphanet:320391 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18986 infores:orphanet PMID:23332916 Assessed loss_of_function_variant_form uuid:977360e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:9895 biolink:causes Orphanet:320385 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19957 infores:orphanet PMID:23176824 Assessed uuid:977360e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:57165 biolink:causes Orphanet:320401 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17494 infores:orphanet PMID:19056803 Assessed uuid:977360e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:22978 biolink:causes Orphanet:320396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8022 infores:orphanet PMID:24482476 Assessed uuid:977360e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:113612 biolink:causes Orphanet:320411 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20582 infores:orphanet PMID:23176821 Assessed uuid:977360e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:23769 biolink:causes Orphanet:320406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3760 infores:orphanet PMID:24482476 Assessed uuid:977360e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:64837 biolink:causes Orphanet:320406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:20716 infores:orphanet PMID:26385635 Assessed gain_of_function_variant_form uuid:977360e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3460 biolink:causes Orphanet:319547 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5440 infores:orphanet Assessed uuid:977360e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10667 biolink:causes Orphanet:319519 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21062 infores:orphanet PMID:22499341 Assessed uuid:977360e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:123263 biolink:causes Orphanet:319524 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29666 infores:orphanet PMID:21907147 Assessed uuid:977360e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:11222 biolink:causes Orphanet:319509 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10379 infores:orphanet PMID:21786366 Assessed uuid:977360ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:87178 biolink:causes Orphanet:319514 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23166 infores:orphanet PMID:23084291 Assessed uuid:977360eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3460 biolink:causes Orphanet:319589 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5440 infores:orphanet Assessed uuid:977360ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:6772 biolink:causes Orphanet:319595 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11362 infores:orphanet Assessed uuid:977360ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:3460 biolink:causes Orphanet:319574 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5440 infores:orphanet Assessed uuid:977360ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:3459 biolink:causes Orphanet:319581 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5439 infores:orphanet Assessed uuid:977360ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:9636 biolink:causes Orphanet:319563 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4053 infores:orphanet PMID:22859821 Assessed uuid:977360f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3459 biolink:causes Orphanet:319569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5439 infores:orphanet Assessed uuid:977360f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3594 biolink:causes Orphanet:319552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5971 infores:orphanet Assessed uuid:977360f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3593 biolink:causes Orphanet:319558 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5970 infores:orphanet Assessed uuid:977360f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1719 biolink:causes Orphanet:319651 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2861 infores:orphanet PMID:21310276|PMID:21310277 Assessed uuid:977360f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5236 biolink:causes Orphanet:319646 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8905 infores:orphanet PMID:22492991|PMID:24499211|PMID:19625727 Assessed uuid:977360f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:8842 biolink:causes Orphanet:319640 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9454 infores:orphanet PMID:20393116 Assessed uuid:977360f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10457 biolink:causes Orphanet:319635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4462 infores:orphanet PMID:29336782 Assessed loss_of_function_variant_form uuid:977360f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1536 biolink:causes Orphanet:319605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2578 infores:orphanet PMID:21278736 Assessed uuid:977360f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3394 biolink:causes Orphanet:319600 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5358 infores:orphanet Assessed uuid:977360f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:57017 biolink:causes Orphanet:319678 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25302 infores:orphanet PMID:19375058 Assessed uuid:977360fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:10229 biolink:causes Orphanet:319678 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2244 infores:orphanet PMID:31240163|PMID:28409910|PMID:26084283 Assessed loss_of_function_variant_form uuid:977360fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:51199 biolink:causes Orphanet:319675 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14906 infores:orphanet PMID:22933543 Assessed uuid:977360fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:51574 biolink:causes Orphanet:319671 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24912 infores:orphanet PMID:22865833 Assessed loss_of_function_variant_form uuid:977360fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:4233 biolink:causes Orphanet:319298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7029 infores:orphanet PMID:26536169 Assessed uuid:977360fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:4286 biolink:contributes_to Orphanet:319298 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7105 infores:orphanet PMID:22012259 Assessed uuid:977360ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:6927 biolink:gene_associated_with_condition Orphanet:319303 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:11621 infores:orphanet PMID:8620471|PMID:15649945 Not yet assessed uuid:97736100-d8a7-11f1-ae73-e4fade41113c NCBIGene:5546 biolink:gene_associated_with_condition Orphanet:319308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9343 infores:orphanet PMID:8872474|PMID:22207547|PMID:20073616 Assessed uuid:97736101-d8a7-11f1-ae73-e4fade41113c NCBIGene:7030 biolink:gene_associated_with_condition Orphanet:319308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11752 infores:orphanet PMID:23426439|PMID:22207547 Assessed uuid:97736102-d8a7-11f1-ae73-e4fade41113c NCBIGene:79058 biolink:gene_associated_with_condition Orphanet:319308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:13825 infores:orphanet PMID:15992428|PMID:22207547|PMID:20073616 Assessed uuid:97736103-d8a7-11f1-ae73-e4fade41113c NCBIGene:7942 biolink:gene_associated_with_condition Orphanet:319308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11753 infores:orphanet PMID:12837690|PMID:23426439 Assessed uuid:97736104-d8a7-11f1-ae73-e4fade41113c NCBIGene:1213 biolink:gene_associated_with_condition Orphanet:319308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2092 infores:orphanet PMID:12917640|PMID:20073616 Assessed uuid:97736105-d8a7-11f1-ae73-e4fade41113c NCBIGene:6421 biolink:gene_associated_with_condition Orphanet:319308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10774 infores:orphanet PMID:9393982|PMID:20073616 Assessed uuid:97736106-d8a7-11f1-ae73-e4fade41113c NCBIGene:4841 biolink:gene_associated_with_condition Orphanet:319308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7871 infores:orphanet PMID:9393982|PMID:20073616 Assessed uuid:97736107-d8a7-11f1-ae73-e4fade41113c NCBIGene:23345 biolink:causes Orphanet:319332 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17089 infores:orphanet PMID:19542096 Assessed uuid:97736108-d8a7-11f1-ae73-e4fade41113c NCBIGene:4626 biolink:causes Orphanet:319340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7578 infores:orphanet PMID:15282353 Assessed uuid:97736109-d8a7-11f1-ae73-e4fade41113c NCBIGene:2304 biolink:causes Orphanet:319487 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3806 infores:orphanet PMID:25381600 Assessed uuid:978330d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3026 biolink:causes Orphanet:319487 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4798 infores:orphanet PMID:26222560 Assessed uuid:978330d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:9562 biolink:gene_associated_with_condition Orphanet:319487 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7102 infores:orphanet PMID:11297621 Not yet assessed uuid:978330d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1050 biolink:causes Orphanet:319480 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1833 infores:orphanet PMID:19357394|PMID:22649106 Assessed uuid:978330d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:57505 biolink:causes Orphanet:319504 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21022 infores:orphanet PMID:21549344 Assessed uuid:978330d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1050 biolink:causes Orphanet:319465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1833 infores:orphanet PMID:22649106 Assessed uuid:978330d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:343641 biolink:causes Orphanet:319465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16255 infores:orphanet PMID:24755948 Assessed uuid:978330d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:375748 biolink:causes Orphanet:319465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26922 infores:orphanet PMID:30936069 Assessed uuid:978330d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:causes Orphanet:319462 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1101 infores:orphanet PMID:15689453|PMID:16825431|PMID:14670928 Assessed uuid:978330da-d8a7-11f1-ae73-e4fade41113c NCBIGene:137492 biolink:causes Orphanet:319199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24928 infores:orphanet PMID:22717650 Assessed uuid:978330db-d8a7-11f1-ae73-e4fade41113c NCBIGene:124093 biolink:causes Orphanet:319160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14153 infores:orphanet PMID:22818856 Assessed uuid:978330dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:8996 biolink:causes Orphanet:319189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7869 infores:orphanet PMID:22926851 Assessed uuid:978330dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:51294 biolink:causes Orphanet:319192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8657 infores:orphanet PMID:30178464 Assessed uuid:978330de-d8a7-11f1-ae73-e4fade41113c NCBIGene:170825 biolink:causes Orphanet:319192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24959 infores:orphanet PMID:31412107 Assessed uuid:978330df-d8a7-11f1-ae73-e4fade41113c NCBIGene:4297 biolink:causes Orphanet:319182 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7132 infores:orphanet PMID:22795537 Assessed uuid:978330e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:84876 biolink:causes Orphanet:317428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25896 infores:orphanet Assessed uuid:978330e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5591 biolink:causes Orphanet:317425 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9413 infores:orphanet PMID:19823081 Assessed uuid:978330e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6786 biolink:causes Orphanet:317430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11386 infores:orphanet Assessed uuid:978330e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:10320 biolink:causes Orphanet:317473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13176 infores:orphanet PMID:21548011|PMID:26981933 Assessed uuid:978330e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:84061 biolink:causes Orphanet:317476 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28880 infores:orphanet Assessed uuid:978330e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1589 biolink:causes Orphanet:315311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2600 infores:orphanet Assessed uuid:978330e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1589 biolink:causes Orphanet:315306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2600 infores:orphanet Assessed uuid:978330e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:492 biolink:causes Orphanet:314978 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:816 infores:orphanet Assessed uuid:978330e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:gene_associated_with_condition Orphanet:314950 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3688 infores:orphanet PMID:22460074|PMID:24577808 Assessed uuid:978330e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:81608 biolink:gene_associated_with_condition Orphanet:314950 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:19124 infores:orphanet PMID:22460074|PMID:24577808 Assessed uuid:978330ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:5156 biolink:gene_associated_with_condition Orphanet:314950 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8803 infores:orphanet PMID:22460074|PMID:24577808 Assessed uuid:978330eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5159 biolink:gene_associated_with_condition Orphanet:314950 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8804 infores:orphanet PMID:22460074|PMID:24577808 Assessed uuid:978330ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:2120 biolink:gene_associated_with_condition Orphanet:314950 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3495 infores:orphanet PMID:22460074|PMID:24577808 Assessed uuid:978330ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:443 biolink:causes Orphanet:314918 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:756 infores:orphanet PMID:20301412|PMID:21625469 Assessed loss_of_function_variant_form uuid:978330ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:443 biolink:causes Orphanet:314911 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:756 infores:orphanet PMID:20301412|PMID:21625469 Assessed loss_of_function_variant_form uuid:978330ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:8642 biolink:causes Orphanet:314679 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13681 infores:orphanet PMID:24056717 Assessed uuid:978330f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:79633 biolink:causes Orphanet:314679 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23109 infores:orphanet PMID:24056717 Assessed uuid:978330f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:55858 biolink:causes Orphanet:314667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30760 infores:orphanet PMID:22683087 Assessed uuid:978330f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6789 biolink:causes Orphanet:314689 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11408 infores:orphanet PMID:22294732|PMID:22174160 Assessed uuid:978330f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:567 biolink:causes Orphanet:314652 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:914 infores:orphanet PMID:22693999 Assessed uuid:978330f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:23261 biolink:causes Orphanet:314647 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18806 infores:orphanet PMID:22693284 Assessed loss_of_function_variant_form uuid:978330f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5457 biolink:causes Orphanet:314647 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9218 infores:orphanet PMID:33783914 Assessed loss_of_function_variant_form uuid:978330f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:314662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:22729222 Assessed uuid:978330f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5813 biolink:gene_associated_with_condition Orphanet:314655 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9701 infores:orphanet PMID:23950017 Assessed uuid:978330f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2896 biolink:causes Orphanet:314629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4601 infores:orphanet PMID:32412666|PMID:34733232|PMID:34684815 Assessed uuid:978330f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:25821 biolink:causes Orphanet:314637 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19261 infores:orphanet Assessed uuid:978330fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:23400 biolink:causes Orphanet:314632 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30213 infores:orphanet PMID:22388936 Assessed uuid:978330fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:2690 biolink:causes Orphanet:314802 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4263 infores:orphanet Assessed uuid:978330fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2693 biolink:causes Orphanet:314811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4267 infores:orphanet Assessed uuid:978330fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:64072 biolink:contributes_to Orphanet:314777 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:13733 infores:orphanet PMID:28413019 Assessed uuid:978330fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:9049 biolink:causes Orphanet:314777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:358 infores:orphanet PMID:22720333 Assessed uuid:978330ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:4221 biolink:contributes_to Orphanet:314786 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7010 infores:orphanet PMID:23321498 Assessed uuid:97833100-d8a7-11f1-ae73-e4fade41113c NCBIGene:9049 biolink:contributes_to Orphanet:314786 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:358 infores:orphanet PMID:23321498 Assessed uuid:97833101-d8a7-11f1-ae73-e4fade41113c NCBIGene:4221 biolink:contributes_to Orphanet:314790 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7010 infores:orphanet PMID:23321498 Assessed uuid:97833102-d8a7-11f1-ae73-e4fade41113c NCBIGene:9049 biolink:contributes_to Orphanet:314790 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:358 infores:orphanet PMID:23321498 Assessed uuid:97833103-d8a7-11f1-ae73-e4fade41113c NCBIGene:6473 biolink:causes Orphanet:314795 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10853 infores:orphanet PMID:26698168 Assessed uuid:97833104-d8a7-11f1-ae73-e4fade41113c NCBIGene:30008 biolink:causes Orphanet:314718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3219 infores:orphanet PMID:22943132 Assessed uuid:97833105-d8a7-11f1-ae73-e4fade41113c NCBIGene:64094 biolink:causes Orphanet:314721 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20323 infores:orphanet PMID:22152679 Assessed uuid:97833106-d8a7-11f1-ae73-e4fade41113c NCBIGene:472 biolink:causes Orphanet:370109 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:795 infores:orphanet PMID:23946315 Assessed loss_of_function_variant_form uuid:97833107-d8a7-11f1-ae73-e4fade41113c NCBIGene:283652 biolink:causes Orphanet:370097 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20611 infores:orphanet PMID:23364476 Assessed uuid:97833108-d8a7-11f1-ae73-e4fade41113c NCBIGene:6597 biolink:causes Orphanet:370396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11100 infores:orphanet PMID:24658002|PMID:24658004|PMID:24658001 Assessed uuid:97833109-d8a7-11f1-ae73-e4fade41113c NCBIGene:2313 biolink:gene_associated_with_condition Orphanet:370348 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3749 infores:orphanet PMID:7506981|PMID:8644855 Assessed uuid:9783310a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2078 biolink:gene_associated_with_condition Orphanet:370334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3446 infores:orphanet PMID:11823984 Assessed uuid:9783310b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2130 biolink:gene_associated_with_condition Orphanet:370334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3508 infores:orphanet PMID:21113140 Assessed uuid:9783310c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2313 biolink:gene_associated_with_condition Orphanet:370334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3749 infores:orphanet PMID:9072004|PMID:18769338|PMID:16517542|PMID:11570916 Assessed uuid:9783310d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8467 biolink:gene_associated_with_condition Orphanet:370334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11101 infores:orphanet PMID:21113140 Assessed uuid:9783310e-d8a7-11f1-ae73-e4fade41113c NCBIGene:284217 biolink:causes Orphanet:370022 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6481 infores:orphanet PMID:25105227 Assessed loss_of_function_variant_form uuid:9783310f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1387 biolink:gene_associated_with_condition Orphanet:370026 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2348 infores:orphanet PMID:23974201|PMID:18698081 Assessed uuid:97833110-d8a7-11f1-ae73-e4fade41113c NCBIGene:7994 biolink:gene_associated_with_condition Orphanet:370026 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:13013 infores:orphanet PMID:23974201|PMID:18698081 Assessed uuid:97833111-d8a7-11f1-ae73-e4fade41113c NCBIGene:6137 biolink:causes Orphanet:370015 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10303 infores:orphanet PMID:31630789 Assessed loss_of_function_variant_form uuid:97833112-d8a7-11f1-ae73-e4fade41113c NCBIGene:51520 biolink:causes Orphanet:370088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6512 infores:orphanet PMID:22607940 Assessed uuid:97833113-d8a7-11f1-ae73-e4fade41113c NCBIGene:1605 biolink:causes Orphanet:370997 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2666 infores:orphanet PMID:24052401 Assessed uuid:97833114-d8a7-11f1-ae73-e4fade41113c NCBIGene:3703 biolink:causes Orphanet:370921 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6172 infores:orphanet PMID:23842455 Assessed uuid:97833115-d8a7-11f1-ae73-e4fade41113c NCBIGene:201595 biolink:causes Orphanet:370924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30611 infores:orphanet PMID:23842455 Assessed uuid:97833116-d8a7-11f1-ae73-e4fade41113c NCBIGene:6748 biolink:causes Orphanet:370927 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11326 infores:orphanet PMID:24218363 Assessed uuid:97833117-d8a7-11f1-ae73-e4fade41113c NCBIGene:64131 biolink:causes Orphanet:370930 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15516 infores:orphanet PMID:23982343 Assessed loss_of_function_variant_form uuid:97833118-d8a7-11f1-ae73-e4fade41113c NCBIGene:55624 biolink:causes Orphanet:370959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19139 infores:orphanet PMID:21397493 Assessed uuid:97833119-d8a7-11f1-ae73-e4fade41113c NCBIGene:10585 biolink:causes Orphanet:370959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9202 infores:orphanet PMID:21397493 Assessed uuid:9783311a-d8a7-11f1-ae73-e4fade41113c NCBIGene:29954 biolink:causes Orphanet:370959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19743 infores:orphanet PMID:21397493 Assessed uuid:9783311b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79147 biolink:causes Orphanet:370959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17997 infores:orphanet PMID:21397493 Assessed uuid:9783311c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84197 biolink:causes Orphanet:370959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26267 infores:orphanet PMID:24925318 Assessed loss_of_function_variant_form uuid:9783311d-d8a7-11f1-ae73-e4fade41113c NCBIGene:29925 biolink:causes Orphanet:370959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22932 infores:orphanet PMID:23768512|PMID:21397493 Assessed uuid:9783311e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10585 biolink:causes Orphanet:370968 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9202 infores:orphanet PMID:21397493 Assessed uuid:9783311f-d8a7-11f1-ae73-e4fade41113c NCBIGene:29954 biolink:causes Orphanet:370968 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19743 infores:orphanet PMID:21397493 Assessed uuid:97833120-d8a7-11f1-ae73-e4fade41113c NCBIGene:79147 biolink:causes Orphanet:370968 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17997 infores:orphanet PMID:21397493 Assessed uuid:97833121-d8a7-11f1-ae73-e4fade41113c NCBIGene:9215 biolink:causes Orphanet:370968 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6511 infores:orphanet PMID:21397493 Assessed uuid:97833122-d8a7-11f1-ae73-e4fade41113c NCBIGene:29925 biolink:causes Orphanet:370968 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22932 infores:orphanet PMID:23768512|PMID:21397493 Assessed uuid:97833123-d8a7-11f1-ae73-e4fade41113c NCBIGene:10585 biolink:causes Orphanet:370980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9202 infores:orphanet PMID:21397493 Assessed uuid:97833124-d8a7-11f1-ae73-e4fade41113c NCBIGene:2218 biolink:causes Orphanet:370980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3622 infores:orphanet PMID:21397493 Assessed uuid:97833125-d8a7-11f1-ae73-e4fade41113c NCBIGene:79147 biolink:causes Orphanet:370980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17997 infores:orphanet PMID:21397493 Assessed uuid:97833126-d8a7-11f1-ae73-e4fade41113c NCBIGene:729920 biolink:causes Orphanet:370980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:37276 infores:orphanet PMID:23288328 Assessed loss_of_function_variant_form uuid:97833127-d8a7-11f1-ae73-e4fade41113c NCBIGene:8869 biolink:causes Orphanet:370933 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10872 infores:orphanet PMID:24026681|PMID:15502825 Assessed loss_of_function_variant_form uuid:97833128-d8a7-11f1-ae73-e4fade41113c NCBIGene:23443 biolink:causes Orphanet:370943 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11023 infores:orphanet PMID:24031089 Assessed uuid:97833129-d8a7-11f1-ae73-e4fade41113c NCBIGene:776 biolink:causes Orphanet:369929 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1391 infores:orphanet PMID:23913001 Assessed gain_of_function_variant_form uuid:9783312a-d8a7-11f1-ae73-e4fade41113c NCBIGene:271 biolink:causes Orphanet:369920 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:469 infores:orphanet PMID:23911318 Assessed loss_of_function_variant_form uuid:9783312b-d8a7-11f1-ae73-e4fade41113c NCBIGene:215 biolink:gene_associated_with_condition Orphanet:369942 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:61 infores:orphanet PMID:11992258|PMID:22994209 Assessed uuid:9783312c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10134 biolink:gene_associated_with_condition Orphanet:369942 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:16695 infores:orphanet PMID:22994209 Assessed uuid:9783312d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10134 biolink:causes Orphanet:369939 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16695 infores:orphanet PMID:24011989 Assessed loss_of_function_variant_form uuid:9783312e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5826 biolink:causes Orphanet:369955 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:68 infores:orphanet PMID:22922874 Assessed loss_of_function_variant_form uuid:9783312f-d8a7-11f1-ae73-e4fade41113c NCBIGene:170692 biolink:causes Orphanet:369970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17110 infores:orphanet PMID:23818446 Assessed uuid:97833130-d8a7-11f1-ae73-e4fade41113c NCBIGene:3054 biolink:causes Orphanet:369962 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4839 infores:orphanet PMID:24011988 Assessed uuid:97833131-d8a7-11f1-ae73-e4fade41113c NCBIGene:1828 biolink:causes Orphanet:369992 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3048 infores:orphanet PMID:23974871 Assessed loss_of_function_variant_form uuid:97833132-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:369992 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:26073755 Assessed uuid:97833133-d8a7-11f1-ae73-e4fade41113c NCBIGene:1828 biolink:causes Orphanet:370002 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3048 infores:orphanet PMID:16484817 Assessed uuid:97833134-d8a7-11f1-ae73-e4fade41113c NCBIGene:1828 biolink:causes Orphanet:369999 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3048 infores:orphanet PMID:15897387 Assessed uuid:97833135-d8a7-11f1-ae73-e4fade41113c NCBIGene:51604 biolink:causes Orphanet:369837 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14938 infores:orphanet PMID:23636107 Assessed uuid:97833136-d8a7-11f1-ae73-e4fade41113c NCBIGene:60684 biolink:causes Orphanet:369840 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25751 infores:orphanet PMID:23830518 Assessed uuid:97833137-d8a7-11f1-ae73-e4fade41113c NCBIGene:60684 biolink:causes Orphanet:369847 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25751 infores:orphanet PMID:23830518 Assessed uuid:97833138-d8a7-11f1-ae73-e4fade41113c NCBIGene:11311 biolink:causes Orphanet:369852 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14579 infores:orphanet PMID:23738510 Assessed uuid:97833139-d8a7-11f1-ae73-e4fade41113c NCBIGene:51095 biolink:causes Orphanet:369861 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17341 infores:orphanet PMID:25193871 Assessed loss_of_function_variant_form uuid:9783313a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57449 biolink:causes Orphanet:369867 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29105 infores:orphanet PMID:23844677|PMID:23777631 Assessed uuid:9783313b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6492 biolink:causes Orphanet:369873 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10882 infores:orphanet PMID:23778136|PMID:23778139 Assessed loss_of_function_variant_form uuid:9783313c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9581 biolink:gene_associated_with_condition Orphanet:369881 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:30228 infores:orphanet PMID:23794250 Assessed uuid:9783313d-d8a7-11f1-ae73-e4fade41113c NCBIGene:79823 biolink:gene_associated_with_condition Orphanet:369881 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:26276 infores:orphanet PMID:23794250 Assessed uuid:9783313e-d8a7-11f1-ae73-e4fade41113c NCBIGene:23389 biolink:causes Orphanet:369891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:22962 infores:orphanet PMID:23403903|PMID:25712080 Assessed loss_of_function_variant_form uuid:9783313f-d8a7-11f1-ae73-e4fade41113c NCBIGene:26235 biolink:causes Orphanet:369897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13601 infores:orphanet PMID:23993193|PMID:23993194 Assessed loss_of_function_variant_form uuid:97833140-d8a7-11f1-ae73-e4fade41113c NCBIGene:60528 biolink:causes Orphanet:369913 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14198 infores:orphanet PMID:23849775 Assessed uuid:97833141-d8a7-11f1-ae73-e4fade41113c NCBIGene:170302 biolink:causes Orphanet:364063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18060 infores:orphanet PMID:17664401 Assessed loss_of_function_variant_form uuid:97833142-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:23847139 Assessed uuid:97833143-d8a7-11f1-ae73-e4fade41113c NCBIGene:6121 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10294 infores:orphanet Assessed uuid:97833144-d8a7-11f1-ae73-e4fade41113c NCBIGene:57010 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1386 infores:orphanet PMID:40294858 Assessed uuid:97833145-d8a7-11f1-ae73-e4fade41113c NCBIGene:7840 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:428 infores:orphanet PMID:40294858 Assessed uuid:97833146-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8522 infores:orphanet PMID:40294858 Assessed uuid:97833147-d8a7-11f1-ae73-e4fade41113c NCBIGene:167691 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31923 infores:orphanet PMID:23946133 Assessed uuid:97833148-d8a7-11f1-ae73-e4fade41113c NCBIGene:3769 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6259 infores:orphanet PMID:40294858 Assessed uuid:97833149-d8a7-11f1-ae73-e4fade41113c NCBIGene:9227 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6685 infores:orphanet PMID:22570351 Assessed uuid:9783314a-d8a7-11f1-ae73-e4fade41113c NCBIGene:55812 biolink:causes Orphanet:364055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20423 infores:orphanet PMID:21310915 Assessed uuid:9783314b-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:gene_associated_with_condition Orphanet:364043 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:427 infores:orphanet Not yet assessed uuid:9783314c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2892 biolink:causes Orphanet:364028 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4573 infores:orphanet PMID:17989220 Assessed loss_of_function_variant_form uuid:9783314d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5828 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9717 infores:orphanet Assessed uuid:9783314e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5189 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8850 infores:orphanet Assessed uuid:9783314f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5192 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8851 infores:orphanet Assessed uuid:97833150-d8a7-11f1-ae73-e4fade41113c NCBIGene:5193 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8854 infores:orphanet Assessed uuid:97833151-d8a7-11f1-ae73-e4fade41113c NCBIGene:5194 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8855 infores:orphanet Assessed uuid:97833152-d8a7-11f1-ae73-e4fade41113c NCBIGene:5195 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8856 infores:orphanet Assessed uuid:97833153-d8a7-11f1-ae73-e4fade41113c NCBIGene:9409 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8857 infores:orphanet Assessed uuid:97833154-d8a7-11f1-ae73-e4fade41113c NCBIGene:5824 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9713 infores:orphanet Assessed uuid:97833155-d8a7-11f1-ae73-e4fade41113c NCBIGene:55670 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22965 infores:orphanet Assessed uuid:97833156-d8a7-11f1-ae73-e4fade41113c NCBIGene:8504 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8858 infores:orphanet Assessed uuid:97833157-d8a7-11f1-ae73-e4fade41113c NCBIGene:5830 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9719 infores:orphanet Assessed uuid:97833158-d8a7-11f1-ae73-e4fade41113c NCBIGene:5190 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8859 infores:orphanet Assessed uuid:97833159-d8a7-11f1-ae73-e4fade41113c NCBIGene:8799 biolink:causes Orphanet:772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8853 infores:orphanet Assessed uuid:9783315a-d8a7-11f1-ae73-e4fade41113c NCBIGene:54968 biolink:causes Orphanet:1194 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26050 infores:orphanet PMID:21147908 Assessed uuid:9783315b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55901 biolink:causes Orphanet:363999 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17754 infores:orphanet PMID:30055085 Assessed uuid:9783315c-d8a7-11f1-ae73-e4fade41113c NCBIGene:285 biolink:causes Orphanet:363999 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:485 infores:orphanet PMID:34876502 Assessed loss_of_function_variant_form uuid:9783315d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10203 biolink:causes Orphanet:363999 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16709 infores:orphanet PMID:30115739 Assessed uuid:9783315e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5322 biolink:causes Orphanet:363989 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9038 infores:orphanet PMID:22137173 Assessed uuid:9783315f-d8a7-11f1-ae73-e4fade41113c NCBIGene:170691 biolink:gene_associated_with_condition Orphanet:363992 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:17109 infores:orphanet PMID:23754960 Assessed uuid:97833160-d8a7-11f1-ae73-e4fade41113c NCBIGene:204219 biolink:gene_associated_with_condition Orphanet:363992 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:23752 infores:orphanet PMID:23754960 Assessed uuid:97833161-d8a7-11f1-ae73-e4fade41113c NCBIGene:6305 biolink:causes Orphanet:363981 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10542 infores:orphanet PMID:23749797 Assessed uuid:97833162-d8a7-11f1-ae73-e4fade41113c NCBIGene:56649 biolink:causes Orphanet:363969 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11878 infores:orphanet PMID:23957953 Assessed uuid:97833163-d8a7-11f1-ae73-e4fade41113c NCBIGene:867 biolink:causes Orphanet:363972 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1541 infores:orphanet PMID:20543203|PMID:20619386 Assessed uuid:97833164-d8a7-11f1-ae73-e4fade41113c NCBIGene:284058 biolink:causes Orphanet:363965 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24565 infores:orphanet PMID:22544363|PMID:22544367|PMID:20301783 Assessed loss_of_function_variant_form uuid:97833165-d8a7-11f1-ae73-e4fade41113c NCBIGene:284058 biolink:gene_associated_with_condition Orphanet:363958 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:24565 infores:orphanet PMID:19447831 Assessed uuid:97833166-d8a7-11f1-ae73-e4fade41113c NCBIGene:2623 biolink:causes Orphanet:363727 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4170 infores:orphanet PMID:16783379 Assessed uuid:97833167-d8a7-11f1-ae73-e4fade41113c NCBIGene:2670 biolink:causes Orphanet:363722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4235 infores:orphanet PMID:20301351 Assessed gain_of_function_variant_form uuid:97833168-d8a7-11f1-ae73-e4fade41113c NCBIGene:2670 biolink:causes Orphanet:363717 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4235 infores:orphanet PMID:20301351 Assessed gain_of_function_variant_form uuid:97833169-d8a7-11f1-ae73-e4fade41113c NCBIGene:1600 biolink:causes Orphanet:363710 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2661 infores:orphanet PMID:28686858 Assessed uuid:9783316a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:causes Orphanet:363700 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7765 infores:orphanet PMID:20301288 Assessed loss_of_function_variant_form uuid:9783316b-d8a7-11f1-ae73-e4fade41113c NCBIGene:54938 biolink:causes Orphanet:363694 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17697 infores:orphanet PMID:21255763 Assessed loss_of_function_variant_form uuid:9783316c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57459 biolink:causes Orphanet:363686 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30778 infores:orphanet PMID:23644463 Assessed loss_of_function_variant_form uuid:9783316d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4620 biolink:causes Orphanet:363677 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7572 infores:orphanet PMID:23388406 Assessed loss_of_function_variant_form uuid:9783316e-d8a7-11f1-ae73-e4fade41113c NCBIGene:22856 biolink:causes Orphanet:363417 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17198 infores:orphanet PMID:21129728 Assessed loss_of_function_variant_form uuid:9783316f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1785 biolink:causes Orphanet:363409 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2974 infores:orphanet PMID:23092955 Assessed uuid:97833170-d8a7-11f1-ae73-e4fade41113c NCBIGene:1615 biolink:causes Orphanet:363412 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2678 infores:orphanet PMID:23643384 Assessed uuid:97833171-d8a7-11f1-ae73-e4fade41113c NCBIGene:2895 biolink:causes Orphanet:363432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4576 infores:orphanet PMID:23611888 Assessed loss_of_function_variant_form uuid:97833172-d8a7-11f1-ae73-e4fade41113c NCBIGene:200205 biolink:causes Orphanet:363424 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27302 infores:orphanet PMID:23462291 Assessed uuid:97833173-d8a7-11f1-ae73-e4fade41113c NCBIGene:84189 biolink:causes Orphanet:363396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23503 infores:orphanet PMID:23543054 Assessed loss_of_function_variant_form uuid:97833174-d8a7-11f1-ae73-e4fade41113c NCBIGene:26580 biolink:causes Orphanet:363400 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15832 infores:orphanet PMID:23564749 Assessed uuid:97833175-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:363618 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:23666920 Assessed uuid:97833176-d8a7-11f1-ae73-e4fade41113c NCBIGene:29925 biolink:causes Orphanet:363623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22932 infores:orphanet PMID:23768512 Assessed uuid:97833177-d8a7-11f1-ae73-e4fade41113c NCBIGene:5424 biolink:causes Orphanet:363649 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9175 infores:orphanet PMID:23770608 Assessed uuid:97833178-d8a7-11f1-ae73-e4fade41113c NCBIGene:10159 biolink:causes Orphanet:363654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18305 infores:orphanet PMID:23595882 Assessed uuid:97833179-d8a7-11f1-ae73-e4fade41113c NCBIGene:5159 biolink:causes Orphanet:363665 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:8804 infores:orphanet PMID:26279204 Assessed gain_of_function_variant_form uuid:9783317a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1181 biolink:causes Orphanet:363540 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2020 infores:orphanet PMID:23707145 Assessed loss_of_function_variant_form uuid:9783317b-d8a7-11f1-ae73-e4fade41113c NCBIGene:135 biolink:contributes_to Orphanet:363549 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:263 infores:orphanet PMID:23535492 Assessed uuid:9783317c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10664 biolink:causes Orphanet:363611 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13723 infores:orphanet PMID:23746550 Assessed uuid:9783317d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4254 biolink:contributes_to Orphanet:363494 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6343 infores:orphanet PMID:19483682|PMID:20228134|PMID:23640991 Assessed uuid:9783317e-d8a7-11f1-ae73-e4fade41113c NCBIGene:81848 biolink:contributes_to Orphanet:363494 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15533 infores:orphanet PMID:19483682|PMID:23640991 Assessed uuid:9783317f-d8a7-11f1-ae73-e4fade41113c NCBIGene:57511 biolink:causes Orphanet:363523 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18621 infores:orphanet PMID:23606727 Assessed uuid:97833180-d8a7-11f1-ae73-e4fade41113c NCBIGene:56652 biolink:causes Orphanet:363534 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1160 infores:orphanet PMID:23375728 Assessed uuid:97833181-d8a7-11f1-ae73-e4fade41113c NCBIGene:113179 biolink:causes Orphanet:363528 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25151 infores:orphanet PMID:23620220 Assessed uuid:97833182-d8a7-11f1-ae73-e4fade41113c NCBIGene:79228 biolink:causes Orphanet:363444 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28369 infores:orphanet PMID:23621916 Assessed loss_of_function_variant_form uuid:97833183-d8a7-11f1-ae73-e4fade41113c NCBIGene:23299 biolink:causes Orphanet:363454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17208 infores:orphanet PMID:23664119 Assessed uuid:97833184-d8a7-11f1-ae73-e4fade41113c NCBIGene:50615 biolink:causes Orphanet:357329 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6006 infores:orphanet PMID:23440042 Assessed loss_of_function_variant_form uuid:97833185-d8a7-11f1-ae73-e4fade41113c NCBIGene:84433 biolink:causes Orphanet:357237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16393 infores:orphanet PMID:23561803|PMID:23374270 Assessed loss_of_function_variant_form uuid:97833186-d8a7-11f1-ae73-e4fade41113c NCBIGene:6576 biolink:causes Orphanet:356978 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10979 infores:orphanet PMID:23561848|PMID:23393310 Assessed uuid:97833187-d8a7-11f1-ae73-e4fade41113c NCBIGene:7355 biolink:causes Orphanet:356961 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11022 infores:orphanet PMID:23561849 Assessed uuid:97833188-d8a7-11f1-ae73-e4fade41113c NCBIGene:8526 biolink:causes Orphanet:357008 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2852 infores:orphanet PMID:23542698|PMID:20301541 Assessed loss_of_function_variant_form uuid:97833189-d8a7-11f1-ae73-e4fade41113c NCBIGene:288 biolink:causes Orphanet:356996 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:494 infores:orphanet PMID:23390136 Assessed uuid:9783318a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23064 biolink:causes Orphanet:357043 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:445 infores:orphanet PMID:15106121|PMID:15478096 Assessed uuid:9783318b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5925 biolink:causes Orphanet:357034 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9884 infores:orphanet PMID:23498719|PMID:23498780|PMID:16934146 Assessed uuid:9783318c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4613 biolink:gene_associated_with_condition Orphanet:357034 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7559 infores:orphanet PMID:23498719|PMID:23498720 Not yet assessed uuid:9783318d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5925 biolink:causes Orphanet:357027 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9884 infores:orphanet PMID:20301625|PMID:23498719|PMID:23498780|PMID:16934146 Assessed loss_of_function_variant_form uuid:9783318e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4613 biolink:gene_associated_with_condition Orphanet:357027 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7559 infores:orphanet PMID:23498719|PMID:23498720 Not yet assessed uuid:9783318f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23545 biolink:causes Orphanet:357074 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18481 infores:orphanet PMID:20301755|PMID:19321599|PMID:18157129 Assessed loss_of_function_variant_form uuid:97833190-d8a7-11f1-ae73-e4fade41113c NCBIGene:529 biolink:causes Orphanet:357074 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:857 infores:orphanet PMID:28065471 Assessed uuid:97833191-d8a7-11f1-ae73-e4fade41113c NCBIGene:523 biolink:causes Orphanet:357074 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:851 infores:orphanet PMID:28065471 Assessed uuid:97833192-d8a7-11f1-ae73-e4fade41113c NCBIGene:5831 biolink:causes Orphanet:357064 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9721 infores:orphanet PMID:19576563 Assessed loss_of_function_variant_form uuid:97833193-d8a7-11f1-ae73-e4fade41113c NCBIGene:7345 biolink:causes Orphanet:352654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12513 infores:orphanet PMID:23359680 Assessed loss_of_function_variant_form uuid:97833194-d8a7-11f1-ae73-e4fade41113c NCBIGene:22861 biolink:causes Orphanet:352662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14374 infores:orphanet PMID:23349227 Assessed uuid:97833195-d8a7-11f1-ae73-e4fade41113c NCBIGene:57704 biolink:causes Orphanet:352641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18986 infores:orphanet PMID:23332917 Assessed loss_of_function_variant_form uuid:97833196-d8a7-11f1-ae73-e4fade41113c NCBIGene:6571 biolink:causes Orphanet:352649 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10935 infores:orphanet PMID:23363473 Assessed loss_of_function_variant_form uuid:97833197-d8a7-11f1-ae73-e4fade41113c NCBIGene:57465 biolink:causes Orphanet:352596 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29203 infores:orphanet PMID:21087195|PMID:23343562 Assessed loss_of_function_variant_form uuid:97833198-d8a7-11f1-ae73-e4fade41113c NCBIGene:80816 biolink:causes Orphanet:352577 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29357 infores:orphanet PMID:23383720 Assessed loss_of_function_variant_form uuid:97833199-d8a7-11f1-ae73-e4fade41113c NCBIGene:57465 biolink:causes Orphanet:352587 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29203 infores:orphanet PMID:23517570 Assessed uuid:9783319a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7299 biolink:causes Orphanet:352734 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12442 infores:orphanet PMID:20301345 Assessed loss_of_function_variant_form uuid:9783319b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7299 biolink:causes Orphanet:352737 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12442 infores:orphanet PMID:20301345 Assessed loss_of_function_variant_form uuid:9783319c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8722 biolink:causes Orphanet:352709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2531 infores:orphanet PMID:21990111|PMID:22778232 Assessed uuid:9783319d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5426 biolink:causes Orphanet:352712 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9177 infores:orphanet PMID:23230001 Assessed uuid:9783319e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5950 biolink:causes Orphanet:352718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9922 infores:orphanet PMID:23189188 Assessed loss_of_function_variant_form uuid:9783319f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1130 biolink:causes Orphanet:352723 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1968 infores:orphanet PMID:23521865 Assessed uuid:978331a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3190 biolink:gene_associated_with_condition Orphanet:352665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5044 infores:orphanet PMID:26173930|PMID:24501764|PMID:25348648 Assessed uuid:978331a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:59345 biolink:causes Orphanet:352670 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20731 infores:orphanet PMID:23434117 Assessed uuid:978331a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5165 biolink:causes Orphanet:352675 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:8811 infores:orphanet PMID:23297365 Assessed gain_of_function_variant_form uuid:978331a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:160418 biolink:causes Orphanet:352682 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26899 infores:orphanet PMID:27773428|PMID:28973161|PMID:33293961 Assessed uuid:978331a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3912 biolink:causes Orphanet:352682 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6486 infores:orphanet PMID:23472759 Assessed uuid:978331a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1387 biolink:causes Orphanet:353277 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2348 infores:orphanet PMID:20301699 Assessed uuid:978331a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:9180 biolink:causes Orphanet:353220 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8507 infores:orphanet PMID:20507362 Assessed uuid:978331a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:133396 biolink:causes Orphanet:353220 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18969 infores:orphanet PMID:19690585 Assessed uuid:978331a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8604 biolink:causes Orphanet:353217 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10982 infores:orphanet PMID:19641205 Assessed uuid:978331a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:83938 biolink:causes Orphanet:352745 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23405 infores:orphanet PMID:23395477 Assessed uuid:978331aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:5091 biolink:causes Orphanet:353320 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8636 infores:orphanet PMID:20301764 Assessed uuid:978331ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:85365 biolink:causes Orphanet:353327 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23159 infores:orphanet PMID:23404334 Assessed uuid:978331ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:1798 biolink:causes Orphanet:353327 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2995 infores:orphanet PMID:23404334|PMID:22742743 Assessed uuid:978331ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:2673 biolink:causes Orphanet:353327 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4241 infores:orphanet PMID:23404334|PMID:21310273 Assessed uuid:978331ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:199857 biolink:causes Orphanet:353327 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28287 infores:orphanet PMID:23404334 Assessed uuid:978331af-d8a7-11f1-ae73-e4fade41113c NCBIGene:29925 biolink:causes Orphanet:353327 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22932 infores:orphanet PMID:26133662 Assessed uuid:978331b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5091 biolink:causes Orphanet:353308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8636 infores:orphanet PMID:20301764 Assessed uuid:978331b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5091 biolink:causes Orphanet:353314 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8636 infores:orphanet PMID:20301764 Assessed uuid:978331b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:100151683 biolink:causes Orphanet:353298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:34016 infores:orphanet PMID:26522830 Assessed uuid:978331b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1387 biolink:gene_associated_with_condition Orphanet:353281 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2348 infores:orphanet PMID:20301699 Assessed uuid:978331b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2033 biolink:causes Orphanet:353284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3373 infores:orphanet PMID:20301699 Assessed loss_of_function_variant_form uuid:978331b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6712 biolink:causes Orphanet:352403 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11276 infores:orphanet PMID:23236289 Assessed loss_of_function_variant_form uuid:978331b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6785 biolink:causes Orphanet:352333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14415 infores:orphanet PMID:22100072 Assessed uuid:978331b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:84947 biolink:causes Orphanet:352328 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21061 infores:orphanet PMID:22683713 Assessed uuid:978331b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:92667 biolink:causes Orphanet:352447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16205 infores:orphanet PMID:23313956 Assessed loss_of_function_variant_form uuid:978331b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:83696 biolink:causes Orphanet:352530 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30832 infores:orphanet PMID:22549410 Assessed loss_of_function_variant_form uuid:978331ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:65080 biolink:causes Orphanet:352563 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16650 infores:orphanet PMID:23315540 Assessed uuid:978331bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:729920 biolink:causes Orphanet:352479 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:37276 infores:orphanet PMID:23288328 Assessed loss_of_function_variant_form uuid:978331bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1763 biolink:causes Orphanet:352470 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2939 infores:orphanet PMID:23352259 Assessed uuid:978331bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:26053 biolink:causes Orphanet:352490 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14262 infores:orphanet PMID:23332918 Assessed uuid:978331be-d8a7-11f1-ae73-e4fade41113c NCBIGene:27031 biolink:causes Orphanet:294415 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7907 infores:orphanet PMID:20007846|PMID:18371931 Assessed loss_of_function_variant_form uuid:978331bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:284086 biolink:causes Orphanet:294415 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13387 infores:orphanet PMID:23418306 Assessed loss_of_function_variant_form uuid:978331c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:10617 biolink:causes Orphanet:294016 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16950 infores:orphanet PMID:23542699 Assessed uuid:978331c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6868 biolink:causes Orphanet:294023 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:195 infores:orphanet PMID:22010916 Assessed loss_of_function_variant_form uuid:978331c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:208 biolink:causes Orphanet:293964 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:392 infores:orphanet PMID:21979934|PMID:24285683 Assessed gain_of_function_variant_form uuid:978331c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4791 biolink:causes Orphanet:293978 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:7795 infores:orphanet PMID:25524009|PMID:24140114 Assessed gain_of_function_variant_form uuid:978331c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:27010 biolink:causes Orphanet:293955 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17358 infores:orphanet PMID:22152682 Assessed loss_of_function_variant_form uuid:978331c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1806 biolink:gene_associated_with_condition Orphanet:293948 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3012 infores:orphanet PMID:22003227|PMID:21114665 Assessed uuid:978331c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:406960 biolink:causes Orphanet:293936 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31555 infores:orphanet PMID:21996275 Assessed uuid:978331c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:56603 biolink:causes Orphanet:293925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20581 infores:orphanet PMID:22019272 Assessed loss_of_function_variant_form uuid:978331c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5318 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9024 infores:orphanet PMID:20301310 Assessed uuid:978331c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7043 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11769 infores:orphanet PMID:20301310 Assessed uuid:978331ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12403 infores:orphanet PMID:21810661 Assessed uuid:978331cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1824 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3036 infores:orphanet PMID:20301310 Assessed uuid:978331cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1829 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3049 infores:orphanet PMID:20301310 Assessed uuid:978331cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:20301310 Assessed uuid:978331ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:3728 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6207 infores:orphanet PMID:20301310 Assessed uuid:978331cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:11155 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15710 infores:orphanet PMID:25041374 Assessed uuid:978331d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:gene_associated_with_condition Orphanet:293910 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:23736219|PMID:22199124 Not yet assessed uuid:978331d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:79188 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28472 infores:orphanet PMID:20301310 Assessed loss_of_function_variant_form uuid:978331d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5350 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9080 infores:orphanet PMID:25820315 Assessed uuid:978331d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:29119 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2511 infores:orphanet PMID:23136403 Assessed uuid:978331d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1000 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1759 infores:orphanet PMID:28280076 Assessed uuid:978331d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:30851 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30684 infores:orphanet PMID:39963794 Assessed uuid:978331d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2318 biolink:causes Orphanet:293910 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3756 infores:orphanet PMID:31924696 Assessed uuid:978331d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5318 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9024 infores:orphanet PMID:20301310 Assessed uuid:978331d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7043 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11769 infores:orphanet PMID:20301310 Assessed uuid:978331d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12403 infores:orphanet PMID:21810661 Assessed loss_of_function_variant_form uuid:978331da-d8a7-11f1-ae73-e4fade41113c NCBIGene:1824 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3036 infores:orphanet PMID:20301310 Assessed uuid:978331db-d8a7-11f1-ae73-e4fade41113c NCBIGene:1829 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3049 infores:orphanet PMID:20301310 Assessed uuid:978331dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:20301310 Assessed uuid:978331dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:3728 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6207 infores:orphanet PMID:20301310 Assessed uuid:978331de-d8a7-11f1-ae73-e4fade41113c NCBIGene:11155 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15710 infores:orphanet PMID:25041374 Assessed uuid:978331df-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:gene_associated_with_condition Orphanet:293899 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:23736219|PMID:22199124 Not yet assessed uuid:978331e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:79188 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28472 infores:orphanet PMID:20301310 Assessed loss_of_function_variant_form uuid:978331e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:29119 biolink:causes Orphanet:293899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2511 infores:orphanet PMID:23136403 Assessed uuid:978331e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5318 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9024 infores:orphanet PMID:20301310 Assessed uuid:978331e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7043 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11769 infores:orphanet PMID:20301310 Assessed uuid:978331e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12403 infores:orphanet PMID:21810661 Assessed loss_of_function_variant_form uuid:978331e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1824 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3036 infores:orphanet PMID:20301310 Assessed uuid:978331e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1829 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3049 infores:orphanet PMID:20301310 Assessed uuid:978331e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:20301310 Assessed uuid:978331e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3728 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6207 infores:orphanet PMID:20301310 Assessed uuid:978331e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:11155 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15710 infores:orphanet PMID:25041374 Assessed uuid:978331ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:gene_associated_with_condition Orphanet:293888 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:23736219|PMID:22199124 Not yet assessed uuid:978331eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:79188 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28472 infores:orphanet PMID:20301310 Assessed loss_of_function_variant_form uuid:978331ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:29119 biolink:causes Orphanet:293888 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2511 infores:orphanet PMID:23136403 Assessed uuid:978331ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:222546 biolink:causes Orphanet:293864 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21478 infores:orphanet PMID:21965172 Assessed uuid:978331ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:5648 biolink:causes Orphanet:293843 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6901 infores:orphanet PMID:21258343 Assessed loss_of_function_variant_form uuid:978331ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:78989 biolink:causes Orphanet:293843 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17213 infores:orphanet PMID:21258343 Assessed loss_of_function_variant_form uuid:978331f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:10584 biolink:causes Orphanet:293843 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2220 infores:orphanet PMID:28301481 Assessed uuid:978331f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4286 biolink:contributes_to Orphanet:293822 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7105 infores:orphanet PMID:22480646|PMID:22012259 Assessed uuid:978331f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:10661 biolink:causes Orphanet:293825 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6345 infores:orphanet Assessed uuid:978331f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:9968 biolink:causes Orphanet:293707 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11957 infores:orphanet PMID:23395478 Assessed uuid:978331f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5831 biolink:causes Orphanet:293633 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9721 infores:orphanet PMID:22052856 Assessed uuid:978331f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:27232 biolink:causes Orphanet:289891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4415 infores:orphanet PMID:19585268 Assessed loss_of_function_variant_form uuid:978331f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:275 biolink:causes Orphanet:289863 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:473 infores:orphanet PMID:20301531 Assessed loss_of_function_variant_form uuid:978331f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2653 biolink:causes Orphanet:289863 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4208 infores:orphanet PMID:20301531 Assessed uuid:978331f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2731 biolink:causes Orphanet:289863 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4313 infores:orphanet PMID:20301531 Assessed uuid:978331f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6536 biolink:causes Orphanet:289863 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11056 infores:orphanet PMID:27773429 Assessed uuid:978331fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:4594 biolink:causes Orphanet:289916 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7526 infores:orphanet PMID:20301409 Assessed loss_of_function_variant_form uuid:978331fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:275 biolink:causes Orphanet:289857 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:473 infores:orphanet PMID:20301531 Assessed loss_of_function_variant_form uuid:978331fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2653 biolink:causes Orphanet:289857 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4208 infores:orphanet PMID:20301531 Assessed uuid:978331fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2731 biolink:causes Orphanet:289857 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4313 infores:orphanet PMID:20301531 Assessed uuid:978331fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:275 biolink:causes Orphanet:289860 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:473 infores:orphanet PMID:20301531 Assessed loss_of_function_variant_form uuid:978331ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:2653 biolink:causes Orphanet:289860 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4208 infores:orphanet PMID:20301531 Assessed uuid:97833200-d8a7-11f1-ae73-e4fade41113c NCBIGene:2731 biolink:causes Orphanet:289860 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4313 infores:orphanet PMID:20301531 Assessed uuid:97833201-d8a7-11f1-ae73-e4fade41113c NCBIGene:6536 biolink:causes Orphanet:289860 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11056 infores:orphanet PMID:27481395 Assessed uuid:97833202-d8a7-11f1-ae73-e4fade41113c NCBIGene:2937 biolink:causes Orphanet:289846 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4624 infores:orphanet Assessed loss_of_function_variant_form uuid:97833203-d8a7-11f1-ae73-e4fade41113c NCBIGene:2937 biolink:causes Orphanet:289849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4624 infores:orphanet Assessed uuid:97833204-d8a7-11f1-ae73-e4fade41113c NCBIGene:83636 biolink:causes Orphanet:289560 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25443 infores:orphanet PMID:21981780 Assessed uuid:97833205-d8a7-11f1-ae73-e4fade41113c NCBIGene:1583 biolink:causes Orphanet:289548 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2590 infores:orphanet PMID:21880796 Assessed loss_of_function_variant_form uuid:97833206-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:289539 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:950 infores:orphanet PMID:21956388 Assessed uuid:97833207-d8a7-11f1-ae73-e4fade41113c NCBIGene:4907 biolink:causes Orphanet:289601 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8021 infores:orphanet PMID:21288095 Assessed loss_of_function_variant_form uuid:97833208-d8a7-11f1-ae73-e4fade41113c NCBIGene:1475 biolink:causes Orphanet:289586 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2481 infores:orphanet PMID:21944047 Assessed loss_of_function_variant_form uuid:97833209-d8a7-11f1-ae73-e4fade41113c NCBIGene:5271 biolink:causes Orphanet:289586 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8952 infores:orphanet PMID:27476651 Assessed loss_of_function_variant_form uuid:9783320a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1308 biolink:causes Orphanet:293381 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2194 infores:orphanet PMID:25676728 Assessed gain_of_function_variant_form uuid:9783320b-d8a7-11f1-ae73-e4fade41113c NCBIGene:83959 biolink:causes Orphanet:293603 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16438 infores:orphanet PMID:16767101|PMID:24351571 Assessed uuid:9783320c-d8a7-11f1-ae73-e4fade41113c NCBIGene:51119 biolink:causes Orphanet:811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19440 infores:orphanet PMID:20301722 Assessed uuid:9783320d-d8a7-11f1-ae73-e4fade41113c NCBIGene:134218 biolink:causes Orphanet:811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27030 infores:orphanet PMID:28062395 Assessed uuid:9783320e-d8a7-11f1-ae73-e4fade41113c NCBIGene:79631 biolink:causes Orphanet:811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25789 infores:orphanet PMID:28331068 Assessed uuid:9783320f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5307 biolink:causes Orphanet:293150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9004 infores:orphanet PMID:18950742 Assessed uuid:97833210-d8a7-11f1-ae73-e4fade41113c NCBIGene:5307 biolink:gene_associated_with_condition Orphanet:293144 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9004 infores:orphanet PMID:21775501 Assessed uuid:97833211-d8a7-11f1-ae73-e4fade41113c NCBIGene:8642 biolink:causes Orphanet:741 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13681 infores:orphanet PMID:26258302 Assessed loss_of_function_variant_form uuid:97833212-d8a7-11f1-ae73-e4fade41113c NCBIGene:57679 biolink:causes Orphanet:293168 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:443 infores:orphanet PMID:24315819 Assessed uuid:97833213-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:293165 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:11841538 Assessed uuid:97833214-d8a7-11f1-ae73-e4fade41113c NCBIGene:846 biolink:causes Orphanet:428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1514 infores:orphanet PMID:9920108|PMID:12733714|PMID:22789683 Assessed gain_of_function_variant_form uuid:97833215-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4379 infores:orphanet PMID:23802516 Assessed gain_of_function_variant_form uuid:97833216-d8a7-11f1-ae73-e4fade41113c NCBIGene:6323 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10585 infores:orphanet PMID:21555645|PMID:20301494 Assessed uuid:97833217-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10588 infores:orphanet PMID:31618474 Assessed uuid:97833218-d8a7-11f1-ae73-e4fade41113c NCBIGene:79751 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19954 infores:orphanet PMID:24596948 Assessed uuid:97833219-d8a7-11f1-ae73-e4fade41113c NCBIGene:3785 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6296 infores:orphanet PMID:31618474 Assessed uuid:9783321a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5277 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8957 infores:orphanet PMID:31618474 Assessed uuid:9783321b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57465 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29203 infores:orphanet PMID:23526554 Assessed loss_of_function_variant_form uuid:9783321c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23236 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15917 infores:orphanet PMID:22690784 Assessed uuid:9783321d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57582 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:18865 infores:orphanet PMID:23086397 Assessed gain_of_function_variant_form uuid:9783321e-d8a7-11f1-ae73-e4fade41113c NCBIGene:57468 biolink:causes Orphanet:293181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13818 infores:orphanet PMID:26333769 Assessed loss_of_function_variant_form uuid:9783321f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:293199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:7706467 Assessed uuid:97833220-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:causes Orphanet:293199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7765 infores:orphanet PMID:34166060 Assessed uuid:97833221-d8a7-11f1-ae73-e4fade41113c NCBIGene:6662 biolink:causes Orphanet:393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11204 infores:orphanet PMID:24140641 Assessed uuid:97833222-d8a7-11f1-ae73-e4fade41113c NCBIGene:6736 biolink:causes Orphanet:393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11311 infores:orphanet PMID:20301589 Assessed uuid:97833223-d8a7-11f1-ae73-e4fade41113c NCBIGene:190 biolink:gene_associated_with_condition Orphanet:393 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7960 infores:orphanet PMID:28483799 Assessed uuid:97833224-d8a7-11f1-ae73-e4fade41113c NCBIGene:6658 biolink:causes Orphanet:393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11199 infores:orphanet PMID:21183788|PMID:22678921 Assessed gain_of_function_variant_form uuid:97833225-d8a7-11f1-ae73-e4fade41113c NCBIGene:2516 biolink:causes Orphanet:393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7983 infores:orphanet PMID:27490115 Assessed loss_of_function_variant_form uuid:97833226-d8a7-11f1-ae73-e4fade41113c NCBIGene:5053 biolink:causes Orphanet:293284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8582 infores:orphanet PMID:12409276 Assessed uuid:97833227-d8a7-11f1-ae73-e4fade41113c NCBIGene:1738 biolink:causes Orphanet:2394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2898 infores:orphanet PMID:24777537 Assessed loss_of_function_variant_form uuid:97833228-d8a7-11f1-ae73-e4fade41113c NCBIGene:1991 biolink:causes Orphanet:2686 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3309 infores:orphanet PMID:14673143|PMID:10581030 Assessed uuid:97833229-d8a7-11f1-ae73-e4fade41113c NCBIGene:2710 biolink:causes Orphanet:284414 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4289 infores:orphanet PMID:8651297 Assessed uuid:9783322a-d8a7-11f1-ae73-e4fade41113c NCBIGene:29968 biolink:causes Orphanet:284417 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19129 infores:orphanet PMID:17436247 Assessed uuid:9783322b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3939 biolink:causes Orphanet:284426 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6535 infores:orphanet Assessed uuid:9783322c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3945 biolink:causes Orphanet:284435 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6541 infores:orphanet Assessed uuid:9783322d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7046 biolink:causes Orphanet:284973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11772 infores:orphanet PMID:16799921|PMID:18781618 Assessed uuid:9783322e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7048 biolink:causes Orphanet:284973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11773 infores:orphanet Assessed uuid:9783322f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:284963 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet Assessed uuid:97833230-d8a7-11f1-ae73-e4fade41113c NCBIGene:4088 biolink:causes Orphanet:284984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6769 infores:orphanet PMID:22167769 Assessed uuid:97833231-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:284979 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet PMID:20132243 Assessed uuid:97833232-d8a7-11f1-ae73-e4fade41113c NCBIGene:7148 biolink:causes Orphanet:289365 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11976 infores:orphanet PMID:23620400 Assessed uuid:97833233-d8a7-11f1-ae73-e4fade41113c NCBIGene:6092 biolink:causes Orphanet:289365 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10250 infores:orphanet PMID:17357069 Assessed uuid:97833234-d8a7-11f1-ae73-e4fade41113c NCBIGene:64321 biolink:causes Orphanet:289365 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18122 infores:orphanet PMID:20960469 Assessed uuid:97833235-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:289377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12403 infores:orphanet PMID:17444505|PMID:22238790 Assessed uuid:97833236-d8a7-11f1-ae73-e4fade41113c NCBIGene:1292 biolink:causes Orphanet:289380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2212 infores:orphanet PMID:18852439 Assessed uuid:97833237-d8a7-11f1-ae73-e4fade41113c NCBIGene:132 biolink:causes Orphanet:289290 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:257 infores:orphanet PMID:21963049 Assessed loss_of_function_variant_form uuid:97833238-d8a7-11f1-ae73-e4fade41113c NCBIGene:2903 biolink:causes Orphanet:289266 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4585 infores:orphanet PMID:20890276 Assessed uuid:97833239-d8a7-11f1-ae73-e4fade41113c NCBIGene:4329 biolink:causes Orphanet:289307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7179 infores:orphanet PMID:21863277|PMID:10971205 Assessed uuid:9783323a-d8a7-11f1-ae73-e4fade41113c NCBIGene:197322 biolink:causes Orphanet:289504 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27288 infores:orphanet PMID:21841779 Assessed uuid:9783323b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7837 biolink:causes Orphanet:289499 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14966 infores:orphanet PMID:21907015|PMID:24939590 Assessed loss_of_function_variant_form uuid:9783323c-d8a7-11f1-ae73-e4fade41113c NCBIGene:220202 biolink:causes Orphanet:289499 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13907 infores:orphanet PMID:22068589 Assessed uuid:9783323d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4848 biolink:gene_associated_with_condition Orphanet:289513 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7878 infores:orphanet PMID:31145527 Assessed uuid:9783323e-d8a7-11f1-ae73-e4fade41113c NCBIGene:56916 biolink:causes Orphanet:289465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18398 infores:orphanet PMID:21820097 Assessed loss_of_function_variant_form uuid:9783323f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23385 biolink:causes Orphanet:289478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17091 infores:orphanet PMID:25601011 Assessed uuid:97833240-d8a7-11f1-ae73-e4fade41113c NCBIGene:1758 biolink:causes Orphanet:289176 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2932 infores:orphanet Assessed uuid:97833241-d8a7-11f1-ae73-e4fade41113c NCBIGene:5167 biolink:causes Orphanet:289176 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3356 infores:orphanet Assessed uuid:97833242-d8a7-11f1-ae73-e4fade41113c NCBIGene:1594 biolink:causes Orphanet:289157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2606 infores:orphanet Assessed uuid:97833243-d8a7-11f1-ae73-e4fade41113c NCBIGene:120227 biolink:causes Orphanet:289157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20580 infores:orphanet Assessed uuid:97833244-d8a7-11f1-ae73-e4fade41113c NCBIGene:412 biolink:gene_associated_with_condition Orphanet:281090 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11425 infores:orphanet PMID:3165728|PMID:10692123|PMID:15888481|PMID:18076704 Assessed uuid:97833245-d8a7-11f1-ae73-e4fade41113c NCBIGene:3848 biolink:causes Orphanet:281190 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6412 infores:orphanet PMID:25774499 Assessed uuid:97833246-d8a7-11f1-ae73-e4fade41113c NCBIGene:3858 biolink:causes Orphanet:281190 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6413 infores:orphanet PMID:20798280 Assessed uuid:97833247-d8a7-11f1-ae73-e4fade41113c NCBIGene:51371 biolink:causes Orphanet:281201 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20330 infores:orphanet PMID:20226437 Assessed uuid:97833248-d8a7-11f1-ae73-e4fade41113c NCBIGene:3848 biolink:causes Orphanet:281139 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6412 infores:orphanet PMID:10053007 Assessed uuid:97833249-d8a7-11f1-ae73-e4fade41113c NCBIGene:3858 biolink:causes Orphanet:281139 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6413 infores:orphanet PMID:9856845|PMID:9036939 Assessed uuid:9783324a-d8a7-11f1-ae73-e4fade41113c NCBIGene:242 biolink:causes Orphanet:281122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:430 infores:orphanet PMID:19890349 Assessed uuid:9783324b-d8a7-11f1-ae73-e4fade41113c NCBIGene:59344 biolink:causes Orphanet:281122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13743 infores:orphanet PMID:19890349 Assessed uuid:9783324c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7051 biolink:causes Orphanet:281122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11777 infores:orphanet PMID:12542526|PMID:19890349 Assessed uuid:9783324d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7051 biolink:causes Orphanet:281127 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11777 infores:orphanet PMID:19500103 Assessed uuid:9783324e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4254 biolink:causes Orphanet:280628 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6343 infores:orphanet PMID:21368769 Assessed uuid:9783324f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23556 biolink:causes Orphanet:280633 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8967 infores:orphanet PMID:21493957 Assessed uuid:97833250-d8a7-11f1-ae73-e4fade41113c NCBIGene:3048 biolink:causes Orphanet:280615 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4832 infores:orphanet PMID:21561349 Assessed uuid:97833251-d8a7-11f1-ae73-e4fade41113c NCBIGene:10516 biolink:causes Orphanet:280598 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3602 infores:orphanet PMID:21576112 Assessed uuid:97833252-d8a7-11f1-ae73-e4fade41113c NCBIGene:9570 biolink:causes Orphanet:280620 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4431 infores:orphanet PMID:21549339 Assessed loss_of_function_variant_form uuid:97833253-d8a7-11f1-ae73-e4fade41113c NCBIGene:1120 biolink:causes Orphanet:280671 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1938 infores:orphanet PMID:21665002|PMID:22782513 Assessed uuid:97833254-d8a7-11f1-ae73-e4fade41113c NCBIGene:10319 biolink:causes Orphanet:280640 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6494 infores:orphanet PMID:21572413 Assessed uuid:97833255-d8a7-11f1-ae73-e4fade41113c NCBIGene:8323 biolink:causes Orphanet:280654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4044 infores:orphanet PMID:21665003 Assessed uuid:97833256-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:280785 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet PMID:15173254 Assessed uuid:97833257-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:280794 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet PMID:15173254 Assessed uuid:97833258-d8a7-11f1-ae73-e4fade41113c NCBIGene:79184 biolink:gene_associated_with_condition Orphanet:280679 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:24185 infores:orphanet PMID:21596366 Assessed uuid:97833259-d8a7-11f1-ae73-e4fade41113c NCBIGene:9179 biolink:causes Orphanet:280763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:574 infores:orphanet PMID:19559397 Assessed uuid:9783325a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23431 biolink:causes Orphanet:280763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:573 infores:orphanet PMID:20972249|PMID:21620353 Assessed uuid:9783325b-d8a7-11f1-ae73-e4fade41113c NCBIGene:10717 biolink:causes Orphanet:280763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:572 infores:orphanet PMID:22290197|PMID:21620353 Assessed uuid:9783325c-d8a7-11f1-ae73-e4fade41113c NCBIGene:11154 biolink:causes Orphanet:280763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:575 infores:orphanet PMID:21620353 Assessed uuid:9783325d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3590 biolink:causes Orphanet:284149 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5967 infores:orphanet PMID:21741611 Assessed loss_of_function_variant_form uuid:9783325e-d8a7-11f1-ae73-e4fade41113c NCBIGene:26229 biolink:causes Orphanet:284139 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:923 infores:orphanet PMID:21763480 Assessed uuid:9783325f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51322 biolink:gene_associated_with_condition Orphanet:284169 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:17327 infores:orphanet PMID:21522184|PMID:26264232 Assessed uuid:97833260-d8a7-11f1-ae73-e4fade41113c NCBIGene:3490 biolink:causes Orphanet:284247 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5476 infores:orphanet PMID:21835307 Assessed uuid:97833261-d8a7-11f1-ae73-e4fade41113c NCBIGene:1778 biolink:causes Orphanet:284232 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2961 infores:orphanet PMID:20301462|PMID:21820100 Assessed uuid:97833262-d8a7-11f1-ae73-e4fade41113c NCBIGene:255928 biolink:causes Orphanet:284271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23143 infores:orphanet PMID:21835308 Assessed uuid:97833263-d8a7-11f1-ae73-e4fade41113c NCBIGene:1200 biolink:causes Orphanet:284324 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2073 infores:orphanet PMID:23418007 Assessed uuid:97833264-d8a7-11f1-ae73-e4fade41113c NCBIGene:51741 biolink:causes Orphanet:284282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12799 infores:orphanet PMID:24369382 Assessed loss_of_function_variant_form uuid:97833265-d8a7-11f1-ae73-e4fade41113c NCBIGene:55129 biolink:causes Orphanet:284289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25519 infores:orphanet PMID:21092923 Assessed uuid:97833266-d8a7-11f1-ae73-e4fade41113c NCBIGene:23405 biolink:causes Orphanet:284343 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17098 infores:orphanet PMID:21266384|PMID:24761742 Assessed loss_of_function_variant_form uuid:97833267-d8a7-11f1-ae73-e4fade41113c NCBIGene:114034 biolink:causes Orphanet:284339 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15954 infores:orphanet PMID:28092684 Assessed loss_of_function_variant_form uuid:97833268-d8a7-11f1-ae73-e4fade41113c NCBIGene:2710 biolink:causes Orphanet:284411 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4289 infores:orphanet PMID:8651297 Assessed uuid:97833269-d8a7-11f1-ae73-e4fade41113c NCBIGene:5621 biolink:causes Orphanet:282166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9449 infores:orphanet PMID:10790216|PMID:20301407 Assessed uuid:9783326a-d8a7-11f1-ae73-e4fade41113c NCBIGene:55532 biolink:causes Orphanet:309854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25355 infores:orphanet PMID:22341972 Assessed uuid:9783326b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8540 biolink:causes Orphanet:309803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:327 infores:orphanet PMID:21990100 Assessed uuid:9783326c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5191 biolink:causes Orphanet:309789 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8860 infores:orphanet PMID:21990100 Assessed uuid:9783326d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8443 biolink:causes Orphanet:309796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4416 infores:orphanet PMID:21990100 Assessed uuid:9783326e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:causes Orphanet:314029 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2197 infores:orphanet PMID:21344539 Assessed uuid:9783326f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1278 biolink:causes Orphanet:314029 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2198 infores:orphanet PMID:21344539 Assessed uuid:97833270-d8a7-11f1-ae73-e4fade41113c NCBIGene:649 biolink:causes Orphanet:314029 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1067 infores:orphanet PMID:27264419|PMID:22482805 Assessed uuid:97833271-d8a7-11f1-ae73-e4fade41113c NCBIGene:324 biolink:causes Orphanet:314022 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:583 infores:orphanet PMID:27087319 Assessed uuid:97833272-d8a7-11f1-ae73-e4fade41113c NCBIGene:6660 biolink:causes Orphanet:313892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11201 infores:orphanet PMID:22290657 Assessed uuid:97833273-d8a7-11f1-ae73-e4fade41113c NCBIGene:6660 biolink:gene_associated_with_condition Orphanet:313884 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11201 infores:orphanet PMID:22290657 Assessed uuid:97833274-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:313855 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3689 infores:orphanet PMID:22387015 Assessed uuid:97833275-d8a7-11f1-ae73-e4fade41113c NCBIGene:50 biolink:causes Orphanet:313850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:118 infores:orphanet PMID:22405087 Assessed uuid:97833276-d8a7-11f1-ae73-e4fade41113c NCBIGene:545 biolink:causes Orphanet:313846 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:882 infores:orphanet PMID:22341969 Assessed uuid:97833277-d8a7-11f1-ae73-e4fade41113c NCBIGene:80169 biolink:causes Orphanet:313838 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26169 infores:orphanet PMID:22267198 Assessed uuid:97833278-d8a7-11f1-ae73-e4fade41113c NCBIGene:79991 biolink:causes Orphanet:313838 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26200 infores:orphanet PMID:25957586 Assessed loss_of_function_variant_form uuid:97833279-d8a7-11f1-ae73-e4fade41113c NCBIGene:80216 biolink:causes Orphanet:313800 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20917 infores:orphanet PMID:30967659 Assessed loss_of_function_variant_form uuid:9783327a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57505 biolink:causes Orphanet:313808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21022 infores:orphanet PMID:27749956 Assessed loss_of_function_variant_form uuid:9783327b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1436 biolink:causes Orphanet:313808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2433 infores:orphanet PMID:22197934 Assessed loss_of_function_variant_form uuid:9783327c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5932 biolink:causes Orphanet:313795 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9891 infores:orphanet Assessed uuid:9783327d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10939 biolink:causes Orphanet:313772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:315 infores:orphanet PMID:22022284 Assessed uuid:9783327e-d8a7-11f1-ae73-e4fade41113c NCBIGene:92935 biolink:causes Orphanet:314603 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25133 infores:orphanet PMID:22448145 Assessed uuid:9783327f-d8a7-11f1-ae73-e4fade41113c NCBIGene:29899 biolink:causes Orphanet:314597 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29501 infores:orphanet PMID:22578326 Assessed uuid:97833280-d8a7-11f1-ae73-e4fade41113c NCBIGene:3300 biolink:causes Orphanet:314485 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5228 infores:orphanet PMID:22522442 Assessed loss_of_function_variant_form uuid:97833281-d8a7-11f1-ae73-e4fade41113c NCBIGene:64856 biolink:causes Orphanet:314485 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30910 infores:orphanet PMID:33559681 Assessed uuid:97833282-d8a7-11f1-ae73-e4fade41113c NCBIGene:10265 biolink:causes Orphanet:314555 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14361 infores:orphanet PMID:22581230 Assessed uuid:97833283-d8a7-11f1-ae73-e4fade41113c NCBIGene:25886 biolink:causes Orphanet:314394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24488 infores:orphanet PMID:22840363|PMID:22840364 Assessed uuid:97833284-d8a7-11f1-ae73-e4fade41113c NCBIGene:6731 biolink:causes Orphanet:314399 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11303 infores:orphanet PMID:22541560 Assessed uuid:97833285-d8a7-11f1-ae73-e4fade41113c NCBIGene:1786 biolink:causes Orphanet:314404 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2976 infores:orphanet PMID:22328086 Assessed uuid:97833286-d8a7-11f1-ae73-e4fade41113c NCBIGene:2984 biolink:causes Orphanet:314373 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4688 infores:orphanet PMID:22436048 Assessed uuid:97833287-d8a7-11f1-ae73-e4fade41113c NCBIGene:2984 biolink:causes Orphanet:314376 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4688 infores:orphanet PMID:22521417 Assessed uuid:97833288-d8a7-11f1-ae73-e4fade41113c NCBIGene:667 biolink:causes Orphanet:314381 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1090 infores:orphanet PMID:22522446 Assessed uuid:97833289-d8a7-11f1-ae73-e4fade41113c NCBIGene:124454 biolink:causes Orphanet:314051 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29419 infores:orphanet PMID:22492562|PMID:24501781 Assessed uuid:9783328a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23400 biolink:causes Orphanet:306674 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30213 infores:orphanet PMID:2276817|PMID:22166458 Assessed loss_of_function_variant_form uuid:9783328b-d8a7-11f1-ae73-e4fade41113c NCBIGene:27249 biolink:causes Orphanet:308380 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25221 infores:orphanet PMID:18385497 Assessed uuid:9783328c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4337 biolink:causes Orphanet:308386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7190 infores:orphanet Assessed loss_of_function_variant_form uuid:9783328d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4338 biolink:causes Orphanet:308393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7193 infores:orphanet Assessed loss_of_function_variant_form uuid:9783328e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10243 biolink:causes Orphanet:308400 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15465 infores:orphanet Assessed uuid:9783328f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10295 biolink:causes Orphanet:308410 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16902 infores:orphanet PMID:22956686 Assessed loss_of_function_variant_form uuid:97833290-d8a7-11f1-ae73-e4fade41113c NCBIGene:84693 biolink:causes Orphanet:308425 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16732 infores:orphanet Assessed uuid:97833291-d8a7-11f1-ae73-e4fade41113c NCBIGene:2632 biolink:causes Orphanet:308698 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4180 infores:orphanet Assessed uuid:97833292-d8a7-11f1-ae73-e4fade41113c NCBIGene:2632 biolink:causes Orphanet:308712 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4180 infores:orphanet Assessed uuid:97833293-d8a7-11f1-ae73-e4fade41113c NCBIGene:2632 biolink:causes Orphanet:308670 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4180 infores:orphanet Assessed uuid:97833294-d8a7-11f1-ae73-e4fade41113c NCBIGene:2632 biolink:causes Orphanet:308684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4180 infores:orphanet Assessed uuid:97833295-d8a7-11f1-ae73-e4fade41113c NCBIGene:4023 biolink:causes Orphanet:309015 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6677 infores:orphanet PMID:24589565 Assessed loss_of_function_variant_form uuid:97833296-d8a7-11f1-ae73-e4fade41113c NCBIGene:344 biolink:causes Orphanet:309020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:609 infores:orphanet PMID:24589565 Assessed loss_of_function_variant_form uuid:97833297-d8a7-11f1-ae73-e4fade41113c NCBIGene:2582 biolink:causes Orphanet:308487 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4116 infores:orphanet Assessed uuid:97833298-d8a7-11f1-ae73-e4fade41113c NCBIGene:2582 biolink:causes Orphanet:308473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4116 infores:orphanet Assessed uuid:97833299-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:contributes_to Orphanet:178 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1101 infores:orphanet PMID:35762214 Assessed uuid:9783329a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6862 biolink:contributes_to Orphanet:178 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11515 infores:orphanet PMID:19801981|PMID:23064415 Assessed uuid:9783329b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79728 biolink:contributes_to Orphanet:178 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:26144 infores:orphanet PMID:35762214 Assessed uuid:9783329c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5116 biolink:causes Orphanet:2637 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16068 infores:orphanet PMID:18174396 Assessed loss_of_function_variant_form uuid:9783329d-d8a7-11f1-ae73-e4fade41113c NCBIGene:27249 biolink:causes Orphanet:308442 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25221 infores:orphanet Assessed uuid:9783329e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2632 biolink:causes Orphanet:308655 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4180 infores:orphanet Assessed uuid:9783329f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2632 biolink:causes Orphanet:308638 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4180 infores:orphanet Assessed uuid:978332a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2632 biolink:causes Orphanet:308621 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4180 infores:orphanet Assessed uuid:978332a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2548 biolink:causes Orphanet:308552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4065 infores:orphanet Assessed uuid:978332a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5660 biolink:causes Orphanet:309271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9498 infores:orphanet PMID:24478108 Assessed uuid:978332a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:410 biolink:causes Orphanet:309271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:713 infores:orphanet PMID:20301309 Assessed loss_of_function_variant_form uuid:978332a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:4125 biolink:causes Orphanet:309282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6826 infores:orphanet PMID:19958498 Assessed uuid:978332a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4125 biolink:causes Orphanet:309288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6826 infores:orphanet PMID:19958498 Assessed uuid:978332a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2760 biolink:causes Orphanet:309246 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4367 infores:orphanet PMID:8900233 Assessed uuid:978332a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5660 biolink:causes Orphanet:309252 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9498 infores:orphanet Assessed uuid:978332a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5660 biolink:causes Orphanet:309256 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9498 infores:orphanet PMID:24478108 Assessed uuid:978332a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:410 biolink:causes Orphanet:309256 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:713 infores:orphanet PMID:20301309 Assessed loss_of_function_variant_form uuid:978332aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:5660 biolink:causes Orphanet:309263 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9498 infores:orphanet PMID:24478108 Assessed uuid:978332ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:410 biolink:causes Orphanet:309263 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:713 infores:orphanet PMID:20301309 Assessed loss_of_function_variant_form uuid:978332ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:26503 biolink:causes Orphanet:309324 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10933 infores:orphanet PMID:20301643 Assessed uuid:978332ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:26503 biolink:causes Orphanet:309331 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10933 infores:orphanet PMID:20301643 Assessed uuid:978332ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:26503 biolink:causes Orphanet:309334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10933 infores:orphanet PMID:20301643 Assessed uuid:978332af-d8a7-11f1-ae73-e4fade41113c NCBIGene:2588 biolink:causes Orphanet:309297 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4122 infores:orphanet PMID:23844448 Assessed uuid:978332b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2720 biolink:causes Orphanet:309310 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4298 infores:orphanet PMID:24156116 Assessed uuid:978332b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3073 biolink:causes Orphanet:309185 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4878 infores:orphanet Assessed uuid:978332b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3073 biolink:causes Orphanet:309178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4878 infores:orphanet Assessed uuid:978332b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3073 biolink:causes Orphanet:309192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4878 infores:orphanet Assessed uuid:978332b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3074 biolink:causes Orphanet:309155 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4879 infores:orphanet PMID:20798201 Assessed loss_of_function_variant_form uuid:978332b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3074 biolink:causes Orphanet:309169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4879 infores:orphanet PMID:20798201 Assessed loss_of_function_variant_form uuid:978332b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3074 biolink:causes Orphanet:309162 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4879 infores:orphanet PMID:20798201 Assessed loss_of_function_variant_form uuid:978332b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6569 biolink:causes Orphanet:300547 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11019 infores:orphanet PMID:26047794 Assessed loss_of_function_variant_form uuid:978332b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1591 biolink:causes Orphanet:300547 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2602 infores:orphanet PMID:21675912 Assessed loss_of_function_variant_form uuid:978332b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:10381 biolink:causes Orphanet:300570 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20772 infores:orphanet PMID:20829227 Assessed uuid:978332ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:347733 biolink:causes Orphanet:300573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30829 infores:orphanet PMID:19465910 Assessed uuid:978332bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5277 biolink:causes Orphanet:300496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8957 infores:orphanet Assessed uuid:978332bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:26249 biolink:causes Orphanet:300525 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6354 infores:orphanet PMID:22073419 Assessed uuid:978332bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:8452 biolink:causes Orphanet:300530 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2553 infores:orphanet PMID:22073419 Assessed uuid:978332be-d8a7-11f1-ae73-e4fade41113c NCBIGene:1650 biolink:causes Orphanet:300536 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2728 infores:orphanet PMID:22305527 Assessed uuid:978332bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:7297 biolink:gene_associated_with_condition Orphanet:300865 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12440 infores:orphanet PMID:25349176 Assessed uuid:978332c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4869 biolink:gene_associated_with_condition Orphanet:300865 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7910 infores:orphanet PMID:25349176 Assessed uuid:978332c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:28395 biolink:contributes_to Orphanet:300878 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5650 infores:orphanet PMID:21599610|PMID:19745070 Assessed uuid:978332c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:causes Orphanet:300895 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:427 infores:orphanet PMID:12112524 Assessed uuid:978332c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6652 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11184 infores:orphanet PMID:34751056 Assessed uuid:978332c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:9517 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11278 infores:orphanet PMID:38041679|PMID:38041684 Assessed uuid:978332c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:23345 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17089 infores:orphanet PMID:32870032|PMID:15106121|PMID:31957062 Assessed uuid:978332c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10020 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23657 infores:orphanet PMID:29086072 Assessed uuid:978332c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:23400 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30213 infores:orphanet PMID:30992063 Assessed uuid:978332c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:79979 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25748 infores:orphanet PMID:37874476 Assessed uuid:978332c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:10613 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16947 infores:orphanet PMID:29453415 Assessed uuid:978332ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:57679 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:443 infores:orphanet PMID:23282280 Assessed uuid:978332cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:80208 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11226 infores:orphanet PMID:24085347|PMID:22154821|PMID:20110243 Assessed uuid:978332cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:10558 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11277 infores:orphanet PMID:34459874 Assessed uuid:978332cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2521 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4010 infores:orphanet PMID:20579074|PMID:23046859|PMID:22248478 Assessed uuid:978332ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:10280 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8157 infores:orphanet PMID:21842496|PMID:24085347 Assessed uuid:978332cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:23435 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11571 infores:orphanet PMID:33159016|PMID:36011394 Assessed uuid:978332d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:29978 biolink:causes Orphanet:300605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12509 infores:orphanet PMID:21857683 Assessed uuid:978332d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:300751 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:20301717 Assessed uuid:978332d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:8772 biolink:causes Orphanet:306550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3573 infores:orphanet PMID:21109225 Assessed uuid:978332d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8092 biolink:causes Orphanet:306542 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1494 infores:orphanet PMID:20451171 Assessed loss_of_function_variant_form uuid:978332d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:83700 biolink:causes Orphanet:306547 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15532 infores:orphanet PMID:21109224 Assessed uuid:978332d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3211 biolink:causes Orphanet:306530 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5111 infores:orphanet PMID:22770981 Assessed uuid:978332d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:9907 biolink:causes Orphanet:306511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:22197 infores:orphanet PMID:20613862 Assessed loss_of_function_variant_form uuid:978332d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3675 biolink:causes Orphanet:306504 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6139 infores:orphanet PMID:22512183 Assessed loss_of_function_variant_form uuid:978332d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8074 biolink:causes Orphanet:306661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3680 infores:orphanet PMID:15590700|PMID:22142751|PMID:19188744 Assessed loss_of_function_variant_form uuid:978332d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2591 biolink:causes Orphanet:306661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4125 infores:orphanet PMID:15133511|PMID:21347749 Assessed loss_of_function_variant_form uuid:978332da-d8a7-11f1-ae73-e4fade41113c NCBIGene:9365 biolink:causes Orphanet:306661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6344 infores:orphanet PMID:17710231|PMID:22142751 Assessed loss_of_function_variant_form uuid:978332db-d8a7-11f1-ae73-e4fade41113c NCBIGene:54809 biolink:causes Orphanet:306658 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1348 infores:orphanet PMID:16960814|PMID:18094730 Assessed loss_of_function_variant_form uuid:978332dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3897 biolink:causes Orphanet:306617 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6470 infores:orphanet PMID:20301657 Assessed uuid:978332dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6335 biolink:causes Orphanet:306577 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10597 infores:orphanet PMID:21698661 Assessed gain_of_function_variant_form uuid:978332de-d8a7-11f1-ae73-e4fade41113c NCBIGene:6336 biolink:causes Orphanet:306577 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10582 infores:orphanet PMID:23115331 Assessed gain_of_function_variant_form uuid:978332df-d8a7-11f1-ae73-e4fade41113c NCBIGene:11280 biolink:causes Orphanet:306577 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10583 infores:orphanet PMID:24776970 Assessed gain_of_function_variant_form uuid:978332e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:51124 biolink:causes Orphanet:306558 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18550 infores:orphanet PMID:21835305 Assessed uuid:978332e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:81555 biolink:causes Orphanet:306558 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24877 infores:orphanet PMID:33164987 Assessed uuid:978332e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3239 biolink:causes Orphanet:295195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5136 infores:orphanet PMID:22448207 Assessed uuid:978332e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3239 biolink:causes Orphanet:295191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5136 infores:orphanet PMID:24789103 Assessed uuid:978332e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3236 biolink:causes Orphanet:295201 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5133 infores:orphanet Assessed uuid:978332e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3236 biolink:causes Orphanet:295203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5133 infores:orphanet PMID:15146389|PMID:16450407 Assessed uuid:978332e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2192 biolink:causes Orphanet:295197 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3600 infores:orphanet PMID:22448207|PMID:11836357 Assessed uuid:978332e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:295239 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:23100325 Assessed uuid:978332e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:295243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:24782230 Assessed uuid:978332e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:55033 biolink:causes Orphanet:300179 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18625 infores:orphanet PMID:22265013 Assessed uuid:978332ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:90678 biolink:causes Orphanet:300319 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25135 infores:orphanet PMID:20301462 Assessed uuid:978332eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:84433 biolink:contributes_to Orphanet:300324 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16393 infores:orphanet PMID:25352053 Assessed uuid:978332ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:9197 biolink:causes Orphanet:300313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:95 infores:orphanet PMID:22243965 Assessed uuid:978332ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:55240 biolink:causes Orphanet:300298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24592 infores:orphanet PMID:22031863 Assessed uuid:978332ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:8985 biolink:causes Orphanet:300284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9083 infores:orphanet PMID:18834968 Assessed uuid:978332ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:2819 biolink:causes Orphanet:300293 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4455 infores:orphanet PMID:22226083 Assessed uuid:978332f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:84699 biolink:causes Orphanet:300293 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18855 infores:orphanet PMID:26427795 Assessed uuid:978332f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:300382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet PMID:21594992|PMID:21594993 Assessed uuid:978332f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:720 biolink:contributes_to Orphanet:300345 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1323 infores:orphanet PMID:15032584 Assessed uuid:978332f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:712 biolink:contributes_to Orphanet:300345 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1241 infores:orphanet PMID:15032584 Assessed uuid:978332f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1776 biolink:causes Orphanet:300345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2959 infores:orphanet PMID:22019780 Assessed loss_of_function_variant_form uuid:978332f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1773 biolink:causes Orphanet:300345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2956 infores:orphanet PMID:11479590 Assessed uuid:978332f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:715 biolink:causes Orphanet:300345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1246 infores:orphanet PMID:28544690 Assessed loss_of_function_variant_form uuid:978332f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5336 biolink:causes Orphanet:300359 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9066 infores:orphanet PMID:22236196|PMID:23000145 Assessed gain_of_function_variant_form uuid:978332f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:977 biolink:causes Orphanet:300333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1630 infores:orphanet PMID:15265795 Assessed uuid:978332f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:51594 biolink:causes Orphanet:464724 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15625 infores:orphanet PMID:26073778 Assessed loss_of_function_variant_form uuid:978332fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:60561 biolink:causes Orphanet:464724 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21876 infores:orphanet PMID:31204009 Assessed uuid:978332fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:81857 biolink:causes Orphanet:464738 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28845 infores:orphanet PMID:25792360 Assessed uuid:978332fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:4327 biolink:causes Orphanet:464760 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7165 infores:orphanet PMID:25581579 Assessed uuid:978332fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:495 biolink:causes Orphanet:464756 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:819 infores:orphanet PMID:25678551 Assessed uuid:978332fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:3077 biolink:causes Orphanet:465508 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4886 infores:orphanet PMID:20301613 Assessed uuid:978332ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:654 biolink:causes Orphanet:465508 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1073 infores:orphanet PMID:28335084 Assessed uuid:97833300-d8a7-11f1-ae73-e4fade41113c NCBIGene:57531 biolink:causes Orphanet:464282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21033 infores:orphanet PMID:26424145|PMID:26437029 Assessed loss_of_function_variant_form uuid:97833301-d8a7-11f1-ae73-e4fade41113c NCBIGene:54496 biolink:causes Orphanet:464288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25557 infores:orphanet PMID:26437029 Assessed loss_of_function_variant_form uuid:97833302-d8a7-11f1-ae73-e4fade41113c NCBIGene:1859 biolink:causes Orphanet:464311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3091 infores:orphanet PMID:25944381|PMID:25641759|PMID:26677511 Assessed loss_of_function_variant_form uuid:97833303-d8a7-11f1-ae73-e4fade41113c NCBIGene:91754 biolink:causes Orphanet:464366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18591 infores:orphanet PMID:26908619 Assessed loss_of_function_variant_form uuid:97833304-d8a7-11f1-ae73-e4fade41113c NCBIGene:84433 biolink:causes Orphanet:464336 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:16393 infores:orphanet PMID:23129749|PMID:25352053|PMID:25930198 Assessed gain_of_function_variant_form uuid:97833305-d8a7-11f1-ae73-e4fade41113c NCBIGene:57511 biolink:causes Orphanet:464443 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18621 infores:orphanet PMID:23430903|PMID:26260076 Assessed uuid:97833306-d8a7-11f1-ae73-e4fade41113c NCBIGene:1293 biolink:causes Orphanet:464440 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2213 infores:orphanet PMID:26004199 Assessed uuid:97833307-d8a7-11f1-ae73-e4fade41113c NCBIGene:2215 biolink:gene_associated_with_condition Orphanet:464370 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:3620 infores:orphanet Assessed uuid:97833308-d8a7-11f1-ae73-e4fade41113c NCBIGene:4534 biolink:gene_associated_with_condition Orphanet:456328 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7448 infores:orphanet PMID:8789451 Assessed uuid:97833309-d8a7-11f1-ae73-e4fade41113c NCBIGene:10046 biolink:gene_associated_with_condition Orphanet:456328 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2568 infores:orphanet PMID:9169146|PMID:26580071 Assessed uuid:9783330a-d8a7-11f1-ae73-e4fade41113c NCBIGene:253430 biolink:causes Orphanet:456333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20739 infores:orphanet PMID:25865046 Assessed uuid:9783330b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51651 biolink:causes Orphanet:456312 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24265 infores:orphanet PMID:25574476 Assessed uuid:9783330c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1786 biolink:causes Orphanet:456318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2976 infores:orphanet PMID:21532572|PMID:23365052 Assessed uuid:9783330d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4913 biolink:causes Orphanet:454840 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8028 infores:orphanet PMID:25938944|PMID:26559593 Assessed loss_of_function_variant_form uuid:9783330e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5621 biolink:contributes_to Orphanet:454745 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9449 infores:orphanet PMID:11120925 Assessed uuid:9783330f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23312 biolink:causes Orphanet:453533 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2938 infores:orphanet PMID:25248098 Assessed uuid:97833310-d8a7-11f1-ae73-e4fade41113c NCBIGene:55280 biolink:causes Orphanet:453521 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25613 infores:orphanet PMID:25361784 Assessed uuid:97833311-d8a7-11f1-ae73-e4fade41113c NCBIGene:3321 biolink:causes Orphanet:451612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5950 infores:orphanet PMID:24372406 Assessed uuid:97833312-d8a7-11f1-ae73-e4fade41113c NCBIGene:3190 biolink:causes Orphanet:453504 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5044 infores:orphanet PMID:26173930 Assessed loss_of_function_variant_form uuid:97833313-d8a7-11f1-ae73-e4fade41113c NCBIGene:8218 biolink:causes Orphanet:453510 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2093 infores:orphanet PMID:26068709 Assessed uuid:97833314-d8a7-11f1-ae73-e4fade41113c NCBIGene:3868 biolink:causes Orphanet:448264 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6423 infores:orphanet PMID:8595410 Assessed uuid:97833315-d8a7-11f1-ae73-e4fade41113c NCBIGene:162514 biolink:causes Orphanet:448264 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:18084 infores:orphanet PMID:25285920 Assessed gain_of_function_variant_form uuid:97833316-d8a7-11f1-ae73-e4fade41113c NCBIGene:6548 biolink:causes Orphanet:448251 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11071 infores:orphanet PMID:25205112 Assessed loss_of_function_variant_form uuid:97833317-d8a7-11f1-ae73-e4fade41113c NCBIGene:3930 biolink:causes Orphanet:448267 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6518 infores:orphanet PMID:25348816|PMID:23824842 Assessed uuid:97833318-d8a7-11f1-ae73-e4fade41113c NCBIGene:790 biolink:causes Orphanet:448010 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1424 infores:orphanet PMID:25678555 Assessed uuid:97833319-d8a7-11f1-ae73-e4fade41113c NCBIGene:6509 biolink:causes Orphanet:447997 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10942 infores:orphanet PMID:25930971|PMID:26041762|PMID:26138499 Assessed uuid:9783331a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9060 biolink:causes Orphanet:448242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8604 infores:orphanet PMID:22791835 Assessed loss_of_function_variant_form uuid:9783331b-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:447977 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet PMID:25938801 Assessed uuid:9783331c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84700 biolink:causes Orphanet:447974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18150 infores:orphanet PMID:25748484 Assessed loss_of_function_variant_form uuid:9783331d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4784 biolink:gene_associated_with_condition Orphanet:447980 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7788 infores:orphanet PMID:29184170 Assessed uuid:9783331e-d8a7-11f1-ae73-e4fade41113c NCBIGene:92935 biolink:causes Orphanet:447954 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25133 infores:orphanet PMID:25754315 Assessed uuid:9783331f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4669 biolink:causes Orphanet:447964 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7632 infores:orphanet PMID:25818867 Assessed uuid:97833320-d8a7-11f1-ae73-e4fade41113c NCBIGene:23328 biolink:causes Orphanet:447961 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19182 infores:orphanet PMID:25315659 Assessed uuid:97833321-d8a7-11f1-ae73-e4fade41113c NCBIGene:11284 biolink:causes Orphanet:459033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9154 infores:orphanet PMID:25728773 Assessed uuid:97833322-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:459051 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:26183434 Assessed uuid:97833323-d8a7-11f1-ae73-e4fade41113c NCBIGene:1801 biolink:causes Orphanet:459061 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3003 infores:orphanet PMID:26220823 Assessed uuid:97833324-d8a7-11f1-ae73-e4fade41113c NCBIGene:1802 biolink:causes Orphanet:459061 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3004 infores:orphanet PMID:32576952 Assessed uuid:97833325-d8a7-11f1-ae73-e4fade41113c NCBIGene:4099 biolink:causes Orphanet:459056 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6783 infores:orphanet PMID:26179919 Assessed loss_of_function_variant_form uuid:97833326-d8a7-11f1-ae73-e4fade41113c NCBIGene:6134 biolink:causes Orphanet:459070 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10298 infores:orphanet PMID:26290468 Assessed uuid:97833327-d8a7-11f1-ae73-e4fade41113c NCBIGene:7222 biolink:causes Orphanet:458798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12335 infores:orphanet PMID:25477146 Assessed uuid:97833328-d8a7-11f1-ae73-e4fade41113c NCBIGene:8913 biolink:causes Orphanet:458803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1394 infores:orphanet PMID:26456284|PMID:26715324 Assessed uuid:97833329-d8a7-11f1-ae73-e4fade41113c NCBIGene:2475 biolink:causes Orphanet:457485 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3942 infores:orphanet PMID:25851998|PMID:26542245 Assessed gain_of_function_variant_form uuid:9783332a-d8a7-11f1-ae73-e4fade41113c NCBIGene:84823 biolink:causes Orphanet:457265 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6638 infores:orphanet PMID:25954030 Assessed uuid:9783332b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5528 biolink:causes Orphanet:457279 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9312 infores:orphanet PMID:26168268 Assessed uuid:9783332c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1654 biolink:causes Orphanet:457260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2745 infores:orphanet PMID:26235985 Assessed loss_of_function_variant_form uuid:9783332d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57187 biolink:causes Orphanet:457240 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19073 infores:orphanet PMID:26166480 Assessed loss_of_function_variant_form uuid:9783332e-d8a7-11f1-ae73-e4fade41113c NCBIGene:54880 biolink:causes Orphanet:457246 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:20893 infores:orphanet PMID:26098867 Assessed uuid:9783332f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:gene_associated_with_condition Orphanet:457246 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11730 infores:orphanet PMID:25481751|PMID:26493387 Assessed uuid:97833330-d8a7-11f1-ae73-e4fade41113c NCBIGene:7531 biolink:gene_associated_with_condition Orphanet:457246 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12851 infores:orphanet PMID:22294382 Assessed uuid:97833331-d8a7-11f1-ae73-e4fade41113c NCBIGene:729262 biolink:gene_associated_with_condition Orphanet:457246 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:23445 infores:orphanet PMID:22294382 Assessed uuid:97833332-d8a7-11f1-ae73-e4fade41113c NCBIGene:283008 biolink:gene_associated_with_condition Orphanet:457246 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:23448 infores:orphanet PMID:22294382 Assessed uuid:97833333-d8a7-11f1-ae73-e4fade41113c NCBIGene:153572 biolink:gene_associated_with_condition Orphanet:457246 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:14359 infores:orphanet PMID:25481751|PMID:26493387 Assessed uuid:97833334-d8a7-11f1-ae73-e4fade41113c NCBIGene:89970 biolink:causes Orphanet:457395 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29420 infores:orphanet PMID:26365341 Assessed loss_of_function_variant_form uuid:97833335-d8a7-11f1-ae73-e4fade41113c NCBIGene:122961 biolink:causes Orphanet:457406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19857 infores:orphanet PMID:25539947 Assessed uuid:97833336-d8a7-11f1-ae73-e4fade41113c NCBIGene:3704 biolink:causes Orphanet:457375 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6176 infores:orphanet PMID:26224535 Assessed uuid:97833337-d8a7-11f1-ae73-e4fade41113c NCBIGene:202018 biolink:causes Orphanet:457378 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26887 infores:orphanet PMID:26365339 Assessed uuid:97833338-d8a7-11f1-ae73-e4fade41113c NCBIGene:8925 biolink:causes Orphanet:457359 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4867 infores:orphanet PMID:26138117|PMID:27108999 Assessed loss_of_function_variant_form uuid:97833339-d8a7-11f1-ae73-e4fade41113c NCBIGene:5518 biolink:causes Orphanet:457284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9302 infores:orphanet PMID:26168268 Assessed uuid:9783333a-d8a7-11f1-ae73-e4fade41113c NCBIGene:166378 biolink:causes Orphanet:457351 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18119 infores:orphanet PMID:26299366 Assessed uuid:9783333b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51117 biolink:causes Orphanet:457185 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19693 infores:orphanet PMID:25658047|PMID:26185144 Assessed loss_of_function_variant_form uuid:9783333c-d8a7-11f1-ae73-e4fade41113c NCBIGene:64170 biolink:causes Orphanet:457088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16391 infores:orphanet PMID:19864672|PMID:24131138 Assessed uuid:9783333d-d8a7-11f1-ae73-e4fade41113c NCBIGene:51081 biolink:causes Orphanet:457223 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14499 infores:orphanet PMID:25556185 Assessed uuid:9783333e-d8a7-11f1-ae73-e4fade41113c NCBIGene:388662 biolink:causes Orphanet:457212 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31399 infores:orphanet PMID:25704603 Assessed uuid:9783333f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7994 biolink:causes Orphanet:457193 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13013 infores:orphanet PMID:25728775|PMID:25728777 Assessed uuid:97833340-d8a7-11f1-ae73-e4fade41113c NCBIGene:2992 biolink:causes Orphanet:456369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4699 infores:orphanet PMID:25272951 Assessed loss_of_function_variant_form uuid:97833341-d8a7-11f1-ae73-e4fade41113c NCBIGene:400916 biolink:causes Orphanet:457050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15559 infores:orphanet PMID:25193783 Assessed uuid:97833342-d8a7-11f1-ae73-e4fade41113c NCBIGene:2697 biolink:causes Orphanet:317 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4274 infores:orphanet PMID:25398053 Assessed uuid:97833343-d8a7-11f1-ae73-e4fade41113c NCBIGene:2707 biolink:causes Orphanet:317 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4285 infores:orphanet PMID:21564177 Assessed uuid:97833344-d8a7-11f1-ae73-e4fade41113c NCBIGene:127534 biolink:causes Orphanet:317 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4286 infores:orphanet PMID:23037955 Assessed uuid:97833345-d8a7-11f1-ae73-e4fade41113c NCBIGene:2531 biolink:causes Orphanet:317 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4021 infores:orphanet PMID:28575652 Assessed loss_of_function_variant_form uuid:97833346-d8a7-11f1-ae73-e4fade41113c NCBIGene:2688 biolink:causes Orphanet:629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4261 infores:orphanet PMID:8552145|PMID:9276733|PMID:15713716 Assessed uuid:97833347-d8a7-11f1-ae73-e4fade41113c NCBIGene:695 biolink:causes Orphanet:632 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1133 infores:orphanet PMID:8013627|PMID:9554752|PMID:22139958 Assessed uuid:97833348-d8a7-11f1-ae73-e4fade41113c NCBIGene:2000 biolink:causes Orphanet:632 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3319 infores:orphanet PMID:18180883 Assessed uuid:97833349-d8a7-11f1-ae73-e4fade41113c NCBIGene:1476 biolink:causes Orphanet:248 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2482 infores:orphanet PMID:30425301 Assessed uuid:9783334a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10913 biolink:causes Orphanet:248 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2895 infores:orphanet Assessed uuid:9783334b-d8a7-11f1-ae73-e4fade41113c NCBIGene:128178 biolink:causes Orphanet:248 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14341 infores:orphanet Assessed uuid:9783334c-d8a7-11f1-ae73-e4fade41113c NCBIGene:80326 biolink:causes Orphanet:248 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13829 infores:orphanet Assessed uuid:9783334d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10913 biolink:causes Orphanet:1810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2895 infores:orphanet Assessed uuid:9783334e-d8a7-11f1-ae73-e4fade41113c NCBIGene:128178 biolink:causes Orphanet:1810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14341 infores:orphanet Assessed uuid:9783334f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4040 biolink:causes Orphanet:1810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6698 infores:orphanet PMID:36553593 Assessed uuid:97833350-d8a7-11f1-ae73-e4fade41113c NCBIGene:7189 biolink:causes Orphanet:1810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12036 infores:orphanet Assessed uuid:97833351-d8a7-11f1-ae73-e4fade41113c NCBIGene:126695 biolink:causes Orphanet:1810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26624 infores:orphanet PMID:27838789 Assessed uuid:97833352-d8a7-11f1-ae73-e4fade41113c NCBIGene:355 biolink:contributes_to Orphanet:3437 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11920 infores:orphanet PMID:26136352 Assessed uuid:97833353-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:contributes_to Orphanet:3437 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:25382027 Assessed uuid:97833354-d8a7-11f1-ae73-e4fade41113c NCBIGene:26191 biolink:contributes_to Orphanet:3437 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9652 infores:orphanet PMID:24816862 Assessed uuid:97833355-d8a7-11f1-ae73-e4fade41113c NCBIGene:653509 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10798 infores:orphanet PMID:13680361 Assessed uuid:97833356-d8a7-11f1-ae73-e4fade41113c NCBIGene:6440 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10802 infores:orphanet PMID:15516475 Assessed uuid:97833357-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3052 infores:orphanet PMID:23583980 Assessed uuid:97833358-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11730 infores:orphanet PMID:17460043 Assessed uuid:97833359-d8a7-11f1-ae73-e4fade41113c NCBIGene:7012 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11727 infores:orphanet PMID:17392301|PMID:18753630 Assessed uuid:9783335a-d8a7-11f1-ae73-e4fade41113c NCBIGene:21 biolink:gene_associated_with_condition Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:33 infores:orphanet PMID:25553246 Not yet assessed uuid:9783335b-d8a7-11f1-ae73-e4fade41113c NCBIGene:727897 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7516 infores:orphanet PMID:21506741|PMID:21506748 Assessed uuid:9783335c-d8a7-11f1-ae73-e4fade41113c NCBIGene:729238 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10799 infores:orphanet PMID:19100526 Assessed uuid:9783335d-d8a7-11f1-ae73-e4fade41113c NCBIGene:51750 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15888 infores:orphanet PMID:25848748 Assessed uuid:9783335e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10144 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:19367 infores:orphanet PMID:23583980 Assessed uuid:9783335f-d8a7-11f1-ae73-e4fade41113c NCBIGene:79991 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:26200 infores:orphanet PMID:23583980 Assessed uuid:97833360-d8a7-11f1-ae73-e4fade41113c NCBIGene:23250 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:13552 infores:orphanet PMID:23583980 Assessed uuid:97833361-d8a7-11f1-ae73-e4fade41113c NCBIGene:91039 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:18648 infores:orphanet PMID:23583980 Assessed uuid:97833362-d8a7-11f1-ae73-e4fade41113c NCBIGene:5073 biolink:contributes_to Orphanet:2032 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:8609 infores:orphanet PMID:25848748 Assessed uuid:97833363-d8a7-11f1-ae73-e4fade41113c NCBIGene:538 biolink:causes Orphanet:198 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:869 infores:orphanet PMID:20301586 Assessed uuid:97833364-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2514 infores:orphanet PMID:28575650 Assessed loss_of_function_variant_form uuid:97833365-d8a7-11f1-ae73-e4fade41113c NCBIGene:8322 biolink:causes Orphanet:891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4042 infores:orphanet PMID:20301326 Assessed uuid:97833366-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:causes Orphanet:891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6697 infores:orphanet PMID:20301326 Assessed uuid:97833367-d8a7-11f1-ae73-e4fade41113c NCBIGene:4693 biolink:causes Orphanet:891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7678 infores:orphanet PMID:20301506 Assessed uuid:97833368-d8a7-11f1-ae73-e4fade41113c NCBIGene:23554 biolink:causes Orphanet:891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21641 infores:orphanet PMID:20301326 Assessed uuid:97833369-d8a7-11f1-ae73-e4fade41113c NCBIGene:79797 biolink:causes Orphanet:891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20041 infores:orphanet PMID:23716659 Assessed uuid:9783336a-d8a7-11f1-ae73-e4fade41113c NCBIGene:55691 biolink:causes Orphanet:466688 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25491 infores:orphanet PMID:25388005 Assessed uuid:9783336b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:contributes_to Orphanet:466650 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10483 infores:orphanet PMID:23628358 Assessed uuid:9783336c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6597 biolink:causes Orphanet:466962 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11100 infores:orphanet PMID:26343384 Assessed uuid:9783336d-d8a7-11f1-ae73-e4fade41113c NCBIGene:51322 biolink:causes Orphanet:466950 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17327 infores:orphanet PMID:26264232 Assessed loss_of_function_variant_form uuid:9783336e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2132 biolink:causes Orphanet:466926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3513 infores:orphanet PMID:26246518 Assessed loss_of_function_variant_form uuid:9783336f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55823 biolink:causes Orphanet:466934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14583 infores:orphanet PMID:26307567 Assessed loss_of_function_variant_form uuid:97833370-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:466921 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12403 infores:orphanet PMID:26581302 Assessed loss_of_function_variant_form uuid:97833371-d8a7-11f1-ae73-e4fade41113c NCBIGene:342618 biolink:causes Orphanet:466806 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32689 infores:orphanet PMID:26280575 Assessed uuid:97833372-d8a7-11f1-ae73-e4fade41113c NCBIGene:57410 biolink:causes Orphanet:466794 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14372 infores:orphanet PMID:26581903 Assessed uuid:97833373-d8a7-11f1-ae73-e4fade41113c NCBIGene:4841 biolink:causes Orphanet:466791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7871 infores:orphanet PMID:26571461 Assessed loss_of_function_variant_form uuid:97833374-d8a7-11f1-ae73-e4fade41113c NCBIGene:115286 biolink:causes Orphanet:466784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20661 infores:orphanet PMID:26522469 Assessed loss_of_function_variant_form uuid:97833375-d8a7-11f1-ae73-e4fade41113c NCBIGene:80208 biolink:causes Orphanet:466775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11226 infores:orphanet PMID:26556829 Assessed uuid:97833376-d8a7-11f1-ae73-e4fade41113c NCBIGene:22880 biolink:causes Orphanet:466768 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23573 infores:orphanet PMID:26497905 Assessed uuid:97833377-d8a7-11f1-ae73-e4fade41113c NCBIGene:7021 biolink:causes Orphanet:466729 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11743 infores:orphanet PMID:21643846 Assessed uuid:97833378-d8a7-11f1-ae73-e4fade41113c NCBIGene:93166 biolink:causes Orphanet:466729 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9350 infores:orphanet PMID:27181681 Assessed loss_of_function_variant_form uuid:97833379-d8a7-11f1-ae73-e4fade41113c NCBIGene:10667 biolink:causes Orphanet:466722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21062 infores:orphanet PMID:26553276 Assessed loss_of_function_variant_form uuid:9783337a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7867 biolink:causes Orphanet:466718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6888 infores:orphanet PMID:26744326 Assessed uuid:9783337b-d8a7-11f1-ae73-e4fade41113c NCBIGene:147007 biolink:causes Orphanet:466703 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18085 infores:orphanet PMID:26833330 Assessed loss_of_function_variant_form uuid:9783337c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1147 biolink:causes Orphanet:465824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1974 infores:orphanet PMID:20961246 Assessed uuid:9783337d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2539 biolink:causes Orphanet:466026 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4057 infores:orphanet PMID:7577654 Assessed uuid:9783337e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10522 biolink:causes Orphanet:468620 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14677 infores:orphanet PMID:26048982 Assessed uuid:9783337f-d8a7-11f1-ae73-e4fade41113c NCBIGene:25914 biolink:causes Orphanet:468631 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18654 infores:orphanet PMID:26608784 Assessed uuid:97833380-d8a7-11f1-ae73-e4fade41113c NCBIGene:7846 biolink:causes Orphanet:467166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20766 infores:orphanet PMID:26130693 Assessed uuid:97833381-d8a7-11f1-ae73-e4fade41113c NCBIGene:347733 biolink:causes Orphanet:467166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30829 infores:orphanet PMID:26130693 Assessed uuid:97833382-d8a7-11f1-ae73-e4fade41113c NCBIGene:10381 biolink:causes Orphanet:467166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20772 infores:orphanet PMID:26130693 Assessed uuid:97833383-d8a7-11f1-ae73-e4fade41113c NCBIGene:51244 biolink:causes Orphanet:467176 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28033 infores:orphanet PMID:26358778 Assessed uuid:97833384-d8a7-11f1-ae73-e4fade41113c NCBIGene:5321 biolink:causes Orphanet:468635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9035 infores:orphanet PMID:23268370 Assessed loss_of_function_variant_form uuid:97833385-d8a7-11f1-ae73-e4fade41113c NCBIGene:6578 biolink:causes Orphanet:468641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10955 infores:orphanet PMID:26539716 Assessed loss_of_function_variant_form uuid:97833386-d8a7-11f1-ae73-e4fade41113c NCBIGene:200205 biolink:causes Orphanet:468661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27302 infores:orphanet PMID:25609768 Assessed uuid:97833387-d8a7-11f1-ae73-e4fade41113c NCBIGene:3709 biolink:causes Orphanet:468666 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6181 infores:orphanet PMID:25329695 Assessed loss_of_function_variant_form uuid:97833388-d8a7-11f1-ae73-e4fade41113c NCBIGene:23126 biolink:causes Orphanet:468678 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18801 infores:orphanet PMID:26739615 Assessed loss_of_function_variant_form uuid:97833389-d8a7-11f1-ae73-e4fade41113c NCBIGene:84317 biolink:causes Orphanet:468684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28178 infores:orphanet PMID:26833332 Assessed loss_of_function_variant_form uuid:9783338a-d8a7-11f1-ae73-e4fade41113c NCBIGene:51232 biolink:causes Orphanet:468672 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2359 infores:orphanet PMID:25561690 Assessed uuid:9783338b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2328 biolink:causes Orphanet:468726 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3771 infores:orphanet PMID:20301282|PMID:19321370 Assessed loss_of_function_variant_form uuid:9783338c-d8a7-11f1-ae73-e4fade41113c NCBIGene:64116 biolink:causes Orphanet:468699 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20862 infores:orphanet PMID:26637978|PMID:26637979 Assessed uuid:9783338d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5830 biolink:causes Orphanet:468717 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9719 infores:orphanet PMID:26220973 Assessed loss_of_function_variant_form uuid:9783338e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10613 biolink:causes Orphanet:401785 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16947 infores:orphanet PMID:24482476 Assessed uuid:9783338f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23204 biolink:causes Orphanet:401780 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:697 infores:orphanet PMID:24482476 Assessed uuid:97833390-d8a7-11f1-ae73-e4fade41113c NCBIGene:57599 biolink:causes Orphanet:401800 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30914 infores:orphanet PMID:24482476 Assessed uuid:97833391-d8a7-11f1-ae73-e4fade41113c NCBIGene:9101 biolink:causes Orphanet:401795 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12631 infores:orphanet PMID:24482476 Assessed uuid:97833392-d8a7-11f1-ae73-e4fade41113c NCBIGene:10367 biolink:causes Orphanet:401768 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1530 infores:orphanet PMID:24336167 Assessed loss_of_function_variant_form uuid:97833393-d8a7-11f1-ae73-e4fade41113c NCBIGene:375748 biolink:causes Orphanet:401764 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26922 infores:orphanet PMID:24507776 Assessed loss_of_function_variant_form uuid:97833394-d8a7-11f1-ae73-e4fade41113c NCBIGene:7025 biolink:causes Orphanet:401777 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7975 infores:orphanet PMID:24462372 Assessed loss_of_function_variant_form uuid:97833395-d8a7-11f1-ae73-e4fade41113c NCBIGene:25782 biolink:causes Orphanet:401830 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17168 infores:orphanet PMID:24482476 Assessed uuid:97833396-d8a7-11f1-ae73-e4fade41113c NCBIGene:4141 biolink:causes Orphanet:401835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6898 infores:orphanet PMID:24482476 Assessed uuid:97833397-d8a7-11f1-ae73-e4fade41113c NCBIGene:51663 biolink:causes Orphanet:401840 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17277 infores:orphanet PMID:24482476 Assessed uuid:97833398-d8a7-11f1-ae73-e4fade41113c NCBIGene:271 biolink:causes Orphanet:401805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:469 infores:orphanet PMID:24482476 Assessed uuid:97833399-d8a7-11f1-ae73-e4fade41113c NCBIGene:953 biolink:causes Orphanet:401810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3363 infores:orphanet PMID:24482476 Assessed uuid:9783339a-d8a7-11f1-ae73-e4fade41113c NCBIGene:340075 biolink:causes Orphanet:401815 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32521 infores:orphanet PMID:24482476 Assessed uuid:9783339b-d8a7-11f1-ae73-e4fade41113c NCBIGene:80055 biolink:causes Orphanet:401820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25712 infores:orphanet PMID:24482476 Assessed uuid:9783339c-d8a7-11f1-ae73-e4fade41113c NCBIGene:51218 biolink:causes Orphanet:401866 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20134 infores:orphanet PMID:24334290|PMID:24777537 Assessed uuid:9783339d-d8a7-11f1-ae73-e4fade41113c NCBIGene:27247 biolink:causes Orphanet:401869 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16287 infores:orphanet PMID:24334290|PMID:24777537 Assessed uuid:9783339e-d8a7-11f1-ae73-e4fade41113c NCBIGene:388962 biolink:causes Orphanet:401874 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24415 infores:orphanet PMID:24334290|PMID:24777537 Assessed uuid:9783339f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51308 biolink:causes Orphanet:401849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17975 infores:orphanet PMID:24388663 Assessed loss_of_function_variant_form uuid:978333a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:11019 biolink:causes Orphanet:401859 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16429 infores:orphanet PMID:24334290|PMID:24777537 Assessed uuid:978333a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:51601 biolink:causes Orphanet:401862 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29569 infores:orphanet PMID:24777537 Assessed uuid:978333a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3337 biolink:gene_associated_with_condition Orphanet:401920 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:5270 infores:orphanet PMID:24578576 Assessed uuid:978333a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5566 biolink:gene_associated_with_condition Orphanet:401920 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9380 infores:orphanet PMID:24578576 Assessed uuid:978333a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:8313 biolink:causes Orphanet:401911 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:904 infores:orphanet PMID:23838596 Assessed uuid:978333a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:203228 biolink:causes Orphanet:401901 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28337 infores:orphanet PMID:24363131 Assessed uuid:978333a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:402569 biolink:causes Orphanet:401959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21839 infores:orphanet PMID:24045845 Assessed uuid:978333a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:763 biolink:causes Orphanet:401948 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1377 infores:orphanet PMID:24530203 Assessed uuid:978333a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2982 biolink:causes Orphanet:401945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4685 infores:orphanet PMID:24581742 Assessed loss_of_function_variant_form uuid:978333a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4774 biolink:gene_associated_with_condition Orphanet:401986 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7784 infores:orphanet PMID:24462883 Assessed uuid:978333aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:51025 biolink:causes Orphanet:401979 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29679 infores:orphanet PMID:24786642 Assessed uuid:978333ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:10682 biolink:causes Orphanet:401973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3133 infores:orphanet PMID:24459067 Assessed uuid:978333ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:50717 biolink:causes Orphanet:401964 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24891 infores:orphanet PMID:24500646 Assessed uuid:978333ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:286887 biolink:causes Orphanet:402003 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20406 infores:orphanet PMID:21801157|PMID:19609311 Assessed uuid:978333ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:22909 biolink:causes Orphanet:401996 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29170 infores:orphanet PMID:22772369 Assessed uuid:978333af-d8a7-11f1-ae73-e4fade41113c NCBIGene:4297 biolink:gene_associated_with_condition Orphanet:402017 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7132 infores:orphanet PMID:19357394 Assessed uuid:978333b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4300 biolink:gene_associated_with_condition Orphanet:402017 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7136 infores:orphanet PMID:19357394 Assessed uuid:978333b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2122 biolink:gene_associated_with_condition Orphanet:402020 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3498 infores:orphanet PMID:19357394|PMID:20556821 Assessed uuid:978333b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6184 biolink:gene_associated_with_condition Orphanet:402020 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10381 infores:orphanet PMID:19357394|PMID:20556821 Assessed uuid:978333b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8021 biolink:gene_associated_with_condition Orphanet:402014 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8064 infores:orphanet PMID:19357394 Assessed uuid:978333b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7913 biolink:gene_associated_with_condition Orphanet:402014 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2768 infores:orphanet PMID:19357394 Assessed uuid:978333b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:64783 biolink:gene_associated_with_condition Orphanet:402023 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:14959 infores:orphanet PMID:19357394 Assessed uuid:978333b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:57591 biolink:gene_associated_with_condition Orphanet:402023 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:14334 infores:orphanet PMID:19357394 Assessed uuid:978333b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4869 biolink:causes Orphanet:402026 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7910 infores:orphanet PMID:19357394|PMID:23301224 Assessed uuid:978333b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5428 biolink:gene_associated_with_condition Orphanet:402082 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9179 infores:orphanet PMID:26942291 Assessed uuid:978333b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:166336 biolink:gene_associated_with_condition Orphanet:402082 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:20340 infores:orphanet PMID:21276947|PMID:26942291 Not yet assessed uuid:978333ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:9440 biolink:causes Orphanet:402364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2375 infores:orphanet PMID:20950787 Assessed uuid:978333bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:50617 biolink:causes Orphanet:402041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:866 infores:orphanet PMID:23729491 Assessed uuid:978333bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:525 biolink:causes Orphanet:402041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:853 infores:orphanet PMID:23729491 Assessed uuid:978333bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:256764 biolink:causes Orphanet:402041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26790 infores:orphanet PMID:30028003 Assessed uuid:978333be-d8a7-11f1-ae73-e4fade41113c NCBIGene:2299 biolink:causes Orphanet:402041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3815 infores:orphanet PMID:29242249 Assessed uuid:978333bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:4851 biolink:causes Orphanet:402075 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7881 infores:orphanet PMID:16025100 Assessed uuid:978333c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:causes Orphanet:402075 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2488 infores:orphanet PMID:25438918 Assessed loss_of_function_variant_form uuid:978333c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:140628 biolink:causes Orphanet:402075 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15802 infores:orphanet PMID:24638895 Assessed loss_of_function_variant_form uuid:978333c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4091 biolink:causes Orphanet:402075 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6772 infores:orphanet PMID:22275001 Assessed uuid:978333c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:54538 biolink:causes Orphanet:402075 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17985 infores:orphanet PMID:30455415 Assessed uuid:978333c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:196527 biolink:causes Orphanet:806 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25240 infores:orphanet PMID:21107324|PMID:21511967 Assessed uuid:978333c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:404473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2514 infores:orphanet PMID:24614104 Assessed uuid:978333c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:59 biolink:causes Orphanet:404463 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:130 infores:orphanet PMID:20734336 Assessed uuid:978333c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:22917 biolink:causes Orphanet:404466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13187 infores:orphanet PMID:24670168 Assessed uuid:978333c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7783 biolink:causes Orphanet:404466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13188 infores:orphanet PMID:28646452 Assessed uuid:978333c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7784 biolink:causes Orphanet:404466 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13189 infores:orphanet PMID:28886340 Assessed loss_of_function_variant_form uuid:978333ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:2192 biolink:causes Orphanet:404451 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3600 infores:orphanet PMID:24084572 Assessed uuid:978333cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:55768 biolink:causes Orphanet:404454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17646 infores:orphanet PMID:24651605 Assessed loss_of_function_variant_form uuid:978333cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1788 biolink:causes Orphanet:404443 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2978 infores:orphanet PMID:24614070|PMID:27701732 Assessed uuid:978333cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:23394 biolink:causes Orphanet:404448 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15766 infores:orphanet PMID:24531329 Assessed uuid:978333ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:5859 biolink:causes Orphanet:404437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9751 infores:orphanet PMID:24656866 Assessed loss_of_function_variant_form uuid:978333cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:causes Orphanet:404560 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1787 infores:orphanet PMID:21249757 Assessed uuid:978333d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:51816 biolink:causes Orphanet:404553 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1839 infores:orphanet PMID:24552284|PMID:24552285 Assessed loss_of_function_variant_form uuid:978333d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:26525 biolink:causes Orphanet:404546 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15561 infores:orphanet PMID:24131530 Assessed loss_of_function_variant_form uuid:978333d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:81887 biolink:causes Orphanet:404521 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25726 infores:orphanet PMID:24647030 Assessed uuid:978333d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4286 biolink:contributes_to Orphanet:404511 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7105 infores:orphanet PMID:22012259 Assessed uuid:978333d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6927 biolink:gene_associated_with_condition Orphanet:404511 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:11621 infores:orphanet PMID:8620471|PMID:15649945 Not yet assessed uuid:978333d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:55654 biolink:contributes_to Orphanet:404511 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:26038 infores:orphanet PMID:24334765 Assessed uuid:978333d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:55193 biolink:contributes_to Orphanet:404511 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:30064 infores:orphanet PMID:25911086 Assessed uuid:978333d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2911 biolink:gene_associated_with_condition Orphanet:404507 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4593 infores:orphanet PMID:24658000 Assessed uuid:978333d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9711 biolink:causes Orphanet:404499 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28991 infores:orphanet PMID:23728897 Assessed uuid:978333d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:51567 biolink:causes Orphanet:404493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17768 infores:orphanet PMID:24658003 Assessed uuid:978333da-d8a7-11f1-ae73-e4fade41113c NCBIGene:23405 biolink:causes Orphanet:404476 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:17098 infores:orphanet PMID:24676357 Assessed uuid:978333db-d8a7-11f1-ae73-e4fade41113c NCBIGene:5631 biolink:causes Orphanet:411536 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9462 infores:orphanet PMID:20301734 Assessed loss_of_function_variant_form uuid:978333dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:5631 biolink:causes Orphanet:411543 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9462 infores:orphanet PMID:20301734 Assessed gain_of_function_variant_form uuid:978333dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:7466 biolink:causes Orphanet:411590 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12762 infores:orphanet PMID:20069065|PMID:20301750 Assessed uuid:978333de-d8a7-11f1-ae73-e4fade41113c NCBIGene:6622 biolink:causes Orphanet:411602 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11138 infores:orphanet PMID:17489854|PMID:18704525|PMID:20013014|PMID:24768741 Assessed gain_of_function_variant_form uuid:978333df-d8a7-11f1-ae73-e4fade41113c NCBIGene:2629 biolink:contributes_to Orphanet:411602 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4177 infores:orphanet PMID:18987351 Assessed uuid:978333e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:120892 biolink:causes Orphanet:411602 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:18618 infores:orphanet PMID:22166458 Assessed gain_of_function_variant_form uuid:978333e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:26058 biolink:gene_associated_with_condition Orphanet:411602 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11960 infores:orphanet Not yet assessed uuid:978333e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1981 biolink:gene_associated_with_condition Orphanet:411602 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3296 infores:orphanet Not yet assessed uuid:978333e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:55737 biolink:causes Orphanet:411602 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13487 infores:orphanet PMID:22166458 Assessed uuid:978333e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:23317 biolink:causes Orphanet:411602 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:30343 infores:orphanet PMID:24218364 Assessed gain_of_function_variant_form uuid:978333e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1497 biolink:causes Orphanet:411629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2518 infores:orphanet PMID:20301574 Assessed uuid:978333e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10978 biolink:causes Orphanet:411493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16999 infores:orphanet PMID:24766809|PMID:24766810 Assessed loss_of_function_variant_form uuid:978333e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7337 biolink:causes Orphanet:411511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12496 infores:orphanet PMID:22670133|PMID:24876791|PMID:25212744|PMID:20301323 Assessed loss_of_function_variant_form uuid:978333e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6638 biolink:gene_associated_with_condition Orphanet:411515 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11164 infores:orphanet PMID:17347796|PMID:22670133|PMID:24876791|PMID:25212744|PMID:20301323 Assessed uuid:978333e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7337 biolink:gene_associated_with_condition Orphanet:411515 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12496 infores:orphanet PMID:17347796|PMID:22670133|PMID:24876791|PMID:25212744|PMID:20301323 Assessed uuid:978333ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:57194 biolink:gene_associated_with_condition Orphanet:411515 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:13542 infores:orphanet PMID:11326269|PMID:17347796 Assessed uuid:978333eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:55065 biolink:causes Orphanet:411712 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30225 infores:orphanet PMID:17689999|PMID:21089064 Assessed uuid:978333ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:2250 biolink:causes Orphanet:411788 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3683 infores:orphanet PMID:24989505 Assessed uuid:978333ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:85440 biolink:causes Orphanet:411986 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19190 infores:orphanet PMID:24814191 Assessed loss_of_function_variant_form uuid:978333ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:444 biolink:causes Orphanet:412022 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:757 infores:orphanet PMID:24768550 Assessed uuid:978333ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:1497 biolink:causes Orphanet:411641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2518 infores:orphanet PMID:20301574 Assessed uuid:978333f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1497 biolink:causes Orphanet:411634 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2518 infores:orphanet PMID:20301574 Assessed uuid:978333f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4313 biolink:causes Orphanet:371428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7166 infores:orphanet PMID:22922033 Assessed uuid:978333f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4323 biolink:causes Orphanet:371428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7160 infores:orphanet PMID:22922033 Assessed uuid:978333f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:51594 biolink:causes Orphanet:391677 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15625 infores:orphanet PMID:20577004 Assessed uuid:978333f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:257 biolink:causes Orphanet:391474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:449 infores:orphanet PMID:19409524 Assessed loss_of_function_variant_form uuid:978333f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6772 biolink:causes Orphanet:391487 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11362 infores:orphanet PMID:23534974 Assessed gain_of_function_variant_form uuid:978333f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:407975 biolink:causes Orphanet:391646 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23564 infores:orphanet PMID:21892160 Assessed uuid:978333f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4613 biolink:causes Orphanet:391641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7559 infores:orphanet PMID:18470948|PMID:15821734|PMID:20301770 Assessed uuid:978333f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:64240 biolink:gene_associated_with_condition Orphanet:391665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:13886 infores:orphanet PMID:20172523 Not yet assessed uuid:978333f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:64241 biolink:gene_associated_with_condition Orphanet:391665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:13887 infores:orphanet PMID:20172523 Not yet assessed uuid:978333fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:338 biolink:causes Orphanet:391665 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:603 infores:orphanet PMID:24404629 Assessed uuid:978333fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3949 biolink:causes Orphanet:391665 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6547 infores:orphanet PMID:24404629 Assessed uuid:978333fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:26119 biolink:causes Orphanet:391665 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18640 infores:orphanet PMID:11326085 Assessed uuid:978333fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:255738 biolink:causes Orphanet:391665 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20001 infores:orphanet PMID:24404629 Assessed uuid:978333fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:5551 biolink:causes Orphanet:391343 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9360 infores:orphanet PMID:23443029 Assessed uuid:978333ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:119559 biolink:causes Orphanet:391348 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16088 infores:orphanet PMID:24119684 Assessed loss_of_function_variant_form uuid:97833400-d8a7-11f1-ae73-e4fade41113c NCBIGene:6834 biolink:causes Orphanet:391351 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11474 infores:orphanet PMID:24027061 Assessed uuid:97833401-d8a7-11f1-ae73-e4fade41113c NCBIGene:10019 biolink:causes Orphanet:391366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29605 infores:orphanet PMID:23908464 Assessed uuid:97833402-d8a7-11f1-ae73-e4fade41113c NCBIGene:27086 biolink:causes Orphanet:391372 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3823 infores:orphanet PMID:24214399 Assessed uuid:97833403-d8a7-11f1-ae73-e4fade41113c NCBIGene:440 biolink:causes Orphanet:391376 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:753 infores:orphanet PMID:24139043 Assessed loss_of_function_variant_form uuid:97833404-d8a7-11f1-ae73-e4fade41113c NCBIGene:8989 biolink:causes Orphanet:391389 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:497 infores:orphanet PMID:20547126 Assessed gain_of_function_variant_form uuid:97833405-d8a7-11f1-ae73-e4fade41113c NCBIGene:11280 biolink:causes Orphanet:391392 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10583 infores:orphanet PMID:24207120 Assessed gain_of_function_variant_form uuid:97833406-d8a7-11f1-ae73-e4fade41113c NCBIGene:11280 biolink:causes Orphanet:391397 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10583 infores:orphanet PMID:24036948 Assessed gain_of_function_variant_form uuid:97833407-d8a7-11f1-ae73-e4fade41113c NCBIGene:93587 biolink:causes Orphanet:391408 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28403 infores:orphanet PMID:24204302 Assessed uuid:97833408-d8a7-11f1-ae73-e4fade41113c NCBIGene:84919 biolink:causes Orphanet:391408 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14951 infores:orphanet PMID:26159176|PMID:26307080 Assessed loss_of_function_variant_form uuid:97833409-d8a7-11f1-ae73-e4fade41113c NCBIGene:9829 biolink:causes Orphanet:391411 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15469 infores:orphanet PMID:22563501|PMID:23211418 Assessed uuid:9783340a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8867 biolink:causes Orphanet:391411 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11503 infores:orphanet PMID:23804563|PMID:23804577 Assessed uuid:9783340b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5420 biolink:causes Orphanet:391411 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9171 infores:orphanet PMID:26864383 Assessed uuid:9783340c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3028 biolink:causes Orphanet:391428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4800 infores:orphanet PMID:22127393 Assessed uuid:9783340d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3028 biolink:causes Orphanet:391457 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4800 infores:orphanet PMID:22127393 Assessed uuid:9783340e-d8a7-11f1-ae73-e4fade41113c NCBIGene:80185 biolink:causes Orphanet:391307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26262 infores:orphanet PMID:23956177 Assessed uuid:9783340f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10188 biolink:causes Orphanet:391316 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19297 infores:orphanet PMID:23686771 Assessed uuid:97833410-d8a7-11f1-ae73-e4fade41113c NCBIGene:6772 biolink:causes Orphanet:391311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11362 infores:orphanet PMID:23403048|PMID:23534974|PMID:23541320 Assessed uuid:97833411-d8a7-11f1-ae73-e4fade41113c NCBIGene:2153 biolink:causes Orphanet:391320 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3542 infores:orphanet PMID:23979162 Assessed gain_of_function_variant_form uuid:97833412-d8a7-11f1-ae73-e4fade41113c NCBIGene:5358 biolink:causes Orphanet:391330 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9091 infores:orphanet PMID:24088043 Assessed loss_of_function_variant_form uuid:97833413-d8a7-11f1-ae73-e4fade41113c NCBIGene:23321 biolink:causes Orphanet:397968 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15974 infores:orphanet PMID:23562820 Assessed loss_of_function_variant_form uuid:97833414-d8a7-11f1-ae73-e4fade41113c NCBIGene:10892 biolink:causes Orphanet:397964 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6819 infores:orphanet PMID:23727036|PMID:24332264 Assessed uuid:97833415-d8a7-11f1-ae73-e4fade41113c NCBIGene:28755 biolink:causes Orphanet:397959 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12029 infores:orphanet PMID:21206088 Assessed uuid:97833416-d8a7-11f1-ae73-e4fade41113c NCBIGene:6873 biolink:causes Orphanet:397951 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11536 infores:orphanet PMID:24084144 Assessed uuid:97833417-d8a7-11f1-ae73-e4fade41113c NCBIGene:10749 biolink:causes Orphanet:397946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6317 infores:orphanet PMID:24319291|PMID:24482476 Assessed loss_of_function_variant_form uuid:97833418-d8a7-11f1-ae73-e4fade41113c NCBIGene:11253 biolink:causes Orphanet:397941 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6823 infores:orphanet PMID:24348268 Assessed uuid:97833419-d8a7-11f1-ae73-e4fade41113c NCBIGene:10616 biolink:causes Orphanet:397937 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15864 infores:orphanet PMID:23798481|PMID:23674175 Assessed loss_of_function_variant_form uuid:9783341a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23096 biolink:causes Orphanet:397933 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29059 infores:orphanet PMID:23674175 Assessed loss_of_function_variant_form uuid:9783341b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6862 biolink:causes Orphanet:397927 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11515 infores:orphanet PMID:24253444 Assessed loss_of_function_variant_form uuid:9783341c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5277 biolink:causes Orphanet:397922 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8957 infores:orphanet PMID:24259288 Assessed uuid:9783341d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3551 biolink:causes Orphanet:397787 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5960 infores:orphanet PMID:24369075 Assessed loss_of_function_variant_form uuid:9783341e-d8a7-11f1-ae73-e4fade41113c NCBIGene:779 biolink:causes Orphanet:397755 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1397 infores:orphanet PMID:24240197 Assessed uuid:9783341f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9445 biolink:causes Orphanet:397758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6174 infores:orphanet PMID:24026677 Assessed uuid:97833420-d8a7-11f1-ae73-e4fade41113c NCBIGene:79784 biolink:causes Orphanet:397744 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23212 infores:orphanet PMID:21480433 Assessed uuid:97833421-d8a7-11f1-ae73-e4fade41113c NCBIGene:4508 biolink:causes Orphanet:397750 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7414 infores:orphanet PMID:24153443 Assessed uuid:97833422-d8a7-11f1-ae73-e4fade41113c NCBIGene:4509 biolink:causes Orphanet:397750 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7415 infores:orphanet PMID:24153443 Assessed uuid:97833423-d8a7-11f1-ae73-e4fade41113c NCBIGene:80347 biolink:causes Orphanet:397725 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29932 infores:orphanet PMID:24360804 Assessed uuid:97833424-d8a7-11f1-ae73-e4fade41113c NCBIGene:4141 biolink:causes Orphanet:397735 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6898 infores:orphanet PMID:23729695 Assessed loss_of_function_variant_form uuid:97833425-d8a7-11f1-ae73-e4fade41113c NCBIGene:57231 biolink:causes Orphanet:397709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14977 infores:orphanet PMID:25439728 Assessed loss_of_function_variant_form uuid:97833426-d8a7-11f1-ae73-e4fade41113c NCBIGene:79848 biolink:causes Orphanet:397715 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26193 infores:orphanet PMID:24360808 Assessed loss_of_function_variant_form uuid:97833427-d8a7-11f1-ae73-e4fade41113c NCBIGene:9786 biolink:causes Orphanet:397715 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19960 infores:orphanet PMID:26386044 Assessed loss_of_function_variant_form uuid:97833428-d8a7-11f1-ae73-e4fade41113c NCBIGene:145258 biolink:causes Orphanet:397623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4612 infores:orphanet PMID:24290375 Assessed loss_of_function_variant_form uuid:97833429-d8a7-11f1-ae73-e4fade41113c NCBIGene:5618 biolink:causes Orphanet:397685 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9446 infores:orphanet PMID:24195502 Assessed loss_of_function_variant_form uuid:9783342a-d8a7-11f1-ae73-e4fade41113c NCBIGene:84984 biolink:causes Orphanet:397615 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28209 infores:orphanet PMID:24268657 Assessed loss_of_function_variant_form uuid:9783342b-d8a7-11f1-ae73-e4fade41113c NCBIGene:146167 biolink:causes Orphanet:397618 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:32434 infores:orphanet PMID:24290379 Assessed loss_of_function_variant_form uuid:9783342c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57128 biolink:causes Orphanet:397593 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21365 infores:orphanet PMID:23814038 Assessed uuid:9783342d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9054 biolink:causes Orphanet:397593 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15910 infores:orphanet PMID:24498631 Assessed uuid:9783342e-d8a7-11f1-ae73-e4fade41113c NCBIGene:11133 biolink:causes Orphanet:397612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6404 infores:orphanet PMID:24239382 Assessed loss_of_function_variant_form uuid:9783342f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5621 biolink:causes Orphanet:397606 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9449 infores:orphanet PMID:24224623 Assessed uuid:97833430-d8a7-11f1-ae73-e4fade41113c NCBIGene:1028 biolink:causes Orphanet:397590 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1786 infores:orphanet PMID:24065356 Assessed gain_of_function_variant_form uuid:97833431-d8a7-11f1-ae73-e4fade41113c NCBIGene:3481 biolink:causes Orphanet:397590 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5466 infores:orphanet PMID:26154720 Assessed uuid:97833432-d8a7-11f1-ae73-e4fade41113c NCBIGene:8091 biolink:causes Orphanet:397590 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5009 infores:orphanet PMID:29655892 Assessed uuid:97833433-d8a7-11f1-ae73-e4fade41113c NCBIGene:5324 biolink:causes Orphanet:397590 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9045 infores:orphanet PMID:28796236 Assessed uuid:97833434-d8a7-11f1-ae73-e4fade41113c NCBIGene:2108 biolink:causes Orphanet:394532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3481 infores:orphanet Assessed uuid:97833435-d8a7-11f1-ae73-e4fade41113c NCBIGene:2109 biolink:causes Orphanet:394532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3482 infores:orphanet Assessed uuid:97833436-d8a7-11f1-ae73-e4fade41113c NCBIGene:2110 biolink:causes Orphanet:394532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3483 infores:orphanet Assessed uuid:97833437-d8a7-11f1-ae73-e4fade41113c NCBIGene:80308 biolink:causes Orphanet:394532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24671 infores:orphanet PMID:28433476 Assessed loss_of_function_variant_form uuid:97833438-d8a7-11f1-ae73-e4fade41113c NCBIGene:81034 biolink:causes Orphanet:394532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29683 infores:orphanet PMID:28443623|PMID:26933868 Assessed uuid:97833439-d8a7-11f1-ae73-e4fade41113c NCBIGene:2108 biolink:causes Orphanet:394529 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3481 infores:orphanet Assessed uuid:9783343a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2109 biolink:causes Orphanet:394529 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3482 infores:orphanet Assessed uuid:9783343b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2110 biolink:causes Orphanet:394529 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3483 infores:orphanet Assessed uuid:9783343c-d8a7-11f1-ae73-e4fade41113c NCBIGene:80308 biolink:causes Orphanet:394529 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24671 infores:orphanet PMID:27259049 Assessed loss_of_function_variant_form uuid:9783343d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10734 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11356 infores:orphanet PMID:31125047|PMID:31682730 Assessed uuid:9783343e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6875 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11538 infores:orphanet PMID:24431330 Assessed uuid:9783343f-d8a7-11f1-ae73-e4fade41113c NCBIGene:84225 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20997 infores:orphanet PMID:24431330 Assessed uuid:97833440-d8a7-11f1-ae73-e4fade41113c NCBIGene:93426 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28852 infores:orphanet PMID:25899990 Assessed uuid:97833441-d8a7-11f1-ae73-e4fade41113c NCBIGene:56159 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11733 infores:orphanet PMID:25970010 Assessed loss_of_function_variant_form uuid:97833442-d8a7-11f1-ae73-e4fade41113c NCBIGene:50511 biolink:gene_associated_with_condition Orphanet:399805 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:18130 infores:orphanet PMID:14643120|PMID:16213863 Not yet assessed uuid:97833443-d8a7-11f1-ae73-e4fade41113c NCBIGene:317719 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18829 infores:orphanet PMID:17047026 Assessed uuid:97833444-d8a7-11f1-ae73-e4fade41113c NCBIGene:196385 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2941 infores:orphanet PMID:34237282 Assessed uuid:97833445-d8a7-11f1-ae73-e4fade41113c NCBIGene:4439 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7328 infores:orphanet PMID:34755185 Assessed uuid:97833446-d8a7-11f1-ae73-e4fade41113c NCBIGene:254528 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28569 infores:orphanet PMID:28206990 Assessed uuid:97833447-d8a7-11f1-ae73-e4fade41113c NCBIGene:122402 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20122 infores:orphanet PMID:28536242 Assessed uuid:97833448-d8a7-11f1-ae73-e4fade41113c NCBIGene:200162 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26620 infores:orphanet PMID:28548327 Assessed uuid:97833449-d8a7-11f1-ae73-e4fade41113c NCBIGene:56154 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11738 infores:orphanet PMID:29048736 Assessed uuid:9783344a-d8a7-11f1-ae73-e4fade41113c NCBIGene:56155 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11737 infores:orphanet PMID:29790874 Assessed uuid:9783344b-d8a7-11f1-ae73-e4fade41113c NCBIGene:317761 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19849 infores:orphanet PMID:33508233 Assessed uuid:9783344c-d8a7-11f1-ae73-e4fade41113c NCBIGene:154197 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21185 infores:orphanet PMID:34347949 Assessed uuid:9783344d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5161 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8807 infores:orphanet PMID:29581481 Assessed uuid:9783344e-d8a7-11f1-ae73-e4fade41113c NCBIGene:125150 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26993 infores:orphanet PMID:32719396|PMID:33713115 Assessed uuid:9783344f-d8a7-11f1-ae73-e4fade41113c NCBIGene:144132 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26532 infores:orphanet PMID:34932939 Assessed uuid:97833450-d8a7-11f1-ae73-e4fade41113c NCBIGene:91057 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25079 infores:orphanet PMID:34348960 Assessed uuid:97833451-d8a7-11f1-ae73-e4fade41113c NCBIGene:54967 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26047 infores:orphanet PMID:36481789 Assessed uuid:97833452-d8a7-11f1-ae73-e4fade41113c NCBIGene:140801 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17976 infores:orphanet PMID:32111475 Assessed loss_of_function_variant_form uuid:97833453-d8a7-11f1-ae73-e4fade41113c NCBIGene:375307 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25062 infores:orphanet PMID:32503832 Assessed uuid:97833454-d8a7-11f1-ae73-e4fade41113c NCBIGene:285498 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27729 infores:orphanet PMID:31125047 Assessed uuid:97833455-d8a7-11f1-ae73-e4fade41113c NCBIGene:283847 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26675 infores:orphanet PMID:32741963 Assessed uuid:97833456-d8a7-11f1-ae73-e4fade41113c NCBIGene:145645 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28520 infores:orphanet PMID:33211200 Assessed uuid:97833457-d8a7-11f1-ae73-e4fade41113c NCBIGene:54456 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7201 infores:orphanet PMID:35476666 Assessed uuid:97833458-d8a7-11f1-ae73-e4fade41113c NCBIGene:286151 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28521 infores:orphanet PMID:30878252 Assessed uuid:97833459-d8a7-11f1-ae73-e4fade41113c NCBIGene:158401 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26535 infores:orphanet PMID:32741963 Assessed uuid:9783345a-d8a7-11f1-ae73-e4fade41113c NCBIGene:93953 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15805 infores:orphanet PMID:34413498 Assessed uuid:9783345b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6691 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11245 infores:orphanet PMID:28554943 Assessed uuid:9783345c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1080 biolink:contributes_to Orphanet:399805 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1884 infores:orphanet PMID:22709980 Assessed uuid:9783345d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57697 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23168 infores:orphanet PMID:30075111 Assessed loss_of_function_variant_form uuid:9783345e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2516 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7983 infores:orphanet PMID:20887963 Assessed uuid:9783345f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7516 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12829 infores:orphanet PMID:30042186 Assessed uuid:97833460-d8a7-11f1-ae73-e4fade41113c NCBIGene:402381 biolink:contributes_to Orphanet:399805 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:27845 infores:orphanet PMID:20506135 Assessed uuid:97833461-d8a7-11f1-ae73-e4fade41113c NCBIGene:340719 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23044 infores:orphanet PMID:23315541 Assessed uuid:97833462-d8a7-11f1-ae73-e4fade41113c NCBIGene:5931 biolink:causes Orphanet:399805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9890 infores:orphanet PMID:35809576|PMID:37843278 Assessed uuid:97833463-d8a7-11f1-ae73-e4fade41113c NCBIGene:1410 biolink:causes Orphanet:399058 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2389 infores:orphanet PMID:20171888 Assessed uuid:97833464-d8a7-11f1-ae73-e4fade41113c NCBIGene:9210 biolink:contributes_to Orphanet:398987 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1068 infores:orphanet PMID:38427603 Assessed uuid:97833465-d8a7-11f1-ae73-e4fade41113c NCBIGene:3178 biolink:causes Orphanet:399086 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5031 infores:orphanet PMID:34722876 Assessed uuid:97833466-d8a7-11f1-ae73-e4fade41113c NCBIGene:55958 biolink:causes Orphanet:399081 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18732 infores:orphanet PMID:20554658 Assessed uuid:97833467-d8a7-11f1-ae73-e4fade41113c NCBIGene:4703 biolink:causes Orphanet:399103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7720 infores:orphanet PMID:17525139 Assessed uuid:97833468-d8a7-11f1-ae73-e4fade41113c NCBIGene:203859 biolink:causes Orphanet:399096 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27337 infores:orphanet PMID:22980764 Assessed uuid:97833469-d8a7-11f1-ae73-e4fade41113c NCBIGene:340665 biolink:causes Orphanet:398189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20577 infores:orphanet PMID:23161670 Assessed loss_of_function_variant_form uuid:9783346a-d8a7-11f1-ae73-e4fade41113c NCBIGene:54551 biolink:causes Orphanet:398069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6814 infores:orphanet PMID:24076603 Assessed loss_of_function_variant_form uuid:9783346b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6492 biolink:causes Orphanet:398079 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10882 infores:orphanet PMID:23778136 Assessed loss_of_function_variant_form uuid:9783346c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6521 biolink:causes Orphanet:398088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11027 infores:orphanet PMID:16227998 Assessed uuid:9783346d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3763 biolink:causes Orphanet:435628 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6267 infores:orphanet PMID:25620207 Assessed uuid:9783346e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3991 biolink:causes Orphanet:435660 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6621 infores:orphanet PMID:25475467 Assessed uuid:9783346f-d8a7-11f1-ae73-e4fade41113c NCBIGene:63924 biolink:causes Orphanet:435651 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24229 infores:orphanet PMID:20049731 Assessed loss_of_function_variant_form uuid:97833470-d8a7-11f1-ae73-e4fade41113c NCBIGene:6529 biolink:gene_associated_with_condition Orphanet:435638 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11042 infores:orphanet PMID:25256099 Assessed uuid:97833471-d8a7-11f1-ae73-e4fade41113c NCBIGene:6538 biolink:gene_associated_with_condition Orphanet:435638 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11044 infores:orphanet PMID:25256099 Assessed uuid:97833472-d8a7-11f1-ae73-e4fade41113c NCBIGene:176 biolink:causes Orphanet:435804 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:319 infores:orphanet PMID:24762113 Assessed loss_of_function_variant_form uuid:97833473-d8a7-11f1-ae73-e4fade41113c NCBIGene:221927 biolink:causes Orphanet:435845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21701 infores:orphanet PMID:25500575 Assessed uuid:97833474-d8a7-11f1-ae73-e4fade41113c NCBIGene:4990 biolink:causes Orphanet:435930 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10892 infores:orphanet PMID:24702266|PMID:23167593 Assessed uuid:97833475-d8a7-11f1-ae73-e4fade41113c NCBIGene:10342 biolink:causes Orphanet:435819 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11758 infores:orphanet PMID:25098539 Assessed gain_of_function_variant_form uuid:97833476-d8a7-11f1-ae73-e4fade41113c NCBIGene:83932 biolink:causes Orphanet:435953 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25356 infores:orphanet PMID:25261934 Assessed loss_of_function_variant_form uuid:97833477-d8a7-11f1-ae73-e4fade41113c NCBIGene:151648 biolink:causes Orphanet:435988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25088 infores:orphanet PMID:25282101 Assessed uuid:97833478-d8a7-11f1-ae73-e4fade41113c NCBIGene:22796 biolink:causes Orphanet:435934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6546 infores:orphanet PMID:24784932 Assessed loss_of_function_variant_form uuid:97833479-d8a7-11f1-ae73-e4fade41113c NCBIGene:6134 biolink:causes Orphanet:435938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10298 infores:orphanet PMID:25316788 Assessed loss_of_function_variant_form uuid:9783347a-d8a7-11f1-ae73-e4fade41113c NCBIGene:54681 biolink:causes Orphanet:436141 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28858 infores:orphanet PMID:35908151 Assessed uuid:9783347b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1028 biolink:causes Orphanet:436144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1786 infores:orphanet PMID:25057881 Assessed gain_of_function_variant_form uuid:9783347c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1337 biolink:causes Orphanet:435998 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2277 infores:orphanet PMID:25152455 Assessed loss_of_function_variant_form uuid:9783347d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1493 biolink:causes Orphanet:436159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2505 infores:orphanet PMID:25213377 Assessed uuid:9783347e-d8a7-11f1-ae73-e4fade41113c NCBIGene:26040 biolink:causes Orphanet:436151 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15573 infores:orphanet PMID:38923504|PMID:33867525 Assessed loss_of_function_variant_form uuid:9783347f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7056 biolink:causes Orphanet:436169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11784 infores:orphanet PMID:25049278|PMID:25564403 Assessed gain_of_function_variant_form uuid:97833480-d8a7-11f1-ae73-e4fade41113c NCBIGene:58484 biolink:causes Orphanet:436166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:16412 infores:orphanet PMID:25217960|PMID:25217959 Assessed gain_of_function_variant_form uuid:97833481-d8a7-11f1-ae73-e4fade41113c NCBIGene:286053 biolink:causes Orphanet:436182 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26513 infores:orphanet PMID:25105364 Assessed loss_of_function_variant_form uuid:97833482-d8a7-11f1-ae73-e4fade41113c NCBIGene:7518 biolink:causes Orphanet:436182 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12831 infores:orphanet PMID:25728776 Assessed uuid:97833483-d8a7-11f1-ae73-e4fade41113c NCBIGene:55699 biolink:causes Orphanet:436174 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29685 infores:orphanet PMID:25130867 Assessed loss_of_function_variant_form uuid:97833484-d8a7-11f1-ae73-e4fade41113c NCBIGene:51109 biolink:causes Orphanet:436245 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17964 infores:orphanet PMID:24916380 Assessed loss_of_function_variant_form uuid:97833485-d8a7-11f1-ae73-e4fade41113c NCBIGene:51086 biolink:causes Orphanet:436242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19661 infores:orphanet PMID:24925317 Assessed uuid:97833486-d8a7-11f1-ae73-e4fade41113c NCBIGene:84334 biolink:causes Orphanet:436271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20492 infores:orphanet PMID:25175347 Assessed uuid:97833487-d8a7-11f1-ae73-e4fade41113c NCBIGene:57217 biolink:causes Orphanet:436252 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19750 infores:orphanet PMID:24417819|PMID:25174867 Assessed loss_of_function_variant_form uuid:97833488-d8a7-11f1-ae73-e4fade41113c NCBIGene:5297 biolink:causes Orphanet:436252 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8983 infores:orphanet PMID:34415310 Assessed uuid:97833489-d8a7-11f1-ae73-e4fade41113c NCBIGene:2677 biolink:causes Orphanet:436274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4247 infores:orphanet PMID:24739904 Assessed uuid:9783348a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2214 biolink:causes Orphanet:437552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3619 infores:orphanet PMID:23006327 Assessed uuid:9783348b-d8a7-11f1-ae73-e4fade41113c NCBIGene:84188 biolink:causes Orphanet:438178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26222 infores:orphanet PMID:25439727 Assessed uuid:9783348c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6774 biolink:causes Orphanet:438159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11364 infores:orphanet PMID:25038750 Assessed gain_of_function_variant_form uuid:9783348d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5111 biolink:causes Orphanet:438134 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8729 infores:orphanet PMID:24911150 Assessed uuid:9783348e-d8a7-11f1-ae73-e4fade41113c NCBIGene:85301 biolink:causes Orphanet:438117 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22986 infores:orphanet PMID:24986830 Assessed uuid:9783348f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5917 biolink:causes Orphanet:438114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9870 infores:orphanet PMID:24777941 Assessed uuid:97833490-d8a7-11f1-ae73-e4fade41113c NCBIGene:6566 biolink:causes Orphanet:438075 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10922 infores:orphanet PMID:25390740 Assessed loss_of_function_variant_form uuid:97833491-d8a7-11f1-ae73-e4fade41113c NCBIGene:2642 biolink:causes Orphanet:438274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4192 infores:orphanet PMID:19657311|PMID:25914784 Assessed uuid:97833492-d8a7-11f1-ae73-e4fade41113c NCBIGene:5813 biolink:causes Orphanet:438216 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9701 infores:orphanet PMID:25342064 Assessed uuid:97833493-d8a7-11f1-ae73-e4fade41113c NCBIGene:10020 biolink:causes Orphanet:438207 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23657 infores:orphanet PMID:30171045 Assessed uuid:97833494-d8a7-11f1-ae73-e4fade41113c NCBIGene:5568 biolink:causes Orphanet:438207 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9382 infores:orphanet PMID:25061177 Assessed loss_of_function_variant_form uuid:97833495-d8a7-11f1-ae73-e4fade41113c NCBIGene:84466 biolink:causes Orphanet:439212 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29634 infores:orphanet PMID:22101682|PMID:23453856 Assessed uuid:97833496-d8a7-11f1-ae73-e4fade41113c NCBIGene:3785 biolink:causes Orphanet:439218 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6296 infores:orphanet PMID:23621294|PMID:20437616 Assessed uuid:97833497-d8a7-11f1-ae73-e4fade41113c NCBIGene:5144 biolink:causes Orphanet:439822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8783 infores:orphanet PMID:24203977 Assessed loss_of_function_variant_form uuid:97833498-d8a7-11f1-ae73-e4fade41113c NCBIGene:51422 biolink:causes Orphanet:439854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9386 infores:orphanet PMID:15877279|PMID:17667862 Assessed uuid:97833499-d8a7-11f1-ae73-e4fade41113c NCBIGene:9928 biolink:causes Orphanet:439897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19181 infores:orphanet PMID:24128419 Assessed loss_of_function_variant_form uuid:9783349a-d8a7-11f1-ae73-e4fade41113c NCBIGene:21 biolink:causes Orphanet:440402 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:33 infores:orphanet PMID:22018035 Assessed loss_of_function_variant_form uuid:9783349b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1301 biolink:causes Orphanet:440354 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2186 infores:orphanet PMID:25091507 Assessed uuid:9783349c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6440 biolink:causes Orphanet:440392 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10802 infores:orphanet PMID:25782673 Assessed uuid:9783349d-d8a7-11f1-ae73-e4fade41113c NCBIGene:23729 biolink:causes Orphanet:440713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1492 infores:orphanet PMID:25647543 Assessed uuid:9783349e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2512 biolink:causes Orphanet:440731 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3999 infores:orphanet PMID:23940258 Assessed loss_of_function_variant_form uuid:9783349f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2512 biolink:causes Orphanet:440731 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3999 infores:orphanet PMID:23940258 Assessed gain_of_function_variant_form uuid:978334a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4141 biolink:causes Orphanet:440427 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6898 infores:orphanet PMID:24103465|PMID:25913036 Assessed loss_of_function_variant_form uuid:978334a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:657 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1076 infores:orphanet PMID:21640116 Assessed uuid:978334a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1101 infores:orphanet PMID:36370464 Assessed uuid:978334a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:11200 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16627 infores:orphanet PMID:17106448 Assessed uuid:978334a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:472 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:795 infores:orphanet PMID:36370464 Assessed uuid:978334a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4595 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7527 infores:orphanet PMID:24691292|PMID:23007840 Assessed uuid:978334a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:64218 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10729 infores:orphanet PMID:25307848 Assessed uuid:978334a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5426 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9177 infores:orphanet PMID:23263490|PMID:36370464 Assessed uuid:978334a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5424 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9175 infores:orphanet PMID:28306219 Assessed uuid:978334a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6224 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10405 infores:orphanet PMID:24941021 Assessed uuid:978334aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:4863 biolink:causes Orphanet:440437 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7896 infores:orphanet PMID:38778081 Assessed uuid:978334ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:22934 biolink:causes Orphanet:440706 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10297 infores:orphanet PMID:14988808|PMID:20499043 Assessed uuid:978334ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:1415 biolink:causes Orphanet:441447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2398 infores:orphanet PMID:21245961 Assessed uuid:978334ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:128866 biolink:causes Orphanet:441447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:16171 infores:orphanet PMID:17701905 Assessed gain_of_function_variant_form uuid:978334ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:1969 biolink:causes Orphanet:441447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3386 infores:orphanet PMID:24014202 Assessed uuid:978334af-d8a7-11f1-ae73-e4fade41113c NCBIGene:146862 biolink:causes Orphanet:441447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14304 infores:orphanet PMID:24549050 Assessed uuid:978334b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:221496 biolink:causes Orphanet:441447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21244 infores:orphanet PMID:26788539 Assessed uuid:978334b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8419 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1041 infores:orphanet PMID:10729115|PMID:18958306 Assessed uuid:978334b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1409 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2388 infores:orphanet PMID:23255486 Assessed uuid:978334b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1410 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2389 infores:orphanet PMID:16505043 Assessed uuid:978334b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1411 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2394 infores:orphanet PMID:15016766 Assessed uuid:978334b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1413 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2396 infores:orphanet PMID:16960806 Assessed uuid:978334b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1420 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2410 infores:orphanet PMID:12011157 Assessed uuid:978334b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1421 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2411 infores:orphanet PMID:12011157|PMID:21866214 Assessed uuid:978334b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3299 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5227 infores:orphanet PMID:12089525 Assessed uuid:978334b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4284 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7103 infores:orphanet PMID:23116563 Assessed uuid:978334ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:1427 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2417 infores:orphanet PMID:18587492|PMID:16141006 Assessed uuid:978334bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1419 biolink:causes Orphanet:441452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2409 infores:orphanet PMID:23288985 Assessed uuid:978334bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3077 biolink:contributes_to Orphanet:443057 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4886 infores:orphanet PMID:23741761 Assessed uuid:978334bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:7389 biolink:causes Orphanet:443062 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12591 infores:orphanet PMID:23741761 Assessed loss_of_function_variant_form uuid:978334be-d8a7-11f1-ae73-e4fade41113c NCBIGene:3077 biolink:contributes_to Orphanet:443062 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:4886 infores:orphanet PMID:23741761 Assessed uuid:978334bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:3508 biolink:causes Orphanet:443073 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5542 infores:orphanet PMID:25439726 Assessed loss_of_function_variant_form uuid:978334c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:161357 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19835 infores:orphanet PMID:41570816 Assessed uuid:978334c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6323 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10585 infores:orphanet PMID:24776920 Assessed uuid:978334c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:773 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1388 infores:orphanet PMID:27476654 Assessed uuid:978334c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:477 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:800 infores:orphanet PMID:33880529 Assessed uuid:978334c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:478 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:801 infores:orphanet PMID:33880529 Assessed uuid:978334c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2566 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4087 infores:orphanet PMID:27864268 Assessed uuid:978334c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2290 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3811 infores:orphanet PMID:31454984 Assessed uuid:978334c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:8831 biolink:gene_associated_with_condition Orphanet:442835 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11497 infores:orphanet PMID:23708187 Not yet assessed uuid:978334c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:16 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20 infores:orphanet PMID:25817015 Assessed loss_of_function_variant_form uuid:978334c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:79947 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20603 infores:orphanet PMID:29100083 Assessed uuid:978334ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:6334 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10596 infores:orphanet PMID:22365152|PMID:23708187 Assessed gain_of_function_variant_form uuid:978334cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:781 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1399 infores:orphanet PMID:35293990 Assessed uuid:978334cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1213 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2092 infores:orphanet PMID:29100083 Assessed uuid:978334cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:9681 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18423 infores:orphanet PMID:36067010 Assessed uuid:978334ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:4915 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8032 infores:orphanet PMID:29100083 Assessed uuid:978334cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:23334 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29040 infores:orphanet PMID:23932106 Assessed uuid:978334d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:8867 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11503 infores:orphanet PMID:27435091 Assessed uuid:978334d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:25977 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24539 infores:orphanet PMID:24399846 Assessed loss_of_function_variant_form uuid:978334d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:348980 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4845 infores:orphanet PMID:24747641|PMID:25678871 Assessed gain_of_function_variant_form uuid:978334d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:284111 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23089 infores:orphanet PMID:24995870 Assessed uuid:978334d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3745 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6231 infores:orphanet PMID:25164438 Assessed uuid:978334d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1759 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2972 infores:orphanet PMID:25262651|PMID:25533962 Assessed uuid:978334d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:55325 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25640 infores:orphanet PMID:33473208 Assessed loss_of_function_variant_form uuid:978334d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3737 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6220 infores:orphanet PMID:25751627 Assessed loss_of_function_variant_form uuid:978334d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3737 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6220 infores:orphanet PMID:25751627 Assessed gain_of_function_variant_form uuid:978334d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1917 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3192 infores:orphanet PMID:23647072 Assessed uuid:978334da-d8a7-11f1-ae73-e4fade41113c NCBIGene:22866 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19701 infores:orphanet PMID:25223753 Assessed uuid:978334db-d8a7-11f1-ae73-e4fade41113c NCBIGene:2257 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3668 infores:orphanet PMID:27164707 Assessed gain_of_function_variant_form uuid:978334dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:79876 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23230 infores:orphanet PMID:27545674|PMID:27545681 Assessed loss_of_function_variant_form uuid:978334dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2906 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4588 infores:orphanet PMID:27616483 Assessed gain_of_function_variant_form uuid:978334de-d8a7-11f1-ae73-e4fade41113c NCBIGene:774 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1389 infores:orphanet PMID:30982612 Assessed loss_of_function_variant_form uuid:978334df-d8a7-11f1-ae73-e4fade41113c NCBIGene:23219 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29046 infores:orphanet PMID:33280099 Assessed uuid:978334e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:9568 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4507 infores:orphanet PMID:25262651 Assessed uuid:978334e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2561 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4082 infores:orphanet PMID:29100083 Assessed uuid:978334e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:23241 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23794 infores:orphanet PMID:29656858 Assessed uuid:978334e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6328 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10590 infores:orphanet PMID:29466837 Assessed uuid:978334e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6506 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10940 infores:orphanet PMID:27476654|PMID:28777935 Assessed uuid:978334e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:8120 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:567 infores:orphanet PMID:27889060 Assessed uuid:978334e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:523 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:851 infores:orphanet PMID:29668857 Assessed uuid:978334e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:25973 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30563 infores:orphanet PMID:29915213 Assessed uuid:978334e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7532 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12852 infores:orphanet PMID:28777935 Assessed uuid:978334e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:116150 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21042 infores:orphanet PMID:29100083 Assessed uuid:978334ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:5530 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9314 infores:orphanet PMID:28942967 Assessed uuid:978334eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:23097 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19338 infores:orphanet PMID:32330417 Assessed uuid:978334ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:22906 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29947 infores:orphanet PMID:28364549 Assessed loss_of_function_variant_form uuid:978334ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:51343 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24824 infores:orphanet PMID:34788397 Assessed uuid:978334ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:2558 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4079 infores:orphanet PMID:31056671 Assessed uuid:978334ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:26999 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13760 infores:orphanet PMID:29534297 Assessed uuid:978334f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:51412 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:160 infores:orphanet PMID:31031012 Assessed uuid:978334f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2555 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4076 infores:orphanet PMID:31032849 Assessed uuid:978334f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:55152 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25536 infores:orphanet PMID:32427860 Assessed loss_of_function_variant_form uuid:978334f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:10659 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2550 infores:orphanet PMID:33131106 Assessed uuid:978334f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:10991 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18044 infores:orphanet PMID:34605855 Assessed uuid:978334f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3747 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6234 infores:orphanet PMID:35314505 Assessed loss_of_function_variant_form uuid:978334f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:27133 biolink:causes Orphanet:442835 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6254 infores:orphanet PMID:36307226 Assessed uuid:978334f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:212 biolink:causes Orphanet:443197 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:397 infores:orphanet PMID:23409301 Assessed gain_of_function_variant_form uuid:978334f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5428 biolink:causes Orphanet:298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9179 infores:orphanet PMID:12825077 Assessed uuid:978334f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1890 biolink:causes Orphanet:298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3148 infores:orphanet PMID:21933806 Assessed loss_of_function_variant_form uuid:978334fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:50484 biolink:causes Orphanet:298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17296 infores:orphanet PMID:19667227 Assessed uuid:978334fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3980 biolink:causes Orphanet:298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6600 infores:orphanet PMID:33855352 Assessed uuid:978334fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6530 biolink:causes Orphanet:443236 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11048 infores:orphanet PMID:10684912 Assessed loss_of_function_variant_form uuid:978334fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6833 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:59 infores:orphanet PMID:21989597 Assessed uuid:978334fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:1056 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1848 infores:orphanet PMID:21844708 Assessed uuid:978334ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:2645 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4195 infores:orphanet PMID:21844708|PMID:22498247 Assessed uuid:97833500-d8a7-11f1-ae73-e4fade41113c NCBIGene:3172 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5024 infores:orphanet PMID:21844708|PMID:22498247 Assessed uuid:97833501-d8a7-11f1-ae73-e4fade41113c NCBIGene:3767 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6257 infores:orphanet PMID:22701567 Assessed uuid:97833502-d8a7-11f1-ae73-e4fade41113c NCBIGene:8462 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11811 infores:orphanet PMID:21844708 Assessed uuid:97833503-d8a7-11f1-ae73-e4fade41113c NCBIGene:4760 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7762 infores:orphanet PMID:21844708|PMID:22498247 Assessed uuid:97833504-d8a7-11f1-ae73-e4fade41113c NCBIGene:3651 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6107 infores:orphanet PMID:21844708|PMID:22498247 Assessed uuid:97833505-d8a7-11f1-ae73-e4fade41113c NCBIGene:6927 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11621 infores:orphanet PMID:21844708|PMID:22498247 Assessed uuid:97833506-d8a7-11f1-ae73-e4fade41113c NCBIGene:3630 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6081 infores:orphanet PMID:22498247 Assessed uuid:97833507-d8a7-11f1-ae73-e4fade41113c NCBIGene:5078 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8618 infores:orphanet PMID:17426099|PMID:21263211|PMID:22521316|PMID:25041077 Assessed uuid:97833508-d8a7-11f1-ae73-e4fade41113c NCBIGene:640 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1057 infores:orphanet PMID:19667185 Assessed uuid:97833509-d8a7-11f1-ae73-e4fade41113c NCBIGene:26060 biolink:causes Orphanet:552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24035 infores:orphanet PMID:26073777 Assessed loss_of_function_variant_form uuid:9783350a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1646 biolink:causes Orphanet:443087 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:385 infores:orphanet PMID:21802064 Assessed loss_of_function_variant_form uuid:9783350b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1109 biolink:contributes_to Orphanet:443087 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:387 infores:orphanet PMID:21802064 Assessed uuid:9783350c-d8a7-11f1-ae73-e4fade41113c NCBIGene:256646 biolink:gene_associated_with_condition Orphanet:443167 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:29919 infores:orphanet PMID:22017582 Assessed uuid:9783350d-d8a7-11f1-ae73-e4fade41113c NCBIGene:23476 biolink:gene_associated_with_condition Orphanet:443167 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:13575 infores:orphanet PMID:22017582 Assessed uuid:9783350e-d8a7-11f1-ae73-e4fade41113c NCBIGene:781 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1399 infores:orphanet PMID:20301690|PMID:20817017|PMID:17224476 Not yet assessed uuid:9783350f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7871 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16643 infores:orphanet PMID:20301690|PMID:23064965 Not yet assessed uuid:97833510-d8a7-11f1-ae73-e4fade41113c NCBIGene:10060 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:60 infores:orphanet PMID:24439875 Not yet assessed uuid:97833511-d8a7-11f1-ae73-e4fade41113c NCBIGene:5318 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9024 infores:orphanet PMID:27085656 Not yet assessed uuid:97833512-d8a7-11f1-ae73-e4fade41113c NCBIGene:6324 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10586 infores:orphanet PMID:20301690 Not yet assessed uuid:97833513-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:130 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10593 infores:orphanet PMID:20301690 Assessed uuid:97833514-d8a7-11f1-ae73-e4fade41113c NCBIGene:6337 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10599 infores:orphanet PMID:30821013 Not yet assessed uuid:97833515-d8a7-11f1-ae73-e4fade41113c NCBIGene:783 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1402 infores:orphanet PMID:20301690 Not yet assessed uuid:97833516-d8a7-11f1-ae73-e4fade41113c NCBIGene:10021 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16882 infores:orphanet PMID:20301690 Not yet assessed uuid:97833517-d8a7-11f1-ae73-e4fade41113c NCBIGene:23630 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6241 infores:orphanet PMID:21493962 Not yet assessed uuid:97833518-d8a7-11f1-ae73-e4fade41113c NCBIGene:10008 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6243 infores:orphanet PMID:20301690 Not yet assessed uuid:97833519-d8a7-11f1-ae73-e4fade41113c NCBIGene:10142 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:379 infores:orphanet PMID:27707468|PMID:25016126 Not yet assessed uuid:9783351a-d8a7-11f1-ae73-e4fade41113c NCBIGene:54795 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:17993 infores:orphanet PMID:23382873|PMID:20301690 Not yet assessed uuid:9783351b-d8a7-11f1-ae73-e4fade41113c NCBIGene:23171 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:28956 infores:orphanet PMID:20301690 Not yet assessed uuid:9783351c-d8a7-11f1-ae73-e4fade41113c NCBIGene:55800 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:20665 infores:orphanet PMID:20301690 Not yet assessed uuid:9783351d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6327 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10589 infores:orphanet PMID:23559163|PMID:30821013 Not yet assessed uuid:9783351e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3764 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6269 infores:orphanet PMID:22056721|PMID:20301690 Not yet assessed uuid:9783351f-d8a7-11f1-ae73-e4fade41113c NCBIGene:775 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1390 infores:orphanet PMID:20301690 Not yet assessed uuid:97833520-d8a7-11f1-ae73-e4fade41113c NCBIGene:3752 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6239 infores:orphanet PMID:21349352|PMID:20301690 Not yet assessed uuid:97833521-d8a7-11f1-ae73-e4fade41113c NCBIGene:6336 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10582 infores:orphanet PMID:24998131|PMID:25691538 Not yet assessed uuid:97833522-d8a7-11f1-ae73-e4fade41113c NCBIGene:10371 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10723 infores:orphanet PMID:30821013 Not yet assessed uuid:97833523-d8a7-11f1-ae73-e4fade41113c NCBIGene:29098 biolink:gene_associated_with_condition Orphanet:130 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:17679 infores:orphanet PMID:24142675 Not yet assessed uuid:97833524-d8a7-11f1-ae73-e4fade41113c NCBIGene:100 biolink:causes Orphanet:277 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:186 infores:orphanet Assessed uuid:97833525-d8a7-11f1-ae73-e4fade41113c NCBIGene:54820 biolink:causes Orphanet:443162 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17619 infores:orphanet PMID:22526350 Assessed uuid:97833526-d8a7-11f1-ae73-e4fade41113c NCBIGene:5238 biolink:causes Orphanet:443811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8907 infores:orphanet PMID:24589341|PMID:24931394 Assessed uuid:97833527-d8a7-11f1-ae73-e4fade41113c NCBIGene:3300 biolink:causes Orphanet:443950 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5228 infores:orphanet PMID:25274842 Assessed uuid:97833528-d8a7-11f1-ae73-e4fade41113c NCBIGene:286204 biolink:causes Orphanet:443988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18688 infores:orphanet PMID:25557780 Assessed uuid:97833529-d8a7-11f1-ae73-e4fade41113c NCBIGene:1314 biolink:causes Orphanet:444092 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2230 infores:orphanet PMID:25894502 Assessed uuid:9783352a-d8a7-11f1-ae73-e4fade41113c NCBIGene:126129 biolink:causes Orphanet:444099 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18540 infores:orphanet PMID:25751282 Assessed uuid:9783352b-d8a7-11f1-ae73-e4fade41113c NCBIGene:831 biolink:causes Orphanet:444138 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1515 infores:orphanet PMID:25683118 Assessed loss_of_function_variant_form uuid:9783352c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1909 biolink:causes Orphanet:443995 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3179 infores:orphanet PMID:25772936 Assessed gain_of_function_variant_form uuid:9783352d-d8a7-11f1-ae73-e4fade41113c NCBIGene:254394 biolink:causes Orphanet:444048 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21484 infores:orphanet PMID:25480036 Assessed loss_of_function_variant_form uuid:9783352e-d8a7-11f1-ae73-e4fade41113c NCBIGene:84705 biolink:causes Orphanet:444013 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14880 infores:orphanet PMID:25434004 Assessed uuid:9783352f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1063 biolink:causes Orphanet:444069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1857 infores:orphanet PMID:25564561 Assessed loss_of_function_variant_form uuid:97833530-d8a7-11f1-ae73-e4fade41113c NCBIGene:27125 biolink:causes Orphanet:444077 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:17869 infores:orphanet PMID:25730767 Assessed gain_of_function_variant_form uuid:97833531-d8a7-11f1-ae73-e4fade41113c NCBIGene:2972 biolink:causes Orphanet:444072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11551 infores:orphanet PMID:25561519 Assessed loss_of_function_variant_form uuid:97833532-d8a7-11f1-ae73-e4fade41113c NCBIGene:7174 biolink:causes Orphanet:444463 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12016 infores:orphanet PMID:25414442 Assessed loss_of_function_variant_form uuid:97833533-d8a7-11f1-ae73-e4fade41113c NCBIGene:79731 biolink:causes Orphanet:444458 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26274 infores:orphanet PMID:25385316 Assessed uuid:97833534-d8a7-11f1-ae73-e4fade41113c NCBIGene:84197 biolink:causes Orphanet:445110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26267 infores:orphanet PMID:24925318 Assessed loss_of_function_variant_form uuid:97833535-d8a7-11f1-ae73-e4fade41113c NCBIGene:5611 biolink:causes Orphanet:445062 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9439 infores:orphanet PMID:25466870 Assessed loss_of_function_variant_form uuid:97833536-d8a7-11f1-ae73-e4fade41113c NCBIGene:81570 biolink:causes Orphanet:445038 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30664 infores:orphanet PMID:25597511|PMID:25597510 Assessed loss_of_function_variant_form uuid:97833537-d8a7-11f1-ae73-e4fade41113c NCBIGene:987 biolink:causes Orphanet:445018 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1742 infores:orphanet PMID:22608502|PMID:25468195 Assessed loss_of_function_variant_form uuid:97833538-d8a7-11f1-ae73-e4fade41113c NCBIGene:9020 biolink:causes Orphanet:447731 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6853 infores:orphanet PMID:25406581 Assessed loss_of_function_variant_form uuid:97833539-d8a7-11f1-ae73-e4fade41113c NCBIGene:1794 biolink:causes Orphanet:447737 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2988 infores:orphanet PMID:26083206 Assessed loss_of_function_variant_form uuid:9783353a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2357 biolink:causes Orphanet:447740 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3826 infores:orphanet PMID:19722801 Assessed uuid:9783353b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5426 biolink:causes Orphanet:447877 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9177 infores:orphanet PMID:23263490 Assessed uuid:9783353c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5424 biolink:causes Orphanet:447877 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9175 infores:orphanet PMID:23263490 Assessed uuid:9783353d-d8a7-11f1-ae73-e4fade41113c NCBIGene:11128 biolink:causes Orphanet:447896 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30074 infores:orphanet PMID:20640464 Assessed uuid:9783353e-d8a7-11f1-ae73-e4fade41113c NCBIGene:11128 biolink:causes Orphanet:447893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30074 infores:orphanet PMID:22036171 Assessed uuid:9783353f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51660 biolink:causes Orphanet:447784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21606 infores:orphanet PMID:22628558 Assessed uuid:97833540-d8a7-11f1-ae73-e4fade41113c NCBIGene:5832 biolink:causes Orphanet:447757 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9722 infores:orphanet PMID:26026163 Assessed loss_of_function_variant_form uuid:97833541-d8a7-11f1-ae73-e4fade41113c NCBIGene:5832 biolink:causes Orphanet:447753 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9722 infores:orphanet PMID:26026163|PMID:26297558 Assessed loss_of_function_variant_form uuid:97833542-d8a7-11f1-ae73-e4fade41113c NCBIGene:5832 biolink:causes Orphanet:447760 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9722 infores:orphanet PMID:26026163 Assessed loss_of_function_variant_form uuid:97833543-d8a7-11f1-ae73-e4fade41113c NCBIGene:5575 biolink:causes Orphanet:412066 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9390 infores:orphanet PMID:24722252|PMID:25108559 Assessed uuid:97833544-d8a7-11f1-ae73-e4fade41113c NCBIGene:10273 biolink:causes Orphanet:412057 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11427 infores:orphanet PMID:24312598|PMID:24742043|PMID:25258038|PMID:24113144 Assessed loss_of_function_variant_form uuid:97833545-d8a7-11f1-ae73-e4fade41113c NCBIGene:667 biolink:causes Orphanet:412181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1090 infores:orphanet PMID:22113475 Assessed uuid:97833546-d8a7-11f1-ae73-e4fade41113c NCBIGene:27245 biolink:causes Orphanet:412069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25230 infores:orphanet PMID:24791903 Assessed uuid:97833547-d8a7-11f1-ae73-e4fade41113c NCBIGene:23086 biolink:causes Orphanet:412189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30578 infores:orphanet PMID:23176819 Assessed uuid:97833548-d8a7-11f1-ae73-e4fade41113c NCBIGene:5745 biolink:causes Orphanet:412206 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9608 infores:orphanet PMID:19061984|PMID:23910200|PMID:20830195 Assessed loss_of_function_variant_form uuid:97833549-d8a7-11f1-ae73-e4fade41113c NCBIGene:4784 biolink:causes Orphanet:420179 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7788 infores:orphanet PMID:20673863|PMID:22301465|PMID:25118028 Assessed uuid:9783354a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1441 biolink:causes Orphanet:420702 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2439 infores:orphanet PMID:24753537 Assessed loss_of_function_variant_form uuid:9783354b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57176 biolink:causes Orphanet:420728 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21642 infores:orphanet PMID:24827421|PMID:25058219 Assessed uuid:9783354c-d8a7-11f1-ae73-e4fade41113c NCBIGene:80222 biolink:causes Orphanet:420733 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30740 infores:orphanet PMID:24827421 Assessed uuid:9783354d-d8a7-11f1-ae73-e4fade41113c NCBIGene:165918 biolink:causes Orphanet:420741 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26661 infores:orphanet PMID:21394101|PMID:19203578 Assessed uuid:9783354e-d8a7-11f1-ae73-e4fade41113c NCBIGene:25792 biolink:gene_associated_with_condition Orphanet:420492 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16744 infores:orphanet PMID:22447717 Not yet assessed uuid:9783354f-d8a7-11f1-ae73-e4fade41113c NCBIGene:63982 biolink:causes Orphanet:420485 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14004 infores:orphanet PMID:23200863 Assessed uuid:97833550-d8a7-11f1-ae73-e4fade41113c NCBIGene:2548 biolink:causes Orphanet:420429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4065 infores:orphanet Assessed uuid:97833551-d8a7-11f1-ae73-e4fade41113c NCBIGene:2623 biolink:causes Orphanet:420611 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4170 infores:orphanet PMID:14636651 Assessed uuid:97833552-d8a7-11f1-ae73-e4fade41113c NCBIGene:2736 biolink:causes Orphanet:420584 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4318 infores:orphanet PMID:24744436 Assessed loss_of_function_variant_form uuid:97833553-d8a7-11f1-ae73-e4fade41113c NCBIGene:3579 biolink:causes Orphanet:420699 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6027 infores:orphanet PMID:24777453 Assessed uuid:97833554-d8a7-11f1-ae73-e4fade41113c NCBIGene:25959 biolink:causes Orphanet:420686 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29300 infores:orphanet PMID:24671081 Assessed uuid:97833555-d8a7-11f1-ae73-e4fade41113c NCBIGene:3756 biolink:causes Orphanet:420561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6250 infores:orphanet PMID:25420144 Assessed gain_of_function_variant_form uuid:97833556-d8a7-11f1-ae73-e4fade41113c NCBIGene:1503 biolink:causes Orphanet:420573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2519 infores:orphanet PMID:24870241 Assessed loss_of_function_variant_form uuid:97833557-d8a7-11f1-ae73-e4fade41113c NCBIGene:10235 biolink:causes Orphanet:420566 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9879 infores:orphanet PMID:24958846 Assessed uuid:97833558-d8a7-11f1-ae73-e4fade41113c NCBIGene:79158 biolink:causes Orphanet:423461 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29670 infores:orphanet PMID:18425436 Assessed loss_of_function_variant_form uuid:97833559-d8a7-11f1-ae73-e4fade41113c NCBIGene:84572 biolink:causes Orphanet:423470 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23026 infores:orphanet PMID:20034096|PMID:19708128 Assessed loss_of_function_variant_form uuid:9783355a-d8a7-11f1-ae73-e4fade41113c NCBIGene:79977 biolink:causes Orphanet:423454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2799 infores:orphanet PMID:25152456 Assessed uuid:9783355b-d8a7-11f1-ae73-e4fade41113c NCBIGene:84522 biolink:causes Orphanet:423384 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26926 infores:orphanet PMID:25129144 Assessed uuid:9783355c-d8a7-11f1-ae73-e4fade41113c NCBIGene:60481 biolink:causes Orphanet:423296 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21308 infores:orphanet PMID:25065913 Assessed uuid:9783355d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5859 biolink:causes Orphanet:423306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9751 infores:orphanet PMID:28620870 Assessed uuid:9783355e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5631 biolink:causes Orphanet:423479 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9462 infores:orphanet PMID:24961627 Assessed loss_of_function_variant_form uuid:9783355f-d8a7-11f1-ae73-e4fade41113c NCBIGene:11236 biolink:gene_associated_with_condition Orphanet:422526 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:17023 infores:orphanet Assessed uuid:97833560-d8a7-11f1-ae73-e4fade41113c NCBIGene:2272 biolink:gene_associated_with_condition Orphanet:422526 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3701 infores:orphanet Assessed uuid:97833561-d8a7-11f1-ae73-e4fade41113c NCBIGene:201163 biolink:gene_associated_with_condition Orphanet:422526 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:27310 infores:orphanet PMID:12471204 Not yet assessed uuid:97833562-d8a7-11f1-ae73-e4fade41113c NCBIGene:79663 biolink:gene_associated_with_condition Orphanet:422526 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:16389 infores:orphanet PMID:12939738 Assessed uuid:97833563-d8a7-11f1-ae73-e4fade41113c NCBIGene:729582 biolink:gene_associated_with_condition Orphanet:422526 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:17805 infores:orphanet PMID:12939738 Assessed uuid:97833564-d8a7-11f1-ae73-e4fade41113c NCBIGene:4968 biolink:gene_associated_with_condition Orphanet:422526 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:8125 infores:orphanet PMID:10987279 Not yet assessed uuid:97833565-d8a7-11f1-ae73-e4fade41113c NCBIGene:84925 biolink:gene_associated_with_condition Orphanet:422526 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:16628 infores:orphanet PMID:11912179|PMID:11996788 Not yet assessed uuid:97833566-d8a7-11f1-ae73-e4fade41113c NCBIGene:440193 biolink:causes Orphanet:423275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:19967 infores:orphanet PMID:25062847 Assessed gain_of_function_variant_form uuid:97833567-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:424107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:24951453 Assessed uuid:97833568-d8a7-11f1-ae73-e4fade41113c NCBIGene:10586 biolink:causes Orphanet:424099 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6758 infores:orphanet PMID:24906020 Assessed uuid:97833569-d8a7-11f1-ae73-e4fade41113c NCBIGene:26092 biolink:causes Orphanet:424261 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29456 infores:orphanet PMID:24856141 Assessed loss_of_function_variant_form uuid:9783356a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10715 biolink:causes Orphanet:424027 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14253 infores:orphanet PMID:24782409 Assessed uuid:9783356b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7443 biolink:causes Orphanet:423894 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12718 infores:orphanet PMID:24126608 Assessed uuid:9783356c-d8a7-11f1-ae73-e4fade41113c NCBIGene:340061 biolink:causes Orphanet:425120 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:27962 infores:orphanet PMID:25029335 Assessed gain_of_function_variant_form uuid:9783356d-d8a7-11f1-ae73-e4fade41113c NCBIGene:133686 biolink:causes Orphanet:431361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26404 infores:orphanet PMID:24847004 Assessed loss_of_function_variant_form uuid:9783356e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2273 biolink:causes Orphanet:431272 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3702 infores:orphanet PMID:18179901 Assessed uuid:9783356f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10342 biolink:causes Orphanet:431329 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11758 infores:orphanet PMID:23479643 Assessed uuid:97833570-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:431255 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18083 infores:orphanet PMID:20037587 Assessed uuid:97833571-d8a7-11f1-ae73-e4fade41113c NCBIGene:7293 biolink:causes Orphanet:431149 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11918 infores:orphanet PMID:23897980 Assessed loss_of_function_variant_form uuid:97833572-d8a7-11f1-ae73-e4fade41113c NCBIGene:6773 biolink:causes Orphanet:431166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11363 infores:orphanet PMID:23391734 Assessed loss_of_function_variant_form uuid:97833573-d8a7-11f1-ae73-e4fade41113c NCBIGene:3455 biolink:contributes_to Orphanet:431166 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5433 infores:orphanet PMID:26424569 Assessed uuid:97833574-d8a7-11f1-ae73-e4fade41113c NCBIGene:3746 biolink:causes Orphanet:435438 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6233 infores:orphanet PMID:25401298 Assessed loss_of_function_variant_form uuid:97833575-d8a7-11f1-ae73-e4fade41113c NCBIGene:7415 biolink:causes Orphanet:435387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12666 infores:orphanet PMID:25125609 Assessed uuid:97833576-d8a7-11f1-ae73-e4fade41113c NCBIGene:26005 biolink:causes Orphanet:434179 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24564 infores:orphanet PMID:24997988 Assessed uuid:97833577-d8a7-11f1-ae73-e4fade41113c NCBIGene:5981 biolink:causes Orphanet:504476 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9969 infores:orphanet PMID:30926972 Assessed uuid:97833578-d8a7-11f1-ae73-e4fade41113c NCBIGene:27040 biolink:causes Orphanet:504523 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18874 infores:orphanet PMID:27522155 Assessed uuid:97833579-d8a7-11f1-ae73-e4fade41113c NCBIGene:4478 biolink:causes Orphanet:504530 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7373 infores:orphanet PMID:27405666 Assessed uuid:9783357a-d8a7-11f1-ae73-e4fade41113c NCBIGene:37 biolink:causes Orphanet:26793 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:92 infores:orphanet PMID:20301763 Assessed uuid:9783357b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:gene_associated_with_condition Orphanet:29072 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9967 infores:orphanet PMID:23551045|PMID:24375508 Not yet assessed uuid:9783357c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6389 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10680 infores:orphanet PMID:20301715 Assessed uuid:9783357d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6390 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10681 infores:orphanet PMID:20301715 Assessed uuid:9783357e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6391 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10682 infores:orphanet PMID:20301715 Assessed uuid:9783357f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6392 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10683 infores:orphanet PMID:20301715 Assessed uuid:97833580-d8a7-11f1-ae73-e4fade41113c NCBIGene:7428 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12687 infores:orphanet PMID:9215674|PMID:19574279 Assessed uuid:97833581-d8a7-11f1-ae73-e4fade41113c NCBIGene:2271 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3700 infores:orphanet PMID:24334767|PMID:25004247 Assessed loss_of_function_variant_form uuid:97833582-d8a7-11f1-ae73-e4fade41113c NCBIGene:23095 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16636 infores:orphanet PMID:18334619 Assessed loss_of_function_variant_form uuid:97833583-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7765 infores:orphanet PMID:30536464 Assessed uuid:97833584-d8a7-11f1-ae73-e4fade41113c NCBIGene:54949 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26034 infores:orphanet PMID:20301715 Assessed uuid:97833585-d8a7-11f1-ae73-e4fade41113c NCBIGene:55654 biolink:gene_associated_with_condition Orphanet:29072 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:26038 infores:orphanet PMID:21156949 Not yet assessed uuid:97833586-d8a7-11f1-ae73-e4fade41113c NCBIGene:4149 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6913 infores:orphanet PMID:20301715 Assessed uuid:97833587-d8a7-11f1-ae73-e4fade41113c NCBIGene:4191 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6971 infores:orphanet PMID:25766404 Assessed uuid:97833588-d8a7-11f1-ae73-e4fade41113c NCBIGene:1743 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2911 infores:orphanet PMID:31051110 Assessed uuid:97833589-d8a7-11f1-ae73-e4fade41113c NCBIGene:8402 biolink:causes Orphanet:29072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10981 infores:orphanet PMID:29431636 Assessed uuid:9783358a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6898 biolink:causes Orphanet:28378 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11573 infores:orphanet PMID:1357662 Assessed loss_of_function_variant_form uuid:9783358b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3106 biolink:contributes_to Orphanet:29207 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4932 infores:orphanet PMID:33014690 Assessed uuid:9783358c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3106 biolink:gene_associated_with_condition Orphanet:29207 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:4932 infores:orphanet Not yet assessed uuid:9783358d-d8a7-11f1-ae73-e4fade41113c NCBIGene:595 biolink:contributes_to Orphanet:29073 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1582 infores:orphanet PMID:23502783 Assessed uuid:9783358e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3291 biolink:causes Orphanet:320 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5209 infores:orphanet PMID:10523339 Assessed loss_of_function_variant_form uuid:9783358f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1621 biolink:causes Orphanet:230 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2689 infores:orphanet PMID:20301647 Assessed uuid:97833590-d8a7-11f1-ae73-e4fade41113c NCBIGene:2903 biolink:causes Orphanet:725 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4585 infores:orphanet PMID:27683935 Assessed uuid:97833591-d8a7-11f1-ae73-e4fade41113c NCBIGene:1181 biolink:causes Orphanet:404 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2020 infores:orphanet PMID:29403011 Assessed uuid:97833592-d8a7-11f1-ae73-e4fade41113c NCBIGene:5309 biolink:causes Orphanet:162 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9006 infores:orphanet PMID:9620774 Assessed uuid:97833593-d8a7-11f1-ae73-e4fade41113c NCBIGene:596 biolink:gene_associated_with_condition Orphanet:545 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:990 infores:orphanet PMID:23953419|PMID:22684552 Assessed uuid:97833594-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:contributes_to Orphanet:545 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:23791106 Assessed uuid:97833595-d8a7-11f1-ae73-e4fade41113c NCBIGene:604 biolink:gene_associated_with_condition Orphanet:545 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1001 infores:orphanet PMID:22968395 Assessed uuid:97833596-d8a7-11f1-ae73-e4fade41113c NCBIGene:3492 biolink:gene_associated_with_condition Orphanet:545 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:5477 infores:orphanet PMID:23953419 Assessed uuid:97833597-d8a7-11f1-ae73-e4fade41113c NCBIGene:5551 biolink:contributes_to Orphanet:88 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9360 infores:orphanet PMID:17311987 Assessed uuid:97833598-d8a7-11f1-ae73-e4fade41113c NCBIGene:51119 biolink:contributes_to Orphanet:88 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:19440 infores:orphanet PMID:17478638 Assessed uuid:97833599-d8a7-11f1-ae73-e4fade41113c NCBIGene:3458 biolink:contributes_to Orphanet:88 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:5438 infores:orphanet PMID:15327519 Assessed uuid:9783359a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7015 biolink:contributes_to Orphanet:88 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11730 infores:orphanet PMID:16627250|PMID:16990594 Assessed uuid:9783359b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7012 biolink:contributes_to Orphanet:88 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11727 infores:orphanet PMID:12090986 Assessed uuid:9783359c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3717 biolink:causes Orphanet:824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6192 infores:orphanet Assessed uuid:9783359d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4352 biolink:causes Orphanet:824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7217 infores:orphanet PMID:16834459|PMID:16868251 Assessed uuid:9783359e-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:causes Orphanet:824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:25941 infores:orphanet PMID:19557078|PMID:19262601 Assessed uuid:9783359f-d8a7-11f1-ae73-e4fade41113c NCBIGene:811 biolink:causes Orphanet:824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1455 infores:orphanet PMID:24325256|PMID:24325359 Assessed uuid:978335a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3717 biolink:causes Orphanet:729 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6192 infores:orphanet Assessed uuid:978335a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:203547 biolink:causes Orphanet:25980 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22082 infores:orphanet PMID:23315026 Assessed uuid:978335a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:999 biolink:causes Orphanet:26106 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1748 infores:orphanet PMID:19168852|PMID:20301318 Assessed uuid:978335a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:9064 biolink:causes Orphanet:26106 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6858 infores:orphanet PMID:25340522 Assessed loss_of_function_variant_form uuid:978335a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1495 biolink:gene_associated_with_condition Orphanet:26106 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2509 infores:orphanet PMID:26049741|PMID:26182300|PMID:23208944 Not yet assessed uuid:978335a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:35 biolink:causes Orphanet:26792 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:90 infores:orphanet PMID:21938826 Assessed uuid:978335a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6445 biolink:causes Orphanet:353 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10809 infores:orphanet PMID:20301582 Assessed uuid:978335a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6444 biolink:causes Orphanet:219 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10807 infores:orphanet PMID:20301582 Assessed uuid:978335a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6443 biolink:causes Orphanet:119 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10806 infores:orphanet PMID:20301582 Assessed uuid:978335a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:8878 biolink:contributes_to Orphanet:603 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11280 infores:orphanet PMID:29457785 Assessed uuid:978335aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:7072 biolink:contributes_to Orphanet:603 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11802 infores:orphanet PMID:29457785 Assessed uuid:978335ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:7072 biolink:causes Orphanet:603 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11802 infores:orphanet PMID:23348830|PMID:23401021 Assessed gain_of_function_variant_form uuid:978335ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:9837 biolink:causes Orphanet:505227 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28980 infores:orphanet PMID:28414293 Assessed loss_of_function_variant_form uuid:978335ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:55624 biolink:causes Orphanet:588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19139 infores:orphanet PMID:12788071 Assessed loss_of_function_variant_form uuid:978335ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:10585 biolink:causes Orphanet:588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9202 infores:orphanet PMID:19299310|PMID:17878207 Assessed uuid:978335af-d8a7-11f1-ae73-e4fade41113c NCBIGene:29954 biolink:causes Orphanet:588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19743 infores:orphanet PMID:19299310|PMID:17878207 Assessed uuid:978335b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2218 biolink:causes Orphanet:588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3622 infores:orphanet PMID:17878207 Assessed uuid:978335b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:79147 biolink:causes Orphanet:588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17997 infores:orphanet PMID:15121789|PMID:19299310 Assessed uuid:978335b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9215 biolink:gene_associated_with_condition Orphanet:588 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6511 infores:orphanet PMID:19067344 Not yet assessed uuid:978335b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:729920 biolink:causes Orphanet:588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:37276 infores:orphanet PMID:35863218|PMID:33816389 Assessed uuid:978335b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:148789 biolink:causes Orphanet:588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28596 infores:orphanet PMID:23453667 Assessed loss_of_function_variant_form uuid:978335b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:29925 biolink:causes Orphanet:588 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22932 infores:orphanet PMID:23768512 Assessed uuid:978335b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:51633 biolink:causes Orphanet:505237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24281 infores:orphanet PMID:28343629 Assessed loss_of_function_variant_form uuid:978335b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:55624 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19139 infores:orphanet PMID:19299310 Assessed uuid:978335b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:10585 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9202 infores:orphanet PMID:19880378 Assessed loss_of_function_variant_form uuid:978335b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:29954 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19743 infores:orphanet PMID:19880378 Assessed loss_of_function_variant_form uuid:978335ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:1282 biolink:gene_associated_with_condition Orphanet:899 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2202 infores:orphanet PMID:21625620 Not yet assessed uuid:978335bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:2218 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3622 infores:orphanet PMID:18177472|PMID:17878207 Assessed loss_of_function_variant_form uuid:978335bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:79147 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17997 infores:orphanet PMID:20236121 Assessed loss_of_function_variant_form uuid:978335bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:9215 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6511 infores:orphanet PMID:21727005|PMID:19299310 Assessed uuid:978335be-d8a7-11f1-ae73-e4fade41113c NCBIGene:1605 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2666 infores:orphanet PMID:25934851 Assessed loss_of_function_variant_form uuid:978335bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:729920 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:37276 infores:orphanet PMID:22522420 Assessed loss_of_function_variant_form uuid:978335c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:84892 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25902 infores:orphanet PMID:22958903 Assessed loss_of_function_variant_form uuid:978335c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:10329 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13530 infores:orphanet PMID:23217329|PMID:23519211 Assessed loss_of_function_variant_form uuid:978335c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:148789 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28596 infores:orphanet PMID:23453667 Assessed loss_of_function_variant_form uuid:978335c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:11041 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15685 infores:orphanet PMID:23359570 Assessed loss_of_function_variant_form uuid:978335c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:84197 biolink:causes Orphanet:899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26267 infores:orphanet PMID:23519211 Assessed loss_of_function_variant_form uuid:978335c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:92609 biolink:causes Orphanet:505216 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23656 infores:orphanet PMID:27573165 Assessed uuid:978335c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2218 biolink:causes Orphanet:272 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3622 infores:orphanet PMID:20301385 Assessed uuid:978335c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:27429 biolink:causes Orphanet:505208 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14348 infores:orphanet PMID:27208207|PMID:27696117 Assessed uuid:978335c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8291 biolink:causes Orphanet:268 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3097 infores:orphanet PMID:20301582 Assessed uuid:978335c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:9782 biolink:causes Orphanet:600 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6912 infores:orphanet PMID:19344878 Assessed uuid:978335ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:65082 biolink:causes Orphanet:505248 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18179 infores:orphanet PMID:28013294 Assessed uuid:978335cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12403 infores:orphanet PMID:20301498 Assessed uuid:978335cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:10020 biolink:causes Orphanet:602 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23657 infores:orphanet PMID:11916006|PMID:20301439 Assessed uuid:978335cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:10463 biolink:causes Orphanet:505242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1329 infores:orphanet PMID:28334855 Assessed loss_of_function_variant_form uuid:978335ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:51102 biolink:causes Orphanet:508093 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19691 infores:orphanet PMID:27817865 Assessed uuid:978335cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2137 biolink:causes Orphanet:508533 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3518 infores:orphanet PMID:28132690|PMID:28148688 Assessed uuid:978335d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:114803 biolink:causes Orphanet:508542 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29401 infores:orphanet PMID:28115216 Assessed uuid:978335d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:116028 biolink:causes Orphanet:508512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28349 infores:orphanet PMID:27977684 Assessed uuid:978335d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7156 biolink:causes Orphanet:508512 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11992 infores:orphanet PMID:30057030 Assessed uuid:978335d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:54800 biolink:causes Orphanet:508529 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25947 infores:orphanet PMID:27889062|PMID:27798626|PMID:28532758|PMID:29574966 Assessed uuid:978335d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:56521 biolink:causes Orphanet:508523 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28908 infores:orphanet PMID:28132689 Assessed uuid:978335d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:22827 biolink:gene_associated_with_condition Orphanet:508488 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:17042 infores:orphanet PMID:27804958 Assessed uuid:978335d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:8692 biolink:gene_associated_with_condition Orphanet:508476 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5321 infores:orphanet PMID:28081210 Not yet assessed uuid:978335d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:55081 biolink:causes Orphanet:508501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17367 infores:orphanet PMID:27060890 Assessed uuid:978335d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:22827 biolink:causes Orphanet:508498 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17042 infores:orphanet PMID:27804958|PMID:28327570 Assessed loss_of_function_variant_form uuid:978335d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6792 biolink:causes Orphanet:505652 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11411 infores:orphanet PMID:22872100 Assessed uuid:978335da-d8a7-11f1-ae73-e4fade41113c NCBIGene:8879 biolink:causes Orphanet:506334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10817 infores:orphanet PMID:28181337|PMID:24777844|PMID:28218265 Assessed uuid:978335db-d8a7-11f1-ae73-e4fade41113c NCBIGene:1063 biolink:causes Orphanet:506307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1857 infores:orphanet PMID:25564561|PMID:26820108 Assessed uuid:978335dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:7528 biolink:causes Orphanet:506358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12856 infores:orphanet PMID:28575647 Assessed loss_of_function_variant_form uuid:978335dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:85465 biolink:causes Orphanet:506353 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29361 infores:orphanet PMID:28052917 Assessed loss_of_function_variant_form uuid:978335de-d8a7-11f1-ae73-e4fade41113c NCBIGene:4311 biolink:causes Orphanet:495274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7154 infores:orphanet PMID:26991897 Assessed loss_of_function_variant_form uuid:978335df-d8a7-11f1-ae73-e4fade41113c NCBIGene:51501 biolink:causes Orphanet:495844 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26938 infores:orphanet PMID:26545878|PMID:28000699 Assessed uuid:978335e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4010 biolink:gene_associated_with_condition Orphanet:495818 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6654 infores:orphanet PMID:26395556 Assessed uuid:978335e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6812 biolink:gene_associated_with_condition Orphanet:495818 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11444 infores:orphanet PMID:26395556 Assessed uuid:978335e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4081 biolink:causes Orphanet:495875 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6757 infores:orphanet PMID:30487245 Assessed uuid:978335e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6904 biolink:causes Orphanet:496641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11581 infores:orphanet PMID:27807845|PMID:27666374|PMID:27666370 Assessed loss_of_function_variant_form uuid:978335e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:339855 biolink:causes Orphanet:496686 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26576 infores:orphanet PMID:27484770|PMID:27485408 Assessed uuid:978335e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:339855 biolink:causes Orphanet:496689 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26576 infores:orphanet PMID:28488683 Assessed uuid:978335e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3313 biolink:causes Orphanet:496751 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5244 infores:orphanet PMID:26598328|PMID:10424819 Assessed uuid:978335e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6905 biolink:causes Orphanet:496756 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11582 infores:orphanet PMID:27666369 Assessed uuid:978335e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55210 biolink:causes Orphanet:496790 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25567 infores:orphanet PMID:27640307 Assessed uuid:978335e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:54809 biolink:causes Orphanet:494433 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1348 infores:orphanet PMID:27182967 Assessed uuid:978335ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:23404 biolink:causes Orphanet:494439 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17097 infores:orphanet PMID:26843489 Assessed uuid:978335eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1729 biolink:causes Orphanet:494444 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2876 infores:orphanet PMID:26912466|PMID:27808407 Assessed gain_of_function_variant_form uuid:978335ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:473 biolink:causes Orphanet:494344 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9965 infores:orphanet PMID:27087320 Assessed loss_of_function_variant_form uuid:978335ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:494547 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9588 infores:orphanet PMID:11801303 Assessed uuid:978335ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:3621 biolink:causes Orphanet:494547 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6062 infores:orphanet PMID:10866301 Assessed uuid:978335ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:8795 biolink:contributes_to Orphanet:494547 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11905 infores:orphanet PMID:9721831 Assessed uuid:978335f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:10846 biolink:causes Orphanet:494541 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8772 infores:orphanet PMID:27058446|PMID:27058447 Assessed uuid:978335f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:10846 biolink:causes Orphanet:494526 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8772 infores:orphanet PMID:27058446 Assessed uuid:978335f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:494550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9588 infores:orphanet PMID:11801303 Assessed uuid:978335f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3621 biolink:causes Orphanet:494550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6062 infores:orphanet PMID:10866301 Assessed uuid:978335f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:8795 biolink:contributes_to Orphanet:494550 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11905 infores:orphanet PMID:9721831 Assessed uuid:978335f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7343 biolink:causes Orphanet:500180 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:12511 infores:orphanet PMID:28777933 Assessed gain_of_function_variant_form uuid:978335f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:114928 biolink:causes Orphanet:500188 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25169 infores:orphanet PMID:28096187 Assessed uuid:978335f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6651 biolink:causes Orphanet:500150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11183 infores:orphanet PMID:27545680|PMID:27545676|PMID:27256762 Assessed loss_of_function_variant_form uuid:978335f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5879 biolink:causes Orphanet:500159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9801 infores:orphanet PMID:28886345 Assessed uuid:978335f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:11322 biolink:causes Orphanet:302 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18021 infores:orphanet PMID:12426567 Assessed loss_of_function_variant_form uuid:978335fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:147138 biolink:causes Orphanet:302 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20474 infores:orphanet PMID:12426567 Assessed loss_of_function_variant_form uuid:978335fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:10519 biolink:causes Orphanet:302 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16920 infores:orphanet PMID:30068544 Assessed uuid:978335fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3574 biolink:causes Orphanet:302 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6023 infores:orphanet PMID:25981006 Assessed uuid:978335fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:25942 biolink:causes Orphanet:500166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19353 infores:orphanet PMID:27399968 Assessed uuid:978335fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:23309 biolink:causes Orphanet:500166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19354 infores:orphanet PMID:33811806 Assessed loss_of_function_variant_form uuid:978335ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:55165 biolink:causes Orphanet:500135 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1161 infores:orphanet PMID:28264986 Assessed loss_of_function_variant_form uuid:97833600-d8a7-11f1-ae73-e4fade41113c NCBIGene:51112 biolink:causes Orphanet:500144 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24284 infores:orphanet PMID:28777934 Assessed uuid:97833601-d8a7-11f1-ae73-e4fade41113c NCBIGene:7874 biolink:gene_associated_with_condition Orphanet:500055 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12630 infores:orphanet PMID:26365382 Assessed uuid:97833602-d8a7-11f1-ae73-e4fade41113c NCBIGene:9158 biolink:causes Orphanet:500095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3705 infores:orphanet PMID:27183861 Assessed loss_of_function_variant_form uuid:97833603-d8a7-11f1-ae73-e4fade41113c NCBIGene:90268 biolink:causes Orphanet:500062 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25118 infores:orphanet PMID:27686184|PMID:27559085|PMID:27523608 Assessed loss_of_function_variant_form uuid:97833604-d8a7-11f1-ae73-e4fade41113c NCBIGene:617 biolink:causes Orphanet:123 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1020 infores:orphanet PMID:17314340|PMID:24172246|PMID:24236502 Assessed uuid:97833605-d8a7-11f1-ae73-e4fade41113c NCBIGene:1462 biolink:causes Orphanet:898 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2464 infores:orphanet PMID:20301747 Assessed uuid:97833606-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:500478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9588 infores:orphanet PMID:11801303 Assessed uuid:97833607-d8a7-11f1-ae73-e4fade41113c NCBIGene:3621 biolink:causes Orphanet:500478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6062 infores:orphanet PMID:10866301 Assessed uuid:97833608-d8a7-11f1-ae73-e4fade41113c NCBIGene:8795 biolink:contributes_to Orphanet:500478 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11905 infores:orphanet PMID:9721831 Assessed uuid:97833609-d8a7-11f1-ae73-e4fade41113c NCBIGene:3122 biolink:gene_associated_with_condition Orphanet:505 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4947 infores:orphanet Not yet assessed uuid:9783360a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10161 biolink:causes Orphanet:170 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15520 infores:orphanet PMID:21426374 Assessed uuid:9783360b-d8a7-11f1-ae73-e4fade41113c NCBIGene:200879 biolink:causes Orphanet:170 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18483 infores:orphanet PMID:21426374 Assessed uuid:9783360c-d8a7-11f1-ae73-e4fade41113c NCBIGene:121391 biolink:causes Orphanet:170 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28929 infores:orphanet PMID:20346438|PMID:21188418 Assessed uuid:9783360d-d8a7-11f1-ae73-e4fade41113c NCBIGene:112802 biolink:causes Orphanet:170 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28927 infores:orphanet PMID:22592156 Assessed uuid:9783360e-d8a7-11f1-ae73-e4fade41113c NCBIGene:147183 biolink:causes Orphanet:170 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30839 infores:orphanet PMID:26160856 Assessed uuid:9783360f-d8a7-11f1-ae73-e4fade41113c NCBIGene:79705 biolink:causes Orphanet:500548 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18608 infores:orphanet PMID:27829680 Assessed uuid:97833610-d8a7-11f1-ae73-e4fade41113c NCBIGene:92335 biolink:causes Orphanet:500533 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30172 infores:orphanet PMID:28688840|PMID:27170158 Assessed loss_of_function_variant_form uuid:97833611-d8a7-11f1-ae73-e4fade41113c NCBIGene:112939 biolink:causes Orphanet:500545 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20967 infores:orphanet PMID:28132692 Assessed uuid:97833612-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:500464 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9588 infores:orphanet PMID:11801303 Assessed uuid:97833613-d8a7-11f1-ae73-e4fade41113c NCBIGene:3621 biolink:causes Orphanet:500464 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6062 infores:orphanet PMID:10866301 Assessed uuid:97833614-d8a7-11f1-ae73-e4fade41113c NCBIGene:8795 biolink:contributes_to Orphanet:500464 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11905 infores:orphanet PMID:9721831 Assessed uuid:97833615-d8a7-11f1-ae73-e4fade41113c NCBIGene:5371 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9113 infores:orphanet PMID:10942371 Assessed uuid:97833616-d8a7-11f1-ae73-e4fade41113c NCBIGene:5573 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9388 infores:orphanet PMID:17712046 Assessed uuid:97833617-d8a7-11f1-ae73-e4fade41113c NCBIGene:5914 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9864 infores:orphanet PMID:10942371 Assessed uuid:97833618-d8a7-11f1-ae73-e4fade41113c NCBIGene:54880 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:20893 infores:orphanet PMID:20807888|PMID:25790901 Assessed uuid:97833619-d8a7-11f1-ae73-e4fade41113c NCBIGene:6777 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11367 infores:orphanet PMID:18221386 Assessed uuid:9783361a-d8a7-11f1-ae73-e4fade41113c NCBIGene:81608 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:19124 infores:orphanet PMID:18603554 Assessed uuid:9783361b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6774 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11364 infores:orphanet PMID:29237593 Assessed uuid:9783361c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4869 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7910 infores:orphanet Assessed uuid:9783361d-d8a7-11f1-ae73-e4fade41113c NCBIGene:64859 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:26232 infores:orphanet PMID:23287866 Assessed uuid:9783361e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7704 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12930 infores:orphanet PMID:8387545|PMID:10942371 Assessed uuid:9783361f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4926 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8059 infores:orphanet PMID:9288109 Assessed uuid:97833620-d8a7-11f1-ae73-e4fade41113c NCBIGene:79718 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:29529 infores:orphanet PMID:24782508 Assessed uuid:97833621-d8a7-11f1-ae73-e4fade41113c NCBIGene:359948 biolink:gene_associated_with_condition Orphanet:520 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:21729 infores:orphanet PMID:25583766|PMID:27193600 Assessed uuid:97833622-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:502363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9588 infores:orphanet PMID:11801303 Assessed uuid:97833623-d8a7-11f1-ae73-e4fade41113c NCBIGene:3621 biolink:causes Orphanet:502363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6062 infores:orphanet PMID:10866301 Assessed uuid:97833624-d8a7-11f1-ae73-e4fade41113c NCBIGene:8795 biolink:contributes_to Orphanet:502363 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11905 infores:orphanet PMID:9721831 Assessed uuid:97833625-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:502366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9588 infores:orphanet PMID:11801303 Assessed uuid:97833626-d8a7-11f1-ae73-e4fade41113c NCBIGene:3621 biolink:causes Orphanet:502366 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6062 infores:orphanet PMID:10866301 Assessed uuid:97833627-d8a7-11f1-ae73-e4fade41113c NCBIGene:8795 biolink:contributes_to Orphanet:502366 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11905 infores:orphanet PMID:9721831 Assessed uuid:97833628-d8a7-11f1-ae73-e4fade41113c NCBIGene:55154 biolink:causes Orphanet:502423 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29678 infores:orphanet PMID:28544275 Assessed uuid:97833629-d8a7-11f1-ae73-e4fade41113c NCBIGene:58499 biolink:causes Orphanet:502430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21684 infores:orphanet PMID:28513610 Assessed uuid:9783362a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10274 biolink:causes Orphanet:502434 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11354 infores:orphanet PMID:28119487 Assessed uuid:9783362b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55331 biolink:causes Orphanet:502444 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16066 infores:orphanet PMID:26792856 Assessed uuid:9783362c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2018 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3341 infores:orphanet PMID:41765865 Assessed uuid:9783362d-d8a7-11f1-ae73-e4fade41113c NCBIGene:60675 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18455 infores:orphanet PMID:17959774|PMID:18682503 Assessed loss_of_function_variant_form uuid:9783362e-d8a7-11f1-ae73-e4fade41113c NCBIGene:128674 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15836 infores:orphanet PMID:18682503 Assessed loss_of_function_variant_form uuid:9783362f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55636 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20626 infores:orphanet PMID:18834967 Assessed uuid:97833630-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3688 infores:orphanet PMID:17235395 Assessed loss_of_function_variant_form uuid:97833631-d8a7-11f1-ae73-e4fade41113c NCBIGene:2798 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4421 infores:orphanet PMID:22918878 Assessed loss_of_function_variant_form uuid:97833632-d8a7-11f1-ae73-e4fade41113c NCBIGene:84634 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4510 infores:orphanet PMID:21193544 Assessed loss_of_function_variant_form uuid:97833633-d8a7-11f1-ae73-e4fade41113c NCBIGene:26012 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29843 infores:orphanet Assessed uuid:97833634-d8a7-11f1-ae73-e4fade41113c NCBIGene:2796 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4419 infores:orphanet PMID:20887715|PMID:20389089 Assessed uuid:97833635-d8a7-11f1-ae73-e4fade41113c NCBIGene:2253 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3686 infores:orphanet PMID:18596921|PMID:20463092 Assessed loss_of_function_variant_form uuid:97833636-d8a7-11f1-ae73-e4fade41113c NCBIGene:6866 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11521 infores:orphanet PMID:19079066 Assessed loss_of_function_variant_form uuid:97833637-d8a7-11f1-ae73-e4fade41113c NCBIGene:6870 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11528 infores:orphanet PMID:19079066 Assessed loss_of_function_variant_form uuid:97833638-d8a7-11f1-ae73-e4fade41113c NCBIGene:55717 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13831 infores:orphanet PMID:20887964 Assessed uuid:97833639-d8a7-11f1-ae73-e4fade41113c NCBIGene:9394 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5201 infores:orphanet PMID:21700882 Assessed loss_of_function_variant_form uuid:9783363a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3814 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6341 infores:orphanet PMID:22335740 Assessed loss_of_function_variant_form uuid:9783363b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8822 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3673 infores:orphanet PMID:23643382 Assessed uuid:9783363c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1848 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3072 infores:orphanet PMID:23643382 Assessed uuid:9783363d-d8a7-11f1-ae73-e4fade41113c NCBIGene:81848 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15533 infores:orphanet PMID:23643382 Assessed uuid:9783363e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4808 biolink:causes Orphanet:432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7818 infores:orphanet PMID:35066646 Assessed uuid:9783363f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1588 biolink:causes Orphanet:91 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2594 infores:orphanet PMID:21521281 Assessed loss_of_function_variant_form uuid:97833640-d8a7-11f1-ae73-e4fade41113c NCBIGene:2099 biolink:causes Orphanet:785 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3467 infores:orphanet PMID:8090165|PMID:23841731 Assessed loss_of_function_variant_form uuid:97833641-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:873 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:2514 infores:orphanet Assessed uuid:97833642-d8a7-11f1-ae73-e4fade41113c NCBIGene:324 biolink:causes Orphanet:873 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:583 infores:orphanet Assessed uuid:97833643-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:gene_associated_with_condition Orphanet:703 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4948 infores:orphanet PMID:8710911|PMID:23806156 Not yet assessed uuid:97833644-d8a7-11f1-ae73-e4fade41113c NCBIGene:3119 biolink:gene_associated_with_condition Orphanet:703 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4944 infores:orphanet PMID:8710911|PMID:23806156 Not yet assessed uuid:97833645-d8a7-11f1-ae73-e4fade41113c NCBIGene:3872 biolink:causes Orphanet:841 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6427 infores:orphanet PMID:26165312 Assessed uuid:97833646-d8a7-11f1-ae73-e4fade41113c NCBIGene:1540 biolink:causes Orphanet:867 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2584 infores:orphanet PMID:19462465 Assessed uuid:97833647-d8a7-11f1-ae73-e4fade41113c NCBIGene:4598 biolink:causes Orphanet:735 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7530 infores:orphanet PMID:26202976 Assessed uuid:97833648-d8a7-11f1-ae73-e4fade41113c NCBIGene:10654 biolink:causes Orphanet:735 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9141 infores:orphanet PMID:26202976 Assessed uuid:97833649-d8a7-11f1-ae73-e4fade41113c NCBIGene:55697 biolink:causes Orphanet:497906 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25507 infores:orphanet PMID:27292112 Assessed uuid:9783364a-d8a7-11f1-ae73-e4fade41113c NCBIGene:51360 biolink:causes Orphanet:659 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15455 infores:orphanet PMID:22931912 Assessed uuid:9783364b-d8a7-11f1-ae73-e4fade41113c NCBIGene:162514 biolink:causes Orphanet:659 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:18084 infores:orphanet PMID:22405088 Assessed gain_of_function_variant_form uuid:9783364c-d8a7-11f1-ae73-e4fade41113c NCBIGene:64065 biolink:causes Orphanet:659 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17637 infores:orphanet PMID:30321533 Assessed uuid:9783364d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2271 biolink:causes Orphanet:523 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3700 infores:orphanet PMID:15937070|PMID:21398687 Assessed uuid:9783364e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4311 biolink:causes Orphanet:497757 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7154 infores:orphanet PMID:27588448 Assessed loss_of_function_variant_form uuid:9783364f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4311 biolink:causes Orphanet:497764 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7154 infores:orphanet PMID:27583304 Assessed uuid:97833650-d8a7-11f1-ae73-e4fade41113c NCBIGene:1893 biolink:causes Orphanet:530 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3153 infores:orphanet PMID:17063986|PMID:17927570|PMID:18690317 Assessed loss_of_function_variant_form uuid:97833651-d8a7-11f1-ae73-e4fade41113c NCBIGene:8328 biolink:causes Orphanet:734 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4238 infores:orphanet PMID:28041820 Assessed uuid:97833652-d8a7-11f1-ae73-e4fade41113c NCBIGene:23218 biolink:causes Orphanet:721 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:31928 infores:orphanet PMID:21765411|PMID:21765412 Assessed loss_of_function_variant_form uuid:97833653-d8a7-11f1-ae73-e4fade41113c NCBIGene:5340 biolink:causes Orphanet:722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9071 infores:orphanet PMID:16849641 Assessed uuid:97833654-d8a7-11f1-ae73-e4fade41113c NCBIGene:3818 biolink:causes Orphanet:749 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6371 infores:orphanet PMID:15461630|PMID:20301226 Assessed uuid:97833655-d8a7-11f1-ae73-e4fade41113c NCBIGene:2811 biolink:gene_associated_with_condition Orphanet:853 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4439 infores:orphanet Not yet assessed uuid:97833656-d8a7-11f1-ae73-e4fade41113c NCBIGene:2812 biolink:gene_associated_with_condition Orphanet:853 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4440 infores:orphanet Not yet assessed uuid:97833657-d8a7-11f1-ae73-e4fade41113c NCBIGene:3674 biolink:gene_associated_with_condition Orphanet:853 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6138 infores:orphanet Not yet assessed uuid:97833658-d8a7-11f1-ae73-e4fade41113c NCBIGene:3690 biolink:contributes_to Orphanet:853 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6156 infores:orphanet PMID:19821948 Assessed uuid:97833659-d8a7-11f1-ae73-e4fade41113c NCBIGene:3673 biolink:gene_associated_with_condition Orphanet:853 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6137 infores:orphanet Not yet assessed uuid:9783365a-d8a7-11f1-ae73-e4fade41113c NCBIGene:135228 biolink:gene_associated_with_condition Orphanet:853 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:21685 infores:orphanet Not yet assessed uuid:9783365b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3827 biolink:causes Orphanet:483 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6383 infores:orphanet PMID:17522339 Assessed uuid:9783365c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1080 biolink:gene_associated_with_condition Orphanet:498359 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1884 infores:orphanet Not yet assessed uuid:9783365d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7454 biolink:causes Orphanet:852 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12731 infores:orphanet PMID:20301357 Assessed uuid:9783365e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5054 biolink:causes Orphanet:465 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8583 infores:orphanet PMID:9207454 Assessed uuid:9783365f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3350 biolink:gene_associated_with_condition Orphanet:498251 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:5286 infores:orphanet PMID:21990073 Not yet assessed uuid:97833660-d8a7-11f1-ae73-e4fade41113c NCBIGene:79577 biolink:causes Orphanet:143 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:16783 infores:orphanet PMID:14585940|PMID:15719375 Assessed uuid:97833661-d8a7-11f1-ae73-e4fade41113c NCBIGene:2908 biolink:causes Orphanet:786 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7978 infores:orphanet PMID:23076843|PMID:19933394 Assessed uuid:97833662-d8a7-11f1-ae73-e4fade41113c NCBIGene:10060 biolink:gene_associated_with_condition Orphanet:334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:60 infores:orphanet PMID:17245405 Not yet assessed uuid:97833663-d8a7-11f1-ae73-e4fade41113c NCBIGene:5308 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9005 infores:orphanet PMID:24333117 Assessed loss_of_function_variant_form uuid:97833664-d8a7-11f1-ae73-e4fade41113c NCBIGene:6324 biolink:gene_associated_with_condition Orphanet:334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10586 infores:orphanet PMID:19808477 Not yet assessed uuid:97833665-d8a7-11f1-ae73-e4fade41113c NCBIGene:6331 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10593 infores:orphanet PMID:18929244|PMID:18378609|PMID:24582607 Assessed gain_of_function_variant_form uuid:97833666-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:contributes_to Orphanet:334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12403 infores:orphanet PMID:30333491 Assessed uuid:97833667-d8a7-11f1-ae73-e4fade41113c NCBIGene:2626 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4173 infores:orphanet PMID:21708142|PMID:21874226|PMID:22552926 Assessed loss_of_function_variant_form uuid:97833668-d8a7-11f1-ae73-e4fade41113c NCBIGene:3753 biolink:gene_associated_with_condition Orphanet:334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6240 infores:orphanet PMID:22471742 Not yet assessed uuid:97833669-d8a7-11f1-ae73-e4fade41113c NCBIGene:9992 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6242 infores:orphanet PMID:15368194 Assessed gain_of_function_variant_form uuid:9783366a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3759 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6263 infores:orphanet PMID:15922306 Assessed gain_of_function_variant_form uuid:9783366b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3784 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6294 infores:orphanet PMID:12522251|PMID:22471742 Assessed gain_of_function_variant_form uuid:9783366c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2488 infores:orphanet PMID:23525379|PMID:22818067 Assessed loss_of_function_variant_form uuid:9783366d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2702 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4279 infores:orphanet PMID:20650941 Assessed uuid:9783366e-d8a7-11f1-ae73-e4fade41113c NCBIGene:137814 biolink:gene_associated_with_condition Orphanet:334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:32940 infores:orphanet PMID:25319568 Not yet assessed uuid:9783366f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6330 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10592 infores:orphanet PMID:23604097 Assessed uuid:97833670-d8a7-11f1-ae73-e4fade41113c NCBIGene:3741 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6224 infores:orphanet PMID:19343045|PMID:16772329 Assessed loss_of_function_variant_form uuid:97833671-d8a7-11f1-ae73-e4fade41113c NCBIGene:9631 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8063 infores:orphanet PMID:19070573 Assessed loss_of_function_variant_form uuid:97833672-d8a7-11f1-ae73-e4fade41113c NCBIGene:4878 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7939 infores:orphanet PMID:18614783 Assessed uuid:97833673-d8a7-11f1-ae73-e4fade41113c NCBIGene:55800 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20665 infores:orphanet PMID:20558140|PMID:21051419 Assessed loss_of_function_variant_form uuid:97833674-d8a7-11f1-ae73-e4fade41113c NCBIGene:3762 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6266 infores:orphanet PMID:30764634 Assessed uuid:97833675-d8a7-11f1-ae73-e4fade41113c NCBIGene:2627 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4174 infores:orphanet PMID:22824924|PMID:22750565|PMID:22257684 Assessed loss_of_function_variant_form uuid:97833676-d8a7-11f1-ae73-e4fade41113c NCBIGene:140628 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15802 infores:orphanet PMID:22483626|PMID:23175127|PMID:23295592 Assessed loss_of_function_variant_form uuid:97833677-d8a7-11f1-ae73-e4fade41113c NCBIGene:6327 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10589 infores:orphanet PMID:19808477 Assessed loss_of_function_variant_form uuid:97833678-d8a7-11f1-ae73-e4fade41113c NCBIGene:4635 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7585 infores:orphanet PMID:27066836 Assessed uuid:97833679-d8a7-11f1-ae73-e4fade41113c NCBIGene:3760 biolink:causes Orphanet:334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6264 infores:orphanet PMID:30764634 Assessed uuid:9783367a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5573 biolink:causes Orphanet:615 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9388 infores:orphanet PMID:10973256 Assessed uuid:9783367b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57539 biolink:causes Orphanet:498497 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29250 infores:orphanet PMID:17935248|PMID:21473986 Assessed loss_of_function_variant_form uuid:9783367c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4604 biolink:causes Orphanet:498693 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7549 infores:orphanet PMID:26661508 Assessed uuid:9783367d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55806 biolink:causes Orphanet:444 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5172 infores:orphanet PMID:19122663 Assessed uuid:9783367e-d8a7-11f1-ae73-e4fade41113c NCBIGene:79574 biolink:causes Orphanet:444 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21297 infores:orphanet PMID:23099647 Assessed uuid:9783367f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:causes Orphanet:498481 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6697 infores:orphanet PMID:15824851 Assessed uuid:97833680-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:contributes_to Orphanet:498481 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6697 infores:orphanet PMID:15824851|PMID:22487062 Assessed uuid:97833681-d8a7-11f1-ae73-e4fade41113c NCBIGene:3887 biolink:causes Orphanet:573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6458 infores:orphanet PMID:9402962|PMID:9665406 Assessed uuid:97833682-d8a7-11f1-ae73-e4fade41113c NCBIGene:3889 biolink:causes Orphanet:573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6460 infores:orphanet PMID:15744029 Assessed uuid:97833683-d8a7-11f1-ae73-e4fade41113c NCBIGene:3892 biolink:causes Orphanet:573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6463 infores:orphanet PMID:9241275|PMID:22670615 Assessed uuid:97833684-d8a7-11f1-ae73-e4fade41113c NCBIGene:147409 biolink:causes Orphanet:573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21307 infores:orphanet PMID:16575393|PMID:21495994 Assessed uuid:97833685-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:840 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:25532942 Assessed uuid:97833686-d8a7-11f1-ae73-e4fade41113c NCBIGene:5307 biolink:gene_associated_with_condition Orphanet:498494 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9004 infores:orphanet PMID:22258522 Assessed uuid:97833687-d8a7-11f1-ae73-e4fade41113c NCBIGene:56916 biolink:causes Orphanet:384 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18398 infores:orphanet PMID:29409814 Assessed uuid:97833688-d8a7-11f1-ae73-e4fade41113c NCBIGene:103 biolink:causes Orphanet:41 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:225 infores:orphanet PMID:12916015 Assessed uuid:97833689-d8a7-11f1-ae73-e4fade41113c NCBIGene:201163 biolink:causes Orphanet:122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27310 infores:orphanet PMID:20301695 Assessed uuid:9783368a-d8a7-11f1-ae73-e4fade41113c NCBIGene:56980 biolink:causes Orphanet:122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13995 infores:orphanet PMID:37331486 Assessed uuid:9783368b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55297 biolink:causes Orphanet:38 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24855 infores:orphanet PMID:38627542 Assessed uuid:9783368c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:241 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:47 infores:orphanet PMID:23519333 Assessed uuid:9783368d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3889 biolink:causes Orphanet:316 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6460 infores:orphanet PMID:27965375 Assessed loss_of_function_variant_form uuid:9783368e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4014 biolink:gene_associated_with_condition Orphanet:316 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6663 infores:orphanet Not yet assessed uuid:9783368f-d8a7-11f1-ae73-e4fade41113c NCBIGene:54795 biolink:causes Orphanet:316 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:17993 infores:orphanet PMID:30528822 Assessed gain_of_function_variant_form uuid:97833690-d8a7-11f1-ae73-e4fade41113c NCBIGene:2531 biolink:causes Orphanet:316 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4021 infores:orphanet PMID:28575652 Assessed loss_of_function_variant_form uuid:97833691-d8a7-11f1-ae73-e4fade41113c NCBIGene:1540 biolink:causes Orphanet:211 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2584 infores:orphanet PMID:19462465 Assessed uuid:97833692-d8a7-11f1-ae73-e4fade41113c NCBIGene:55612 biolink:causes Orphanet:2908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15889 infores:orphanet PMID:22466645 Assessed loss_of_function_variant_form uuid:97833693-d8a7-11f1-ae73-e4fade41113c NCBIGene:3930 biolink:gene_associated_with_condition Orphanet:779 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6518 infores:orphanet PMID:20522425 Not yet assessed uuid:97833694-d8a7-11f1-ae73-e4fade41113c NCBIGene:51008 biolink:causes Orphanet:486811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24268 infores:orphanet PMID:26924529|PMID:28218388 Assessed uuid:97833695-d8a7-11f1-ae73-e4fade41113c NCBIGene:9325 biolink:causes Orphanet:486811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12310 infores:orphanet PMID:26924529|PMID:28218388 Assessed uuid:97833696-d8a7-11f1-ae73-e4fade41113c NCBIGene:9325 biolink:causes Orphanet:486815 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12310 infores:orphanet PMID:27008887 Assessed uuid:97833697-d8a7-11f1-ae73-e4fade41113c NCBIGene:11117 biolink:causes Orphanet:485418 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19880 infores:orphanet PMID:26462740 Assessed uuid:97833698-d8a7-11f1-ae73-e4fade41113c NCBIGene:56947 biolink:causes Orphanet:485421 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24858 infores:orphanet PMID:26783368|PMID:22499341 Assessed loss_of_function_variant_form uuid:97833699-d8a7-11f1-ae73-e4fade41113c NCBIGene:1183 biolink:causes Orphanet:485350 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2022 infores:orphanet PMID:27550844 Assessed uuid:9783369a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:contributes_to Orphanet:485275 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10848 infores:orphanet PMID:19533790|PMID:20157829 Assessed uuid:9783369b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6496 biolink:contributes_to Orphanet:485275 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10889 infores:orphanet PMID:20157829 Assessed uuid:9783369c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2018 biolink:contributes_to Orphanet:485275 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3341 infores:orphanet PMID:8528262|PMID:9153481|PMID:9359037|PMID:17506092 Assessed uuid:9783369d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:482606 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3754 infores:orphanet PMID:26804200|PMID:26686323 Assessed loss_of_function_variant_form uuid:9783369e-d8a7-11f1-ae73-e4fade41113c NCBIGene:122622 biolink:causes Orphanet:482601 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20093 infores:orphanet PMID:26506222|PMID:27868399|PMID:28268051 Assessed uuid:9783369f-d8a7-11f1-ae73-e4fade41113c NCBIGene:659 biolink:gene_associated_with_condition Orphanet:31837 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1078 infores:orphanet PMID:12446270|PMID:18626305 Not yet assessed uuid:978336a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:440275 biolink:causes Orphanet:31837 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19687 infores:orphanet PMID:24292273 Assessed loss_of_function_variant_form uuid:978336a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:128989 biolink:causes Orphanet:480864 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25439 infores:orphanet PMID:26805781|PMID:26805782 Assessed loss_of_function_variant_form uuid:978336a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6872 biolink:causes Orphanet:480907 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11535 infores:orphanet PMID:26637982 Assessed uuid:978336a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:23065 biolink:causes Orphanet:480898 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28957 infores:orphanet PMID:26942288 Assessed uuid:978336a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:8239 biolink:causes Orphanet:480880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12632 infores:orphanet PMID:26833328 Assessed loss_of_function_variant_form uuid:978336a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:51473 biolink:causes Orphanet:480556 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18141 infores:orphanet PMID:27319779|PMID:27469900 Assessed uuid:978336a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:596 biolink:gene_associated_with_condition Orphanet:480541 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:990 infores:orphanet PMID:21119107|PMID:27888878|PMID:27717585 Assessed uuid:978336a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:604 biolink:gene_associated_with_condition Orphanet:480541 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1001 infores:orphanet PMID:21119107|PMID:27888878|PMID:27717585 Assessed uuid:978336a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4609 biolink:gene_associated_with_condition Orphanet:480541 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7553 infores:orphanet PMID:21119107|PMID:27888878|PMID:27717585 Assessed uuid:978336a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6714 biolink:causes Orphanet:480851 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11283 infores:orphanet PMID:26936507 Assessed gain_of_function_variant_form uuid:978336aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:56983 biolink:causes Orphanet:480682 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22954 infores:orphanet PMID:27807076 Assessed uuid:978336ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:11274 biolink:causes Orphanet:481665 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12616 infores:orphanet PMID:27325888|PMID:27821552 Assessed loss_of_function_variant_form uuid:978336ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:5654 biolink:causes Orphanet:482077 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9476 infores:orphanet PMID:26063658 Assessed uuid:978336ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:1282 biolink:causes Orphanet:481986 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2202 infores:orphanet PMID:23225343|PMID:25500781|PMID:26576802 Assessed uuid:978336ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:29920 biolink:causes Orphanet:481152 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30262 infores:orphanet PMID:25865492|PMID:27130255 Assessed loss_of_function_variant_form uuid:978336af-d8a7-11f1-ae73-e4fade41113c NCBIGene:11277 biolink:causes Orphanet:481662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12269 infores:orphanet PMID:27566796 Assessed loss_of_function_variant_form uuid:978336b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:25939 biolink:causes Orphanet:481662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15925 infores:orphanet PMID:27566796 Assessed loss_of_function_variant_form uuid:978336b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:340061 biolink:causes Orphanet:481662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:27962 infores:orphanet PMID:27566796 Assessed gain_of_function_variant_form uuid:978336b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9971 biolink:causes Orphanet:480476 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7967 infores:orphanet PMID:26888176 Assessed loss_of_function_variant_form uuid:978336b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4645 biolink:causes Orphanet:480491 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7603 infores:orphanet PMID:27532546 Assessed uuid:978336b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:9414 biolink:causes Orphanet:480483 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11828 infores:orphanet PMID:26983395|PMID:24614073 Assessed uuid:978336b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5327 biolink:causes Orphanet:480528 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9051 infores:orphanet PMID:27417437|PMID:6401391|PMID:665314 Assessed uuid:978336b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4437 biolink:causes Orphanet:480536 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7326 infores:orphanet PMID:27476653 Assessed loss_of_function_variant_form uuid:978336b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1729 biolink:causes Orphanet:477814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2876 infores:orphanet PMID:24781755|PMID:2643574 Assessed loss_of_function_variant_form uuid:978336b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5321 biolink:causes Orphanet:477787 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9035 infores:orphanet PMID:25102815|PMID:18451993 Assessed uuid:978336b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:25828 biolink:causes Orphanet:478029 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17772 infores:orphanet PMID:26626369 Assessed loss_of_function_variant_form uuid:978336ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:54931 biolink:causes Orphanet:478042 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26022 infores:orphanet PMID:27132592 Assessed uuid:978336bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:23028 biolink:causes Orphanet:477993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29079 infores:orphanet PMID:24838796|PMID:26656649 Assessed uuid:978336bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6097 biolink:causes Orphanet:477857 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10260 infores:orphanet PMID:26160376 Assessed uuid:978336bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:10743 biolink:gene_associated_with_condition Orphanet:477817 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9834 infores:orphanet PMID:26544804 Assessed uuid:978336be-d8a7-11f1-ae73-e4fade41113c NCBIGene:5159 biolink:causes Orphanet:477831 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8804 infores:orphanet PMID:25454926|PMID:26455322 Assessed uuid:978336bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:4285 biolink:causes Orphanet:478049 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7104 infores:orphanet PMID:27799064|PMID:25778941 Assessed uuid:978336c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:59335 biolink:causes Orphanet:478664 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13997 infores:orphanet PMID:26005867|PMID:26975306|PMID:28050684 Assessed uuid:978336c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:59067 biolink:causes Orphanet:477661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6005 infores:orphanet PMID:19890111|PMID:24746753 Assessed uuid:978336c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:57570 biolink:causes Orphanet:477684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23141 infores:orphanet PMID:26189817 Assessed uuid:978336c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:84706 biolink:causes Orphanet:477673 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18062 infores:orphanet PMID:25758935|PMID:27601654 Assessed uuid:978336c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:gene_associated_with_condition Orphanet:477738 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:4948 infores:orphanet PMID:14669136|PMID:8181961 Not yet assessed uuid:978336c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3119 biolink:gene_associated_with_condition Orphanet:477738 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:4944 infores:orphanet PMID:14669136|PMID:8181961 Not yet assessed uuid:978336c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1282 biolink:causes Orphanet:477749 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2202 infores:orphanet PMID:27666438 Assessed uuid:978336c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4627 biolink:gene_associated_with_condition Orphanet:477742 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7579 infores:orphanet PMID:21826056 Assessed uuid:978336c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9098 biolink:gene_associated_with_condition Orphanet:477742 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12629 infores:orphanet PMID:21826056 Assessed uuid:978336c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:79587 biolink:causes Orphanet:477774 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25695 infores:orphanet PMID:25787132|PMID:25361775 Assessed uuid:978336ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:476119 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet PMID:25782671 Assessed uuid:978336cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7037 biolink:causes Orphanet:476113 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11763 infores:orphanet PMID:26642240 Assessed uuid:978336cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:7204 biolink:causes Orphanet:476126 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12303 infores:orphanet PMID:26721934 Assessed loss_of_function_variant_form uuid:978336cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:7170 biolink:causes Orphanet:476406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:12012 infores:orphanet PMID:26418456 Assessed gain_of_function_variant_form uuid:978336ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:5375 biolink:causes Orphanet:476394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9117 infores:orphanet PMID:26828946 Assessed uuid:978336cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:30817 biolink:causes Orphanet:493342 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3337 infores:orphanet PMID:26841242 Assessed gain_of_function_variant_form uuid:978336d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:9894 biolink:causes Orphanet:488642 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29099 infores:orphanet PMID:27132593 Assessed uuid:978336d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:51428 biolink:contributes_to Orphanet:488647 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:18674 infores:orphanet PMID:26712909|PMID:25920683 Assessed uuid:978336d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:859 biolink:causes Orphanet:488650 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1529 infores:orphanet PMID:11805270|PMID:18930476 Assessed uuid:978336d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7086 biolink:causes Orphanet:488618 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11834 infores:orphanet PMID:27259054 Assessed uuid:978336d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:83480 biolink:causes Orphanet:488627 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25461 infores:orphanet PMID:27055666 Assessed uuid:978336d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:93627 biolink:causes Orphanet:488632 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28261 infores:orphanet PMID:27040691|PMID:27040692|PMID:27275012|PMID:27748029|PMID:18541960 Assessed uuid:978336d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:54872 biolink:causes Orphanet:488635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25985 infores:orphanet PMID:26996948|PMID:28581210 Assessed loss_of_function_variant_form uuid:978336d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4233 biolink:causes Orphanet:488265 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:7029 infores:orphanet PMID:26637977|PMID:8276381|PMID:9234973 Assessed gain_of_function_variant_form uuid:978336d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:51776 biolink:causes Orphanet:488232 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17797 infores:orphanet PMID:26755636 Assessed uuid:978336d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3035 biolink:causes Orphanet:488333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4816 infores:orphanet PMID:26072516 Assessed loss_of_function_variant_form uuid:978336da-d8a7-11f1-ae73-e4fade41113c NCBIGene:10736 biolink:gene_associated_with_condition Orphanet:488437 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:10888 infores:orphanet PMID:26581443|PMID:27920634 Assessed uuid:978336db-d8a7-11f1-ae73-e4fade41113c NCBIGene:2782 biolink:causes Orphanet:488613 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4396 infores:orphanet PMID:27108799|PMID:28087732|PMID:27668284 Assessed uuid:978336dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:823 biolink:causes Orphanet:488594 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1476 infores:orphanet PMID:201727153400 Assessed loss_of_function_variant_form uuid:978336dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:406987 biolink:causes Orphanet:488197 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:31582 infores:orphanet PMID:26056285|PMID:26159420 Assessed gain_of_function_variant_form uuid:978336de-d8a7-11f1-ae73-e4fade41113c NCBIGene:6307 biolink:causes Orphanet:488168 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10545 infores:orphanet PMID:21285510|PMID:24144731|PMID:23042573 Assessed uuid:978336df-d8a7-11f1-ae73-e4fade41113c NCBIGene:402569 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21839 infores:orphanet PMID:36647821 Assessed uuid:978336e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:55655 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22948 infores:orphanet PMID:30877238 Assessed uuid:978336e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:126206 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21269 infores:orphanet PMID:35946397 Assessed uuid:978336e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4342 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7199 infores:orphanet PMID:34779126|PMID:34997960 Assessed uuid:978336e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1111 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1925 infores:orphanet PMID:33953335 Assessed uuid:978336e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:353238 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20449 infores:orphanet PMID:27545678 Assessed uuid:978336e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:286151 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28521 infores:orphanet PMID:34052850 Assessed uuid:978336e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:197135 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:33630 infores:orphanet PMID:28965849 Assessed loss_of_function_variant_form uuid:978336e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:347688 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20773 infores:orphanet PMID:26789871 Assessed uuid:978336e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:494551 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19684 infores:orphanet PMID:29606300 Assessed loss_of_function_variant_form uuid:978336e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:24145 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:8599 infores:orphanet PMID:33495594 Assessed gain_of_function_variant_form uuid:978336ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:678 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1108 infores:orphanet PMID:34611029 Assessed uuid:978336eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:79816 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30788 infores:orphanet PMID:26537248 Assessed uuid:978336ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:991 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1723 infores:orphanet PMID:32666501|PMID:33683667 Assessed uuid:978336ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:199713 biolink:causes Orphanet:488191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22947 infores:orphanet PMID:37148315 Assessed uuid:978336ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:998 biolink:causes Orphanet:487796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1736 infores:orphanet PMID:26386261|PMID:26708094 Assessed uuid:978336ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:84649 biolink:causes Orphanet:487814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16940 infores:orphanet PMID:26786738 Assessed uuid:978336f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:79718 biolink:causes Orphanet:487825 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29529 infores:orphanet PMID:26769062|PMID:28562391|PMID:21834056 Assessed uuid:978336f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:19 biolink:causes Orphanet:31150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29 infores:orphanet PMID:10535983 Assessed uuid:978336f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:10686 biolink:causes Orphanet:31043 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2037 infores:orphanet PMID:18816383|PMID:11518780|PMID:10878661 Assessed loss_of_function_variant_form uuid:978336f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1277 biolink:gene_associated_with_condition Orphanet:31112 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2197 infores:orphanet Assessed uuid:978336f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5155 biolink:gene_associated_with_condition Orphanet:31112 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8800 infores:orphanet Assessed uuid:978336f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:140803 biolink:causes Orphanet:30924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17995 infores:orphanet PMID:12032570|PMID:12032568 Assessed uuid:978336f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:551 biolink:causes Orphanet:30925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:894 infores:orphanet PMID:14673472 Assessed loss_of_function_variant_form uuid:978336f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:11149 biolink:causes Orphanet:476084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1152 infores:orphanet PMID:26642364 Assessed uuid:978336f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:476096 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:26604139 Assessed uuid:978336f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:26353 biolink:causes Orphanet:476093 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30171 infores:orphanet PMID:26718575 Assessed uuid:978336fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:2752 biolink:causes Orphanet:71278 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4341 infores:orphanet PMID:16267323 Assessed loss_of_function_variant_form uuid:978336fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1749 biolink:causes Orphanet:71271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2918 infores:orphanet PMID:22121204 Assessed uuid:978336fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6005 biolink:causes Orphanet:71275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10006 infores:orphanet PMID:8563755|PMID:9716608 Assessed uuid:978336fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6006 biolink:causes Orphanet:71275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10008 infores:orphanet PMID:9657766|PMID:9657769 Assessed uuid:978336fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:6007 biolink:causes Orphanet:71275 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10009 infores:orphanet PMID:9657769 Assessed uuid:978336ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:6513 biolink:causes Orphanet:71277 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11005 infores:orphanet PMID:20301603|PMID:23890838 Assessed loss_of_function_variant_form uuid:97833700-d8a7-11f1-ae73-e4fade41113c NCBIGene:3033 biolink:causes Orphanet:71212 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4799 infores:orphanet Assessed uuid:97833701-d8a7-11f1-ae73-e4fade41113c NCBIGene:51135 biolink:causes Orphanet:70592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17967 infores:orphanet Assessed uuid:97833702-d8a7-11f1-ae73-e4fade41113c NCBIGene:4615 biolink:causes Orphanet:70592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7562 infores:orphanet PMID:31301515 Assessed uuid:97833703-d8a7-11f1-ae73-e4fade41113c NCBIGene:5428 biolink:causes Orphanet:70595 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9179 infores:orphanet PMID:12565911|PMID:16919951 Assessed uuid:97833704-d8a7-11f1-ae73-e4fade41113c NCBIGene:56652 biolink:gene_associated_with_condition Orphanet:70595 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1160 infores:orphanet PMID:15668446 Not yet assessed uuid:97833705-d8a7-11f1-ae73-e4fade41113c NCBIGene:6697 biolink:causes Orphanet:70594 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11257 infores:orphanet Assessed uuid:97833706-d8a7-11f1-ae73-e4fade41113c NCBIGene:5925 biolink:causes Orphanet:70573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9884 infores:orphanet PMID:26168399 Assessed uuid:97833707-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:70573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11998 infores:orphanet PMID:26168399 Assessed uuid:97833708-d8a7-11f1-ae73-e4fade41113c NCBIGene:7161 biolink:causes Orphanet:70573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12003 infores:orphanet PMID:26168399 Assessed uuid:97833709-d8a7-11f1-ae73-e4fade41113c NCBIGene:10128 biolink:causes Orphanet:70472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15714 infores:orphanet PMID:12529507 Assessed uuid:9783370a-d8a7-11f1-ae73-e4fade41113c NCBIGene:672 biolink:causes Orphanet:70567 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1100 infores:orphanet PMID:32576609 Assessed uuid:9783370b-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:causes Orphanet:70567 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1101 infores:orphanet PMID:32576609 Assessed uuid:9783370c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5774 biolink:causes Orphanet:70567 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9655 infores:orphanet PMID:24503127 Assessed uuid:9783370d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6098 biolink:gene_associated_with_condition Orphanet:70567 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10261 infores:orphanet PMID:21253578 Assessed uuid:9783370e-d8a7-11f1-ae73-e4fade41113c NCBIGene:54345 biolink:causes Orphanet:69735 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11194 infores:orphanet PMID:24697860 Assessed uuid:9783370f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3198 biolink:causes Orphanet:69737 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5099 infores:orphanet PMID:17875913 Assessed uuid:97833710-d8a7-11f1-ae73-e4fade41113c NCBIGene:3198 biolink:causes Orphanet:69739 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5099 infores:orphanet PMID:18412118 Assessed uuid:97833711-d8a7-11f1-ae73-e4fade41113c NCBIGene:5244 biolink:causes Orphanet:69663 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:45 infores:orphanet PMID:17562004 Assessed loss_of_function_variant_form uuid:97833712-d8a7-11f1-ae73-e4fade41113c NCBIGene:8647 biolink:contributes_to Orphanet:69665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:42 infores:orphanet PMID:23022423 Assessed uuid:97833713-d8a7-11f1-ae73-e4fade41113c NCBIGene:5244 biolink:contributes_to Orphanet:69665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:45 infores:orphanet PMID:23022423 Assessed uuid:97833714-d8a7-11f1-ae73-e4fade41113c NCBIGene:5205 biolink:contributes_to Orphanet:69665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3706 infores:orphanet PMID:15888793 Assessed uuid:97833715-d8a7-11f1-ae73-e4fade41113c NCBIGene:9971 biolink:gene_associated_with_condition Orphanet:69665 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7967 infores:orphanet PMID:23142591 Not yet assessed uuid:97833716-d8a7-11f1-ae73-e4fade41113c NCBIGene:3242 biolink:causes Orphanet:69723 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5147 infores:orphanet PMID:10942115 Assessed loss_of_function_variant_form uuid:97833717-d8a7-11f1-ae73-e4fade41113c NCBIGene:9051 biolink:causes Orphanet:69126 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9580 infores:orphanet Assessed uuid:97833718-d8a7-11f1-ae73-e4fade41113c NCBIGene:3861 biolink:causes Orphanet:69087 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6416 infores:orphanet Assessed uuid:97833719-d8a7-11f1-ae73-e4fade41113c NCBIGene:8517 biolink:causes Orphanet:69088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5961 infores:orphanet Assessed uuid:9783371a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:causes Orphanet:69085 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15979 infores:orphanet PMID:11462173 Assessed uuid:9783371b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3891 biolink:causes Orphanet:69084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6462 infores:orphanet PMID:16525032 Assessed uuid:9783371c-d8a7-11f1-ae73-e4fade41113c NCBIGene:121391 biolink:causes Orphanet:69084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28929 infores:orphanet PMID:24714551 Assessed loss_of_function_variant_form uuid:9783371d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3229 biolink:causes Orphanet:69084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5125 infores:orphanet PMID:23063621 Assessed loss_of_function_variant_form uuid:9783371e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6524 biolink:causes Orphanet:69076 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11037 infores:orphanet PMID:14614622|PMID:21165652|PMID:24255686 Assessed uuid:9783371f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4311 biolink:causes Orphanet:69063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7154 infores:orphanet PMID:15464186 Assessed uuid:97833720-d8a7-11f1-ae73-e4fade41113c NCBIGene:549 biolink:causes Orphanet:67046 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:890 infores:orphanet PMID:12434311|PMID:12655555 Assessed loss_of_function_variant_form uuid:97833721-d8a7-11f1-ae73-e4fade41113c NCBIGene:80207 biolink:causes Orphanet:67047 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8142 infores:orphanet PMID:20301646 Assessed uuid:97833722-d8a7-11f1-ae73-e4fade41113c NCBIGene:125988 biolink:causes Orphanet:67047 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33702 infores:orphanet PMID:27485409 Assessed uuid:97833723-d8a7-11f1-ae73-e4fade41113c NCBIGene:2623 biolink:causes Orphanet:67044 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4170 infores:orphanet Assessed uuid:97833724-d8a7-11f1-ae73-e4fade41113c NCBIGene:6658 biolink:causes Orphanet:67045 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11199 infores:orphanet PMID:12428212|PMID:22139958 Assessed uuid:97833725-d8a7-11f1-ae73-e4fade41113c NCBIGene:114902 biolink:causes Orphanet:67042 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14344 infores:orphanet PMID:12944416 Assessed uuid:97833726-d8a7-11f1-ae73-e4fade41113c NCBIGene:3373 biolink:causes Orphanet:67041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5320 infores:orphanet PMID:10339581 Assessed uuid:97833727-d8a7-11f1-ae73-e4fade41113c NCBIGene:595 biolink:gene_associated_with_condition Orphanet:67038 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1582 infores:orphanet Assessed uuid:97833728-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:67038 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11998 infores:orphanet PMID:21435757|PMID:17920683|PMID:16737921|PMID:16938579|PMID:21205967 Assessed uuid:97833729-d8a7-11f1-ae73-e4fade41113c NCBIGene:115761 biolink:contributes_to Orphanet:67038 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:24046 infores:orphanet PMID:15843669 Assessed uuid:9783372a-d8a7-11f1-ae73-e4fade41113c NCBIGene:472 biolink:causes Orphanet:67038 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:795 infores:orphanet PMID:10397742 Assessed uuid:9783372b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3500 biolink:gene_associated_with_condition Orphanet:67038 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:5525 infores:orphanet Assessed uuid:9783372c-d8a7-11f1-ae73-e4fade41113c NCBIGene:28444 biolink:gene_associated_with_condition Orphanet:67038 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:5586 infores:orphanet PMID:22464020|PMID:23637131|PMID:22875913|PMID:21372840 Assessed uuid:9783372d-d8a7-11f1-ae73-e4fade41113c NCBIGene:25913 biolink:gene_associated_with_condition Orphanet:67038 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:17284 infores:orphanet PMID:23502782 Not yet assessed uuid:9783372e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6209 biolink:causes Orphanet:67038 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:10388 infores:orphanet PMID:26466571|PMID:26675346 Assessed uuid:9783372f-d8a7-11f1-ae73-e4fade41113c NCBIGene:22806 biolink:causes Orphanet:67038 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:13178 infores:orphanet PMID:26466571 Assessed uuid:97833730-d8a7-11f1-ae73-e4fade41113c NCBIGene:5027 biolink:gene_associated_with_condition Orphanet:67038 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:8537 infores:orphanet PMID:12493261 Assessed uuid:97833731-d8a7-11f1-ae73-e4fade41113c NCBIGene:80207 biolink:causes Orphanet:67036 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8142 infores:orphanet PMID:15342707 Assessed uuid:97833732-d8a7-11f1-ae73-e4fade41113c NCBIGene:168667 biolink:causes Orphanet:66637 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24154 infores:orphanet PMID:20869035|PMID:21990102 Assessed loss_of_function_variant_form uuid:97833733-d8a7-11f1-ae73-e4fade41113c NCBIGene:131118 biolink:causes Orphanet:66634 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30528 infores:orphanet PMID:16055927 Assessed uuid:97833734-d8a7-11f1-ae73-e4fade41113c NCBIGene:9342 biolink:causes Orphanet:66631 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11133 infores:orphanet PMID:15968592|PMID:21073448 Assessed loss_of_function_variant_form uuid:97833735-d8a7-11f1-ae73-e4fade41113c NCBIGene:26128 biolink:causes Orphanet:66629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23419 infores:orphanet PMID:15883926|PMID:23427148 Assessed loss_of_function_variant_form uuid:97833736-d8a7-11f1-ae73-e4fade41113c NCBIGene:3952 biolink:causes Orphanet:66628 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6553 infores:orphanet PMID:26567097 Assessed uuid:97833737-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:65282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:11063735 Assessed uuid:97833738-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:causes Orphanet:65285 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9588 infores:orphanet PMID:14566704 Assessed loss_of_function_variant_form uuid:97833739-d8a7-11f1-ae73-e4fade41113c NCBIGene:80704 biolink:causes Orphanet:65284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16266 infores:orphanet PMID:24260777 Assessed uuid:9783373a-d8a7-11f1-ae73-e4fade41113c NCBIGene:51733 biolink:causes Orphanet:65287 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16297 infores:orphanet PMID:15385443 Assessed uuid:9783373b-d8a7-11f1-ae73-e4fade41113c NCBIGene:256297 biolink:causes Orphanet:65288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23734 infores:orphanet PMID:15543146|PMID:20301317 Assessed uuid:9783373c-d8a7-11f1-ae73-e4fade41113c NCBIGene:65250 biolink:contributes_to Orphanet:65684 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25801 infores:orphanet PMID:22264561 Assessed uuid:9783373d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57562 biolink:contributes_to Orphanet:65684 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:29264 infores:orphanet PMID:22264561 Assessed uuid:9783373e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7046 biolink:causes Orphanet:65748 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11772 infores:orphanet PMID:21358634 Assessed loss_of_function_variant_form uuid:9783373f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4621 biolink:causes Orphanet:65743 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7573 infores:orphanet PMID:25957469 Assessed uuid:97833740-d8a7-11f1-ae73-e4fade41113c NCBIGene:51715 biolink:causes Orphanet:65759 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14263 infores:orphanet PMID:17503333|PMID:21412941 Assessed loss_of_function_variant_form uuid:97833741-d8a7-11f1-ae73-e4fade41113c NCBIGene:1954 biolink:causes Orphanet:65759 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3233 infores:orphanet PMID:23063620 Assessed uuid:97833742-d8a7-11f1-ae73-e4fade41113c NCBIGene:5376 biolink:causes Orphanet:64748 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9118 infores:orphanet PMID:18698610|PMID:12090401 Assessed uuid:97833743-d8a7-11f1-ae73-e4fade41113c NCBIGene:57716 biolink:causes Orphanet:64748 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13797 infores:orphanet PMID:11133365 Assessed loss_of_function_variant_form uuid:97833744-d8a7-11f1-ae73-e4fade41113c NCBIGene:1959 biolink:causes Orphanet:64748 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3239 infores:orphanet PMID:11523566 Assessed uuid:97833745-d8a7-11f1-ae73-e4fade41113c NCBIGene:4359 biolink:causes Orphanet:64748 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7225 infores:orphanet PMID:8816708|PMID:12242557 Assessed uuid:97833746-d8a7-11f1-ae73-e4fade41113c NCBIGene:9927 biolink:causes Orphanet:64751 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16877 infores:orphanet Assessed uuid:97833747-d8a7-11f1-ae73-e4fade41113c NCBIGene:3162 biolink:causes Orphanet:562509 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5013 infores:orphanet PMID:31216709 Assessed uuid:97833748-d8a7-11f1-ae73-e4fade41113c NCBIGene:4803 biolink:causes Orphanet:64752 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7808 infores:orphanet PMID:14976160 Assessed uuid:97833749-d8a7-11f1-ae73-e4fade41113c NCBIGene:4914 biolink:gene_associated_with_condition Orphanet:64752 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:8031 infores:orphanet PMID:11310631 Not yet assessed uuid:9783374a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23064 biolink:causes Orphanet:64753 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:445 infores:orphanet PMID:20301333|PMID:14770181 Assessed loss_of_function_variant_form uuid:9783374b-d8a7-11f1-ae73-e4fade41113c NCBIGene:23533 biolink:causes Orphanet:64753 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30035 infores:orphanet PMID:22065524 Assessed uuid:9783374c-d8a7-11f1-ae73-e4fade41113c NCBIGene:91754 biolink:causes Orphanet:64754 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:18591 infores:orphanet PMID:27153399 Assessed uuid:9783374d-d8a7-11f1-ae73-e4fade41113c NCBIGene:259232 biolink:causes Orphanet:562528 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19082 infores:orphanet PMID:31410997 Assessed uuid:9783374e-d8a7-11f1-ae73-e4fade41113c NCBIGene:60 biolink:causes Orphanet:64755 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:132 infores:orphanet PMID:28347698 Assessed uuid:9783374f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55084 biolink:causes Orphanet:562559 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29256 infores:orphanet PMID:17618476|PMID:21035105 Assessed uuid:97833750-d8a7-11f1-ae73-e4fade41113c NCBIGene:8991 biolink:causes Orphanet:562538 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10719 infores:orphanet PMID:29255262 Assessed uuid:97833751-d8a7-11f1-ae73-e4fade41113c NCBIGene:9772 biolink:causes Orphanet:562569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:28983 infores:orphanet PMID:30526828 Assessed loss_of_function_variant_form uuid:97833752-d8a7-11f1-ae73-e4fade41113c NCBIGene:2554 biolink:gene_associated_with_condition Orphanet:64280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4075 infores:orphanet PMID:16718694 Not yet assessed uuid:97833753-d8a7-11f1-ae73-e4fade41113c NCBIGene:2566 biolink:gene_associated_with_condition Orphanet:64280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4087 infores:orphanet Not yet assessed uuid:97833754-d8a7-11f1-ae73-e4fade41113c NCBIGene:2562 biolink:contributes_to Orphanet:64280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4083 infores:orphanet PMID:18514161|PMID:20550555 Assessed uuid:97833755-d8a7-11f1-ae73-e4fade41113c NCBIGene:8629 biolink:gene_associated_with_condition Orphanet:64280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6199 infores:orphanet PMID:11463517 Not yet assessed uuid:97833756-d8a7-11f1-ae73-e4fade41113c NCBIGene:8912 biolink:gene_associated_with_condition Orphanet:64280 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1395 infores:orphanet PMID:12891677 Not yet assessed uuid:97833757-d8a7-11f1-ae73-e4fade41113c NCBIGene:2492 biolink:contributes_to Orphanet:64739 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:3969 infores:orphanet PMID:19573286|PMID:18248882 Assessed uuid:97833758-d8a7-11f1-ae73-e4fade41113c NCBIGene:5447 biolink:causes Orphanet:63269 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9208 infores:orphanet PMID:15483095 Assessed loss_of_function_variant_form uuid:97833759-d8a7-11f1-ae73-e4fade41113c NCBIGene:51339 biolink:causes Orphanet:63260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17748 infores:orphanet PMID:22610794 Assessed loss_of_function_variant_form uuid:9783375a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:63442 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4220 infores:orphanet PMID:15173244|PMID:22828428 Assessed loss_of_function_variant_form uuid:9783375b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2318 biolink:causes Orphanet:63273 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3756 infores:orphanet PMID:21620354 Assessed uuid:9783375c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3549 biolink:causes Orphanet:63446 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5956 infores:orphanet PMID:12632327 Assessed uuid:9783375d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:60040 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:22729224 Assessed uuid:9783375e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6337 biolink:causes Orphanet:60033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10599 infores:orphanet PMID:19462466 Assessed uuid:9783375f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6338 biolink:causes Orphanet:60033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10600 infores:orphanet PMID:21658649|PMID:18507830 Assessed uuid:97833760-d8a7-11f1-ae73-e4fade41113c NCBIGene:6340 biolink:causes Orphanet:60033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10602 infores:orphanet PMID:21658649|PMID:18507830 Assessed uuid:97833761-d8a7-11f1-ae73-e4fade41113c NCBIGene:1080 biolink:gene_associated_with_condition Orphanet:60033 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1884 infores:orphanet PMID:23781395|PMID:25797027 Not yet assessed uuid:97833762-d8a7-11f1-ae73-e4fade41113c NCBIGene:9076 biolink:causes Orphanet:59303 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2032 infores:orphanet PMID:15521008 Assessed loss_of_function_variant_form uuid:97833763-d8a7-11f1-ae73-e4fade41113c NCBIGene:7504 biolink:causes Orphanet:59306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12811 infores:orphanet Assessed uuid:97833764-d8a7-11f1-ae73-e4fade41113c NCBIGene:60529 biolink:causes Orphanet:60015 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:450 infores:orphanet PMID:16319823 Assessed loss_of_function_variant_form uuid:97833765-d8a7-11f1-ae73-e4fade41113c NCBIGene:4488 biolink:causes Orphanet:60015 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7392 infores:orphanet PMID:16319823 Assessed loss_of_function_variant_form uuid:97833766-d8a7-11f1-ae73-e4fade41113c NCBIGene:10568 biolink:causes Orphanet:60025 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11020 infores:orphanet PMID:20046000|PMID:23164546 Assessed loss_of_function_variant_form uuid:97833767-d8a7-11f1-ae73-e4fade41113c NCBIGene:476 biolink:causes Orphanet:564178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:799 infores:orphanet PMID:30388404 Assessed uuid:97833768-d8a7-11f1-ae73-e4fade41113c NCBIGene:7042 biolink:causes Orphanet:60030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11768 infores:orphanet PMID:24440784|PMID:25163805|PMID:28544325 Assessed uuid:97833769-d8a7-11f1-ae73-e4fade41113c NCBIGene:7043 biolink:causes Orphanet:60030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11769 infores:orphanet PMID:26184463|PMID:29392890 Assessed uuid:9783376a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7046 biolink:causes Orphanet:60030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11772 infores:orphanet PMID:15731757|PMID:16928994 Assessed uuid:9783376b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7048 biolink:causes Orphanet:60030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11773 infores:orphanet PMID:15731757|PMID:16928994 Assessed uuid:9783376c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4088 biolink:causes Orphanet:60030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6769 infores:orphanet PMID:32935439|PMID:29392890|PMID:31000321 Assessed uuid:9783376d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4087 biolink:causes Orphanet:60030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6768 infores:orphanet PMID:29392890|PMID:31000321 Assessed uuid:9783376e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10526 biolink:causes Orphanet:60030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9853 infores:orphanet PMID:34010605 Assessed loss_of_function_variant_form uuid:9783376f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10653 biolink:causes Orphanet:563708 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11247 infores:orphanet PMID:26358773|PMID:19185281 Assessed loss_of_function_variant_form uuid:97833770-d8a7-11f1-ae73-e4fade41113c NCBIGene:7078 biolink:causes Orphanet:59181 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11822 infores:orphanet PMID:7894485 Assessed uuid:97833771-d8a7-11f1-ae73-e4fade41113c NCBIGene:4625 biolink:causes Orphanet:59135 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7577 infores:orphanet PMID:20301606 Assessed uuid:97833772-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:58017 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:21663470|PMID:24241536 Assessed uuid:97833773-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:gene_associated_with_condition Orphanet:57782 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4392 infores:orphanet PMID:19287459|PMID:22609175 Not yet assessed uuid:97833774-d8a7-11f1-ae73-e4fade41113c NCBIGene:23534 biolink:causes Orphanet:55595 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17103 infores:orphanet PMID:23543484 Assessed uuid:97833775-d8a7-11f1-ae73-e4fade41113c NCBIGene:9987 biolink:causes Orphanet:55596 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5037 infores:orphanet PMID:24647604 Assessed uuid:97833776-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:54595 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:24413733 Assessed uuid:97833777-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:54595 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:2514 infores:orphanet PMID:24413733 Assessed uuid:97833778-d8a7-11f1-ae73-e4fade41113c NCBIGene:1836 biolink:causes Orphanet:56304 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10994 infores:orphanet PMID:20301493 Assessed uuid:97833779-d8a7-11f1-ae73-e4fade41113c NCBIGene:2317 biolink:causes Orphanet:56305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3755 infores:orphanet Assessed uuid:9783377a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4524 biolink:contributes_to Orphanet:563612 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7436 infores:orphanet PMID:31516628 Assessed uuid:9783377b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57216 biolink:contributes_to Orphanet:563612 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15511 infores:orphanet PMID:31516628 Assessed uuid:9783377c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4524 biolink:contributes_to Orphanet:563609 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7436 infores:orphanet PMID:31424828 Assessed uuid:9783377d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57216 biolink:contributes_to Orphanet:563609 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15511 infores:orphanet PMID:31424828 Assessed uuid:9783377e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2131 biolink:gene_associated_with_condition Orphanet:55880 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3512 infores:orphanet Not yet assessed uuid:9783377f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10161 biolink:causes Orphanet:55654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15520 infores:orphanet PMID:18461368 Assessed uuid:97833780-d8a7-11f1-ae73-e4fade41113c NCBIGene:200879 biolink:causes Orphanet:55654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18483 infores:orphanet PMID:18445047 Assessed uuid:97833781-d8a7-11f1-ae73-e4fade41113c NCBIGene:147409 biolink:causes Orphanet:55654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21307 infores:orphanet PMID:16770573 Assessed uuid:97833782-d8a7-11f1-ae73-e4fade41113c NCBIGene:147495 biolink:causes Orphanet:55654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15718 infores:orphanet PMID:20393562 Assessed uuid:97833783-d8a7-11f1-ae73-e4fade41113c NCBIGene:6144 biolink:causes Orphanet:55654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10313 infores:orphanet PMID:21412954 Assessed uuid:97833784-d8a7-11f1-ae73-e4fade41113c NCBIGene:6635 biolink:causes Orphanet:55654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11161 infores:orphanet PMID:23246290 Assessed uuid:97833785-d8a7-11f1-ae73-e4fade41113c NCBIGene:4047 biolink:causes Orphanet:55654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6708 infores:orphanet PMID:30401459 Assessed uuid:97833786-d8a7-11f1-ae73-e4fade41113c NCBIGene:3908 biolink:causes Orphanet:565837 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6482 infores:orphanet PMID:21953594 Assessed uuid:97833787-d8a7-11f1-ae73-e4fade41113c NCBIGene:5530 biolink:causes Orphanet:565858 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9314 infores:orphanet PMID:29432562|PMID:28942967|PMID:30254215|PMID:30455226 Assessed uuid:97833788-d8a7-11f1-ae73-e4fade41113c NCBIGene:7040 biolink:causes Orphanet:565788 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11766 infores:orphanet PMID:29483653 Assessed loss_of_function_variant_form uuid:97833789-d8a7-11f1-ae73-e4fade41113c NCBIGene:825 biolink:causes Orphanet:565909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1480 infores:orphanet PMID:28881388 Assessed uuid:9783378a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3251 biolink:causes Orphanet:79233 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5157 infores:orphanet PMID:10657589|PMID:26073243 Assessed loss_of_function_variant_form uuid:9783378b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57817 biolink:causes Orphanet:79230 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15598 infores:orphanet PMID:20301349 Assessed loss_of_function_variant_form uuid:9783378c-d8a7-11f1-ae73-e4fade41113c NCBIGene:148738 biolink:causes Orphanet:79230 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4887 infores:orphanet PMID:20301349 Assessed loss_of_function_variant_form uuid:9783378d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2584 biolink:causes Orphanet:79237 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4118 infores:orphanet PMID:10521295 Assessed loss_of_function_variant_form uuid:9783378e-d8a7-11f1-ae73-e4fade41113c NCBIGene:54658 biolink:causes Orphanet:79234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12530 infores:orphanet PMID:9039987|PMID:9497253 Assessed loss_of_function_variant_form uuid:9783378f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1053 biolink:causes Orphanet:566067 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1836 infores:orphanet PMID:31201888 Assessed gain_of_function_variant_form uuid:97833790-d8a7-11f1-ae73-e4fade41113c NCBIGene:54658 biolink:causes Orphanet:79235 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12530 infores:orphanet PMID:16456422|PMID:17098698 Assessed loss_of_function_variant_form uuid:97833791-d8a7-11f1-ae73-e4fade41113c NCBIGene:84340 biolink:causes Orphanet:565624 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29682 infores:orphanet PMID:22700954|PMID:26016410|PMID:29075935 Assessed uuid:97833792-d8a7-11f1-ae73-e4fade41113c NCBIGene:57104 biolink:causes Orphanet:565612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30802 infores:orphanet PMID:29539587|PMID:31186072 Assessed uuid:97833793-d8a7-11f1-ae73-e4fade41113c NCBIGene:36 biolink:causes Orphanet:79157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:91 infores:orphanet PMID:20547083 Assessed loss_of_function_variant_form uuid:97833794-d8a7-11f1-ae73-e4fade41113c NCBIGene:8942 biolink:causes Orphanet:79155 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6469 infores:orphanet PMID:17334708 Assessed loss_of_function_variant_form uuid:97833795-d8a7-11f1-ae73-e4fade41113c NCBIGene:55526 biolink:causes Orphanet:79154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23537 infores:orphanet PMID:23141293 Assessed uuid:97833796-d8a7-11f1-ae73-e4fade41113c NCBIGene:4598 biolink:causes Orphanet:79152 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7530 infores:orphanet PMID:22983302|PMID:26202976 Assessed uuid:97833797-d8a7-11f1-ae73-e4fade41113c NCBIGene:63910 biolink:causes Orphanet:79152 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16192 infores:orphanet PMID:25180256 Assessed uuid:97833798-d8a7-11f1-ae73-e4fade41113c NCBIGene:4597 biolink:causes Orphanet:79152 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7529 infores:orphanet PMID:26202976 Assessed uuid:97833799-d8a7-11f1-ae73-e4fade41113c NCBIGene:2224 biolink:causes Orphanet:79152 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3631 infores:orphanet PMID:26202976 Assessed uuid:9783379a-d8a7-11f1-ae73-e4fade41113c NCBIGene:488 biolink:causes Orphanet:79151 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:812 infores:orphanet PMID:12542527 Assessed loss_of_function_variant_form uuid:9783379b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4254 biolink:causes Orphanet:79146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6343 infores:orphanet PMID:19375057 Assessed gain_of_function_variant_form uuid:9783379c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3852 biolink:causes Orphanet:79145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6442 infores:orphanet PMID:16465624 Assessed loss_of_function_variant_form uuid:9783379d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55851 biolink:causes Orphanet:79145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30100 infores:orphanet PMID:28287404 Assessed uuid:9783379e-d8a7-11f1-ae73-e4fade41113c NCBIGene:23509 biolink:causes Orphanet:79145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14988 infores:orphanet PMID:23684010 Assessed uuid:9783379f-d8a7-11f1-ae73-e4fade41113c NCBIGene:56983 biolink:causes Orphanet:79145 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22954 infores:orphanet PMID:24387993 Assessed uuid:978337a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:27034 biolink:causes Orphanet:79159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:87 infores:orphanet PMID:24635911 Assessed loss_of_function_variant_form uuid:978337a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:60 biolink:causes Orphanet:79107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:132 infores:orphanet PMID:16685646 Assessed uuid:978337a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7067 biolink:causes Orphanet:566231 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11796 infores:orphanet PMID:25670821 Assessed uuid:978337a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5745 biolink:causes Orphanet:79106 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9608 infores:orphanet PMID:15525660 Assessed uuid:978337a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7068 biolink:causes Orphanet:566243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11799 infores:orphanet PMID:30976996 Assessed uuid:978337a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:169792 biolink:causes Orphanet:79118 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28510 infores:orphanet PMID:16715098 Assessed uuid:978337a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:566393 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet PMID:25729733|PMID:22324351 Assessed uuid:978337a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:9343 biolink:causes Orphanet:79113 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30858 infores:orphanet PMID:22305528|PMID:24999515 Assessed uuid:978337a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:779 biolink:gene_associated_with_condition Orphanet:79102 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1397 infores:orphanet PMID:15001631 Not yet assessed uuid:978337a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2556 biolink:contributes_to Orphanet:79102 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4077 infores:orphanet PMID:17970773 Assessed uuid:978337aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:100134444 biolink:contributes_to Orphanet:79102 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:39080 infores:orphanet PMID:20074522 Assessed uuid:978337ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:2521 biolink:gene_associated_with_condition Orphanet:79105 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4010 infores:orphanet Assessed uuid:978337ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:64764 biolink:gene_associated_with_condition Orphanet:79105 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:23720 infores:orphanet Assessed uuid:978337ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:90993 biolink:gene_associated_with_condition Orphanet:79105 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:18856 infores:orphanet Assessed uuid:978337ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:8659 biolink:causes Orphanet:79101 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:406 infores:orphanet PMID:9700195 Assessed uuid:978337af-d8a7-11f1-ae73-e4fade41113c NCBIGene:2533 biolink:causes Orphanet:566192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4036 infores:orphanet PMID:25876182 Assessed uuid:978337b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5795 biolink:causes Orphanet:566192 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9673 infores:orphanet PMID:30591527 Assessed uuid:978337b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4035 biolink:causes Orphanet:79100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6692 infores:orphanet PMID:26142438 Assessed loss_of_function_variant_form uuid:978337b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:23600 biolink:causes Orphanet:79095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:451 infores:orphanet PMID:18577977 Assessed uuid:978337b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:55249 biolink:causes Orphanet:79094 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30935 infores:orphanet PMID:27939641 Assessed uuid:978337b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1604 biolink:causes Orphanet:566175 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2665 infores:orphanet PMID:30565236 Assessed uuid:978337b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:55163 biolink:causes Orphanet:79096 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30260 infores:orphanet PMID:15772097 Assessed loss_of_function_variant_form uuid:978337b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6833 biolink:causes Orphanet:79134 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:59 infores:orphanet PMID:22498247|PMID:21109997 Assessed uuid:978337b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3767 biolink:causes Orphanet:79134 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6257 infores:orphanet PMID:22498247|PMID:17652641|PMID:22145471|PMID:23382304|PMID:24150202|PMID:24912436 Assessed gain_of_function_variant_form uuid:978337b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:79731 biolink:causes Orphanet:79134 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26274 infores:orphanet PMID:35703918 Assessed uuid:978337b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3778 biolink:causes Orphanet:79137 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6284 infores:orphanet PMID:15937479 Assessed uuid:978337ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:3431 biolink:causes Orphanet:79124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5401 infores:orphanet PMID:16648851 Assessed uuid:978337bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:566396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet PMID:25729733|PMID:22324351 Assessed uuid:978337bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6609 biolink:causes Orphanet:77293 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11120 infores:orphanet PMID:19405096 Assessed loss_of_function_variant_form uuid:978337bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:11128 biolink:causes Orphanet:77295 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30074 infores:orphanet PMID:21855841|PMID:22855961 Assessed uuid:978337be-d8a7-11f1-ae73-e4fade41113c NCBIGene:2629 biolink:causes Orphanet:77261 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4177 infores:orphanet PMID:20301446 Assessed uuid:978337bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:6609 biolink:causes Orphanet:77292 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11120 infores:orphanet PMID:19405096 Assessed loss_of_function_variant_form uuid:978337c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6657 biolink:causes Orphanet:77298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11195 infores:orphanet PMID:24033328 Assessed uuid:978337c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:9663 biolink:causes Orphanet:77297 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14450 infores:orphanet Assessed uuid:978337c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7155 biolink:causes Orphanet:567502 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11990 infores:orphanet PMID:31409799 Assessed uuid:978337c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:gene_associated_with_condition Orphanet:77301 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9585 infores:orphanet PMID:23169491 Assessed uuid:978337c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5468 biolink:causes Orphanet:79083 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9236 infores:orphanet PMID:12453919|PMID:11788685 Assessed uuid:978337c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5728 biolink:gene_associated_with_condition Orphanet:79076 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9588 infores:orphanet PMID:16685657|PMID:22993021|PMID:23331837 Assessed uuid:978337c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:657 biolink:gene_associated_with_condition Orphanet:79076 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:1076 infores:orphanet PMID:16685657|PMID:22993021|PMID:23331837 Assessed uuid:978337c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:84823 biolink:contributes_to Orphanet:79087 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6638 infores:orphanet PMID:16826530 Assessed uuid:978337c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:208 biolink:causes Orphanet:79085 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:392 infores:orphanet PMID:16409151|PMID:21865368 Assessed uuid:978337c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:gene_associated_with_condition Orphanet:79084 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6636 infores:orphanet PMID:15298354|PMID:18041775 Not yet assessed uuid:978337ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:4620 biolink:causes Orphanet:79091 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7572 infores:orphanet PMID:11114175 Assessed uuid:978337cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:8787 biolink:causes Orphanet:75374 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10004 infores:orphanet PMID:14702087 Assessed uuid:978337cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:388531 biolink:causes Orphanet:75374 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30304 infores:orphanet PMID:14702087 Assessed uuid:978337cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:3075 biolink:causes Orphanet:75376 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4883 infores:orphanet PMID:18252232 Assessed uuid:978337ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:3426 biolink:causes Orphanet:75376 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5394 infores:orphanet PMID:25986072 Assessed uuid:978337cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2202 biolink:causes Orphanet:75376 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3218 infores:orphanet PMID:19850834 Assessed uuid:978337d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:75377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:14557183 Assessed uuid:978337d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2978 biolink:causes Orphanet:75377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4678 infores:orphanet PMID:28125083 Assessed gain_of_function_variant_form uuid:978337d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3000 biolink:causes Orphanet:75377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4689 infores:orphanet PMID:22695961 Assessed uuid:978337d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6295 biolink:causes Orphanet:75382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10521 infores:orphanet PMID:15295660|PMID:22419846 Assessed loss_of_function_variant_form uuid:978337d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6011 biolink:causes Orphanet:75382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10013 infores:orphanet PMID:9020843|PMID:19753316 Assessed loss_of_function_variant_form uuid:978337d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4173 biolink:causes Orphanet:75391 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6947 infores:orphanet PMID:22405088|PMID:22354170 Assessed uuid:978337d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:716 biolink:causes Orphanet:75392 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1247 infores:orphanet PMID:27745832 Assessed gain_of_function_variant_form uuid:978337d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:715 biolink:causes Orphanet:75392 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1246 infores:orphanet PMID:27745832 Assessed gain_of_function_variant_form uuid:978337d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:11285 biolink:causes Orphanet:75496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:930 infores:orphanet PMID:15211654 Assessed uuid:978337d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:75497 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3754 infores:orphanet PMID:27739212 Assessed loss_of_function_variant_form uuid:978337da-d8a7-11f1-ae73-e4fade41113c NCBIGene:212 biolink:causes Orphanet:75563 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:397 infores:orphanet PMID:21309041 Assessed uuid:978337db-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:causes Orphanet:75564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:25941 infores:orphanet PMID:19557078|PMID:19483684 Assessed uuid:978337dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:23451 biolink:causes Orphanet:75564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:10768 infores:orphanet PMID:24507814 Assessed uuid:978337dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:55780 biolink:gene_associated_with_condition Orphanet:75857 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:21056 infores:orphanet PMID:24056535 Assessed uuid:978337de-d8a7-11f1-ae73-e4fade41113c NCBIGene:1291 biolink:causes Orphanet:75840 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2211 infores:orphanet PMID:18366090|PMID:20301676 Assessed uuid:978337df-d8a7-11f1-ae73-e4fade41113c NCBIGene:1292 biolink:causes Orphanet:75840 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2212 infores:orphanet PMID:18366090|PMID:20301676 Assessed uuid:978337e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1293 biolink:causes Orphanet:75840 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2213 infores:orphanet PMID:18366090|PMID:20301676 Assessed uuid:978337e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:1303 biolink:causes Orphanet:75840 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2188 infores:orphanet PMID:24334604 Assessed loss_of_function_variant_form uuid:978337e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:56623 biolink:causes Orphanet:75858 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21474 infores:orphanet PMID:19668215 Assessed uuid:978337e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7227 biolink:causes Orphanet:77258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12340 infores:orphanet Assessed uuid:978337e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2629 biolink:causes Orphanet:77260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4177 infores:orphanet PMID:20301446 Assessed uuid:978337e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2629 biolink:causes Orphanet:77259 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4177 infores:orphanet PMID:20301446 Assessed uuid:978337e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:950 biolink:contributes_to Orphanet:77259 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:1665 infores:orphanet PMID:21796727 Assessed uuid:978337e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7424 biolink:causes Orphanet:569821 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12682 infores:orphanet PMID:30071673 Assessed uuid:978337e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9620 biolink:causes Orphanet:569816 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1850 infores:orphanet PMID:26855770|PMID:31215153 Assessed uuid:978337e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3479 biolink:causes Orphanet:73272 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5464 infores:orphanet PMID:8857020|PMID:14684690 Assessed uuid:978337ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:3480 biolink:causes Orphanet:73273 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5465 infores:orphanet PMID:14657428 Assessed uuid:978337eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1282 biolink:causes Orphanet:75326 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2202 infores:orphanet PMID:25228067 Assessed uuid:978337ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:7137 biolink:causes Orphanet:75249 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11947 infores:orphanet PMID:12531876 Assessed uuid:978337ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:7139 biolink:causes Orphanet:75249 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11949 infores:orphanet PMID:16651346 Assessed uuid:978337ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:2318 biolink:causes Orphanet:75249 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3756 infores:orphanet PMID:26666891 Assessed uuid:978337ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:84665 biolink:causes Orphanet:75249 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23246 infores:orphanet PMID:22286171 Assessed uuid:978337f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:10112 biolink:causes Orphanet:75249 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9787 infores:orphanet PMID:29357359 Assessed loss_of_function_variant_form uuid:978337f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3988 biolink:causes Orphanet:75234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6617 infores:orphanet PMID:22227072|PMID:26225414 Assessed loss_of_function_variant_form uuid:978337f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3988 biolink:causes Orphanet:75233 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6617 infores:orphanet PMID:22227072|PMID:26225414 Assessed loss_of_function_variant_form uuid:978337f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2050 biolink:causes Orphanet:568065 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3395 infores:orphanet PMID:27400125 Assessed uuid:978337f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:861 biolink:causes Orphanet:71290 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10471 infores:orphanet PMID:30600763 Assessed uuid:978337f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:9780 biolink:causes Orphanet:568062 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28993 infores:orphanet PMID:26333996|PMID:33227434 Assessed uuid:978337f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:7066 biolink:causes Orphanet:71493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11795 infores:orphanet Assessed gain_of_function_variant_form uuid:978337f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3717 biolink:causes Orphanet:71493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6192 infores:orphanet PMID:22397670 Assessed gain_of_function_variant_form uuid:978337f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4352 biolink:causes Orphanet:71493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7217 infores:orphanet Assessed uuid:978337f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3207 biolink:causes Orphanet:71289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5101 infores:orphanet PMID:11101832 Assessed uuid:978337fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:2122 biolink:causes Orphanet:71289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3498 infores:orphanet PMID:26581901 Assessed uuid:978337fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:57165 biolink:causes Orphanet:568051 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17494 infores:orphanet PMID:29906362|PMID:20537300 Assessed uuid:978337fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:5443 biolink:causes Orphanet:71526 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9201 infores:orphanet PMID:24354022 Assessed uuid:978337fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5122 biolink:causes Orphanet:71528 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8743 infores:orphanet PMID:9207799|PMID:17595246 Assessed uuid:978337fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:4160 biolink:causes Orphanet:71529 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6932 infores:orphanet PMID:10903343 Assessed uuid:978337ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:2130 biolink:gene_associated_with_condition Orphanet:569164 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3508 infores:orphanet PMID:28114920 Assessed uuid:97833800-d8a7-11f1-ae73-e4fade41113c NCBIGene:1385 biolink:gene_associated_with_condition Orphanet:569164 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2345 infores:orphanet PMID:28114920 Assessed uuid:97833801-d8a7-11f1-ae73-e4fade41113c NCBIGene:478 biolink:causes Orphanet:71517 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:801 infores:orphanet Assessed uuid:97833802-d8a7-11f1-ae73-e4fade41113c NCBIGene:773 biolink:causes Orphanet:71518 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1388 infores:orphanet PMID:12162387 Assessed uuid:97833803-d8a7-11f1-ae73-e4fade41113c NCBIGene:81689 biolink:causes Orphanet:569274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28660 infores:orphanet PMID:28356563 Assessed uuid:97833804-d8a7-11f1-ae73-e4fade41113c NCBIGene:9512 biolink:causes Orphanet:569290 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9119 infores:orphanet PMID:29576218 Assessed uuid:97833805-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:gene_associated_with_condition Orphanet:569248 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2514 infores:orphanet PMID:28551672 Not yet assessed uuid:97833806-d8a7-11f1-ae73-e4fade41113c NCBIGene:1282 biolink:causes Orphanet:73229 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2202 infores:orphanet PMID:18160688|PMID:20301768 Assessed uuid:97833807-d8a7-11f1-ae73-e4fade41113c NCBIGene:58528 biolink:causes Orphanet:73224 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19903 infores:orphanet PMID:34607910 Assessed uuid:97833808-d8a7-11f1-ae73-e4fade41113c NCBIGene:116519 biolink:causes Orphanet:530849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17288 infores:orphanet PMID:25732519|PMID:29980054 Assessed uuid:97833809-d8a7-11f1-ae73-e4fade41113c NCBIGene:23386 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22208 infores:orphanet PMID:38787962 Assessed uuid:9783380a-d8a7-11f1-ae73-e4fade41113c NCBIGene:100 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:186 infores:orphanet Assessed uuid:9783380b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5896 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9831 infores:orphanet Assessed uuid:9783380c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5897 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9832 infores:orphanet Assessed uuid:9783380d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55636 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20626 infores:orphanet Assessed uuid:9783380e-d8a7-11f1-ae73-e4fade41113c NCBIGene:64421 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17642 infores:orphanet Assessed uuid:9783380f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3561 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6010 infores:orphanet Assessed uuid:97833810-d8a7-11f1-ae73-e4fade41113c NCBIGene:6023 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10031 infores:orphanet Assessed uuid:97833811-d8a7-11f1-ae73-e4fade41113c NCBIGene:3575 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6024 infores:orphanet Assessed uuid:97833812-d8a7-11f1-ae73-e4fade41113c NCBIGene:5699 biolink:causes Orphanet:39041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9538 infores:orphanet PMID:38503300 Assessed uuid:97833813-d8a7-11f1-ae73-e4fade41113c NCBIGene:3848 biolink:causes Orphanet:530838 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6412 infores:orphanet PMID:29489036 Assessed uuid:97833814-d8a7-11f1-ae73-e4fade41113c NCBIGene:5970 biolink:gene_associated_with_condition Orphanet:530792 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:9955 infores:orphanet PMID:28895660 Assessed uuid:97833815-d8a7-11f1-ae73-e4fade41113c NCBIGene:65998 biolink:gene_associated_with_condition Orphanet:530792 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:28449 infores:orphanet PMID:28895660 Assessed uuid:97833816-d8a7-11f1-ae73-e4fade41113c NCBIGene:1807 biolink:causes Orphanet:38874 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3013 infores:orphanet PMID:9718352|PMID:20362666 Assessed loss_of_function_variant_form uuid:97833817-d8a7-11f1-ae73-e4fade41113c NCBIGene:5274 biolink:causes Orphanet:530303 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8943 infores:orphanet PMID:12103288 Assessed uuid:97833818-d8a7-11f1-ae73-e4fade41113c NCBIGene:3736 biolink:causes Orphanet:37612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6218 infores:orphanet PMID:20301785 Assessed uuid:97833819-d8a7-11f1-ae73-e4fade41113c NCBIGene:3759 biolink:causes Orphanet:37553 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6263 infores:orphanet PMID:20301441|PMID:16571646 Assessed uuid:9783381a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3762 biolink:causes Orphanet:37553 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6266 infores:orphanet PMID:24574546 Assessed uuid:9783381b-d8a7-11f1-ae73-e4fade41113c NCBIGene:50943 biolink:causes Orphanet:37042 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6106 infores:orphanet PMID:11137993 Assessed uuid:9783381c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8910 biolink:causes Orphanet:36899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10808 infores:orphanet Assessed uuid:9783381d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1861 biolink:gene_associated_with_condition Orphanet:36899 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3098 infores:orphanet Not yet assessed uuid:9783381e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1813 biolink:gene_associated_with_condition Orphanet:36899 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3023 infores:orphanet Not yet assessed uuid:9783381f-d8a7-11f1-ae73-e4fade41113c NCBIGene:79734 biolink:causes Orphanet:36899 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25705 infores:orphanet PMID:25983243 Assessed uuid:97833820-d8a7-11f1-ae73-e4fade41113c NCBIGene:285440 biolink:causes Orphanet:41751 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23198 infores:orphanet PMID:15042513|PMID:21565171|PMID:22497028 Assessed uuid:97833821-d8a7-11f1-ae73-e4fade41113c NCBIGene:340024 biolink:gene_associated_with_condition Orphanet:42062 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:27960 infores:orphanet PMID:19033659 Not yet assessed uuid:97833822-d8a7-11f1-ae73-e4fade41113c NCBIGene:153201 biolink:causes Orphanet:42062 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18762 infores:orphanet PMID:19033659 Assessed uuid:97833823-d8a7-11f1-ae73-e4fade41113c NCBIGene:54716 biolink:gene_associated_with_condition Orphanet:42062 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:30927 infores:orphanet PMID:19033659 Not yet assessed uuid:97833824-d8a7-11f1-ae73-e4fade41113c NCBIGene:348932 biolink:gene_associated_with_condition Orphanet:42062 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:26441 infores:orphanet PMID:19033659 Not yet assessed uuid:97833825-d8a7-11f1-ae73-e4fade41113c NCBIGene:79783 biolink:causes Orphanet:35706 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16001 infores:orphanet PMID:18926513 Assessed uuid:97833826-d8a7-11f1-ae73-e4fade41113c NCBIGene:2628 biolink:causes Orphanet:35704 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4175 infores:orphanet PMID:20301745 Assessed uuid:97833827-d8a7-11f1-ae73-e4fade41113c NCBIGene:6523 biolink:causes Orphanet:35710 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11036 infores:orphanet PMID:8563765|PMID:12139397 Assessed loss_of_function_variant_form uuid:97833828-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:gene_associated_with_condition Orphanet:35737 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:8620 infores:orphanet PMID:12721955 Not yet assessed uuid:97833829-d8a7-11f1-ae73-e4fade41113c NCBIGene:1644 biolink:causes Orphanet:35708 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2719 infores:orphanet PMID:21541720|PMID:24865461 Assessed uuid:9783382a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6687 biolink:causes Orphanet:35689 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11237 infores:orphanet PMID:27123479 Assessed uuid:9783382b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3158 biolink:causes Orphanet:35701 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5008 infores:orphanet PMID:11479731|PMID:23751782 Assessed loss_of_function_variant_form uuid:9783382c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4990 biolink:gene_associated_with_condition Orphanet:35612 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10892 infores:orphanet Not yet assessed uuid:9783382d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7439 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12703 infores:orphanet PMID:19375515 Assessed uuid:9783382e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6657 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11195 infores:orphanet PMID:24033328 Assessed uuid:9783382f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23418 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2343 infores:orphanet PMID:19375515 Assessed uuid:97833830-d8a7-11f1-ae73-e4fade41113c NCBIGene:83552 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18121 infores:orphanet PMID:15976030 Assessed uuid:97833831-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8522 infores:orphanet PMID:24033328 Assessed uuid:97833832-d8a7-11f1-ae73-e4fade41113c NCBIGene:30062 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18662 infores:orphanet PMID:24033328 Assessed uuid:97833833-d8a7-11f1-ae73-e4fade41113c NCBIGene:646960 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:39433 infores:orphanet PMID:21850159 Assessed uuid:97833834-d8a7-11f1-ae73-e4fade41113c NCBIGene:220 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:409 infores:orphanet PMID:23312594 Assessed uuid:97833835-d8a7-11f1-ae73-e4fade41113c NCBIGene:26022 biolink:causes Orphanet:35612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24529 infores:orphanet PMID:24852644 Assessed uuid:97833836-d8a7-11f1-ae73-e4fade41113c NCBIGene:10682 biolink:causes Orphanet:35173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3133 infores:orphanet PMID:21634086 Assessed loss_of_function_variant_form uuid:97833837-d8a7-11f1-ae73-e4fade41113c NCBIGene:5832 biolink:causes Orphanet:35664 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9722 infores:orphanet PMID:21739576 Assessed uuid:97833838-d8a7-11f1-ae73-e4fade41113c NCBIGene:51251 biolink:causes Orphanet:35120 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17820 infores:orphanet PMID:11369620|PMID:12714505 Assessed uuid:97833839-d8a7-11f1-ae73-e4fade41113c NCBIGene:1718 biolink:causes Orphanet:35107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2859 infores:orphanet PMID:21671375 Assessed uuid:9783383a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7291 biolink:causes Orphanet:35099 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12428 infores:orphanet PMID:17343269 Assessed uuid:9783383b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7545 biolink:causes Orphanet:35099 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:12872 infores:orphanet PMID:26340333 Assessed gain_of_function_variant_form uuid:9783383c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:35099 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3690 infores:orphanet PMID:10914960 Assessed uuid:9783383d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6938 biolink:causes Orphanet:35099 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11623 infores:orphanet PMID:23354436 Assessed loss_of_function_variant_form uuid:9783383e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6476 biolink:causes Orphanet:35122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10856 infores:orphanet Assessed uuid:9783383f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6323 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10585 infores:orphanet PMID:20301494 Assessed uuid:97833840-d8a7-11f1-ae73-e4fade41113c NCBIGene:6324 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10586 infores:orphanet Assessed uuid:97833841-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:gene_associated_with_condition Orphanet:36387 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10588 infores:orphanet Not yet assessed uuid:97833842-d8a7-11f1-ae73-e4fade41113c NCBIGene:6335 biolink:gene_associated_with_condition Orphanet:36387 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10597 infores:orphanet Not yet assessed uuid:97833843-d8a7-11f1-ae73-e4fade41113c NCBIGene:57094 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17245 infores:orphanet PMID:21922598 Assessed loss_of_function_variant_form uuid:97833844-d8a7-11f1-ae73-e4fade41113c NCBIGene:2563 biolink:gene_associated_with_condition Orphanet:36387 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4084 infores:orphanet Not yet assessed uuid:97833845-d8a7-11f1-ae73-e4fade41113c NCBIGene:2566 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4087 infores:orphanet Assessed uuid:97833846-d8a7-11f1-ae73-e4fade41113c NCBIGene:84059 biolink:gene_associated_with_condition Orphanet:36387 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:17416 infores:orphanet PMID:12402266 Not yet assessed uuid:97833847-d8a7-11f1-ae73-e4fade41113c NCBIGene:112476 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30500 infores:orphanet PMID:25522171 Assessed uuid:97833848-d8a7-11f1-ae73-e4fade41113c NCBIGene:348980 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4845 infores:orphanet PMID:30351409 Assessed uuid:97833849-d8a7-11f1-ae73-e4fade41113c NCBIGene:112755 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18539 infores:orphanet PMID:25362483 Assessed uuid:9783384a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2258 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3670 infores:orphanet PMID:33245860|PMID:26063919 Assessed uuid:9783384b-d8a7-11f1-ae73-e4fade41113c NCBIGene:140679 biolink:causes Orphanet:36387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11018 infores:orphanet PMID:34038384 Assessed uuid:9783384c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1776 biolink:causes Orphanet:36412 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2959 infores:orphanet PMID:23666765 Assessed loss_of_function_variant_form uuid:9783384d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3106 biolink:gene_associated_with_condition Orphanet:36426 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4932 infores:orphanet Not yet assessed uuid:9783384e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10320 biolink:contributes_to Orphanet:36426 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:13176 infores:orphanet PMID:25672763 Assessed uuid:9783384f-d8a7-11f1-ae73-e4fade41113c NCBIGene:64805 biolink:causes Orphanet:36355 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18124 infores:orphanet PMID:11196645|PMID:12578987 Assessed uuid:97833850-d8a7-11f1-ae73-e4fade41113c NCBIGene:10472 biolink:gene_associated_with_condition Orphanet:36367 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:13030 infores:orphanet PMID:28283832|PMID:24193349 Assessed uuid:97833851-d8a7-11f1-ae73-e4fade41113c NCBIGene:1282 biolink:causes Orphanet:36383 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2202 infores:orphanet PMID:23065703 Assessed uuid:97833852-d8a7-11f1-ae73-e4fade41113c NCBIGene:1284 biolink:causes Orphanet:36383 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2203 infores:orphanet PMID:24390199|PMID:36324412 Assessed uuid:97833853-d8a7-11f1-ae73-e4fade41113c NCBIGene:51062 biolink:causes Orphanet:36386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11231 infores:orphanet PMID:21194679 Assessed uuid:97833854-d8a7-11f1-ae73-e4fade41113c NCBIGene:10558 biolink:causes Orphanet:36386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11277 infores:orphanet PMID:11242114 Assessed uuid:97833855-d8a7-11f1-ae73-e4fade41113c NCBIGene:9517 biolink:causes Orphanet:36386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11278 infores:orphanet PMID:20920666 Assessed uuid:97833856-d8a7-11f1-ae73-e4fade41113c NCBIGene:25923 biolink:causes Orphanet:36386 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24526 infores:orphanet PMID:24459106 Assessed uuid:97833857-d8a7-11f1-ae73-e4fade41113c NCBIGene:2746 biolink:causes Orphanet:35878 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4335 infores:orphanet PMID:9571255|PMID:20936362|PMID:25733449 Assessed uuid:97833858-d8a7-11f1-ae73-e4fade41113c NCBIGene:8029 biolink:causes Orphanet:35858 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2548 infores:orphanet PMID:10080186 Assessed uuid:97833859-d8a7-11f1-ae73-e4fade41113c NCBIGene:81693 biolink:causes Orphanet:35858 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14604 infores:orphanet PMID:21750092|PMID:26040326 Assessed uuid:9783385a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3998 biolink:causes Orphanet:35909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6631 infores:orphanet PMID:9546392|PMID:16304051 Assessed loss_of_function_variant_form uuid:9783385b-d8a7-11f1-ae73-e4fade41113c NCBIGene:90411 biolink:causes Orphanet:35909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18451 infores:orphanet PMID:12717434|PMID:16304051 Assessed uuid:9783385c-d8a7-11f1-ae73-e4fade41113c NCBIGene:26873 biolink:causes Orphanet:33572 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8149 infores:orphanet PMID:21651516|PMID:27477828 Assessed uuid:9783385d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9881 biolink:contributes_to Orphanet:33543 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:29011 infores:orphanet PMID:33737391 Assessed uuid:9783385e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4644 biolink:causes Orphanet:33445 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7602 infores:orphanet Assessed uuid:9783385f-d8a7-11f1-ae73-e4fade41113c NCBIGene:338328 biolink:causes Orphanet:535458 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24945 infores:orphanet PMID:25732519|PMID:29980054 Assessed uuid:97833860-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:gene_associated_with_condition Orphanet:33402 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2514 infores:orphanet PMID:9927029 Not yet assessed uuid:97833861-d8a7-11f1-ae73-e4fade41113c NCBIGene:4233 biolink:causes Orphanet:33402 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7029 infores:orphanet PMID:9927037 Assessed uuid:97833862-d8a7-11f1-ae73-e4fade41113c NCBIGene:3728 biolink:causes Orphanet:34217 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6207 infores:orphanet PMID:20301310 Assessed uuid:97833863-d8a7-11f1-ae73-e4fade41113c NCBIGene:2729 biolink:causes Orphanet:33574 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4311 infores:orphanet PMID:10515893|PMID:18024385 Assessed uuid:97833864-d8a7-11f1-ae73-e4fade41113c NCBIGene:2678 biolink:causes Orphanet:33573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4250 infores:orphanet PMID:29483667 Assessed uuid:97833865-d8a7-11f1-ae73-e4fade41113c NCBIGene:3507 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5541 infores:orphanet PMID:8890099 Assessed uuid:97833866-d8a7-11f1-ae73-e4fade41113c NCBIGene:3543 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5870 infores:orphanet PMID:9419212 Assessed uuid:97833867-d8a7-11f1-ae73-e4fade41113c NCBIGene:56262 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19027 infores:orphanet PMID:14660746 Assessed uuid:97833868-d8a7-11f1-ae73-e4fade41113c NCBIGene:6929 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11633 infores:orphanet PMID:24216514 Assessed uuid:97833869-d8a7-11f1-ae73-e4fade41113c NCBIGene:973 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1698 infores:orphanet PMID:11920841 Assessed uuid:9783386a-d8a7-11f1-ae73-e4fade41113c NCBIGene:974 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1699 infores:orphanet PMID:17709424|PMID:17675462 Assessed uuid:9783386b-d8a7-11f1-ae73-e4fade41113c NCBIGene:29760 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14211 infores:orphanet PMID:10583958 Assessed uuid:9783386c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5295 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8979 infores:orphanet PMID:22351933 Assessed uuid:9783386d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5293 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8977 infores:orphanet PMID:22351933 Assessed uuid:9783386e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6688 biolink:causes Orphanet:33110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11241 infores:orphanet PMID:33951726 Assessed uuid:9783386f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5913 biolink:gene_associated_with_condition Orphanet:33108 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9863 infores:orphanet Not yet assessed uuid:97833870-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:33108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:26932181 Assessed uuid:97833871-d8a7-11f1-ae73-e4fade41113c NCBIGene:1134 biolink:causes Orphanet:33108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1955 infores:orphanet PMID:18252226 Assessed uuid:97833872-d8a7-11f1-ae73-e4fade41113c NCBIGene:1144 biolink:causes Orphanet:33108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1965 infores:orphanet PMID:18252226 Assessed uuid:97833873-d8a7-11f1-ae73-e4fade41113c NCBIGene:1146 biolink:causes Orphanet:33108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1967 infores:orphanet PMID:16826531 Assessed uuid:97833874-d8a7-11f1-ae73-e4fade41113c NCBIGene:4703 biolink:causes Orphanet:33108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7720 infores:orphanet PMID:28336317 Assessed uuid:97833875-d8a7-11f1-ae73-e4fade41113c NCBIGene:5745 biolink:causes Orphanet:33067 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9608 infores:orphanet PMID:7701349|PMID:8703170 Assessed gain_of_function_variant_form uuid:97833876-d8a7-11f1-ae73-e4fade41113c NCBIGene:6323 biolink:causes Orphanet:33069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10585 infores:orphanet PMID:20301494|PMID:23093055|PMID:21463275|PMID:22787626|PMID:11359211|PMID:12754708|PMID:16458823 Assessed uuid:97833877-d8a7-11f1-ae73-e4fade41113c NCBIGene:6324 biolink:causes Orphanet:33069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10586 infores:orphanet PMID:19710327|PMID:23148524|PMID:23093055|PMID:21463275|PMID:22787626 Assessed loss_of_function_variant_form uuid:97833878-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:causes Orphanet:33069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10588 infores:orphanet PMID:19783390 Assessed uuid:97833879-d8a7-11f1-ae73-e4fade41113c NCBIGene:6335 biolink:gene_associated_with_condition Orphanet:33069 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10597 infores:orphanet PMID:19763161|PMID:23895530|PMID:21463275|PMID:18755274 Not yet assessed uuid:9783387a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2554 biolink:causes Orphanet:33069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4075 infores:orphanet PMID:24623842 Assessed uuid:9783387b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2566 biolink:causes Orphanet:33069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4087 infores:orphanet PMID:11748509|PMID:23093055|PMID:21463275|PMID:22787626 Assessed uuid:9783387c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57526 biolink:causes Orphanet:33069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14270 infores:orphanet PMID:19214208|PMID:22848613|PMID:23808377|PMID:23093055|PMID:21463275 Assessed uuid:9783387d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2303 biolink:causes Orphanet:33001 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3801 infores:orphanet PMID:12383817|PMID:20301630 Assessed uuid:9783387e-d8a7-11f1-ae73-e4fade41113c NCBIGene:204 biolink:causes Orphanet:33355 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:362 infores:orphanet PMID:19043416 Assessed loss_of_function_variant_form uuid:9783387f-d8a7-11f1-ae73-e4fade41113c NCBIGene:64788 biolink:causes Orphanet:535453 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14154 infores:orphanet PMID:25732519|PMID:29980054 Assessed uuid:97833880-d8a7-11f1-ae73-e4fade41113c NCBIGene:51163 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15594 infores:orphanet PMID:40683339 Assessed uuid:97833881-d8a7-11f1-ae73-e4fade41113c NCBIGene:136647 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16002 infores:orphanet Assessed uuid:97833882-d8a7-11f1-ae73-e4fade41113c NCBIGene:2068 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3434 infores:orphanet PMID:12393803 Assessed uuid:97833883-d8a7-11f1-ae73-e4fade41113c NCBIGene:404672 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21157 infores:orphanet PMID:12393803 Assessed uuid:97833884-d8a7-11f1-ae73-e4fade41113c NCBIGene:2071 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3435 infores:orphanet PMID:12393803 Assessed uuid:97833885-d8a7-11f1-ae73-e4fade41113c NCBIGene:16 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20 infores:orphanet PMID:33909043 Assessed uuid:97833886-d8a7-11f1-ae73-e4fade41113c NCBIGene:833 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1493 infores:orphanet PMID:30824121 Assessed uuid:97833887-d8a7-11f1-ae73-e4fade41113c NCBIGene:7737 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12974 infores:orphanet PMID:25612912 Assessed uuid:97833888-d8a7-11f1-ae73-e4fade41113c NCBIGene:2961 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4651 infores:orphanet PMID:26996949 Assessed uuid:97833889-d8a7-11f1-ae73-e4fade41113c NCBIGene:6897 biolink:causes Orphanet:33364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11572 infores:orphanet PMID:31374204 Assessed uuid:9783388a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4615 biolink:causes Orphanet:33226 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7562 infores:orphanet PMID:23321251|PMID:23532735 Assessed uuid:9783388b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8398 biolink:causes Orphanet:35069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9039 infores:orphanet Assessed uuid:9783388c-d8a7-11f1-ae73-e4fade41113c NCBIGene:60529 biolink:contributes_to Orphanet:35093 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:450 infores:orphanet PMID:22829454 Assessed uuid:9783388d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7291 biolink:causes Orphanet:35093 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12428 infores:orphanet PMID:17343269 Assessed uuid:9783388e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3718 biolink:causes Orphanet:35078 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6193 infores:orphanet Assessed uuid:9783388f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3679 biolink:causes Orphanet:34520 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6143 infores:orphanet PMID:9590299 Assessed uuid:97833890-d8a7-11f1-ae73-e4fade41113c NCBIGene:8557 biolink:causes Orphanet:34514 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11610 infores:orphanet PMID:20301582 Assessed uuid:97833891-d8a7-11f1-ae73-e4fade41113c NCBIGene:79147 biolink:causes Orphanet:34515 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17997 infores:orphanet PMID:20301582 Assessed uuid:97833892-d8a7-11f1-ae73-e4fade41113c NCBIGene:10049 biolink:causes Orphanet:34516 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14888 infores:orphanet PMID:22366786|PMID:22334415 Assessed uuid:97833893-d8a7-11f1-ae73-e4fade41113c NCBIGene:3920 biolink:causes Orphanet:34587 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6501 infores:orphanet Assessed uuid:97833894-d8a7-11f1-ae73-e4fade41113c NCBIGene:6891 biolink:causes Orphanet:34592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:44 infores:orphanet PMID:10560675 Assessed uuid:97833895-d8a7-11f1-ae73-e4fade41113c NCBIGene:6890 biolink:causes Orphanet:34592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:43 infores:orphanet PMID:10074494 Assessed uuid:97833896-d8a7-11f1-ae73-e4fade41113c NCBIGene:6892 biolink:causes Orphanet:34592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11566 infores:orphanet PMID:12149238 Assessed uuid:97833897-d8a7-11f1-ae73-e4fade41113c NCBIGene:567 biolink:causes Orphanet:34592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:914 infores:orphanet PMID:25702838 Assessed loss_of_function_variant_form uuid:97833898-d8a7-11f1-ae73-e4fade41113c NCBIGene:486 biolink:causes Orphanet:34528 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4026 infores:orphanet PMID:17980699 Assessed uuid:97833899-d8a7-11f1-ae73-e4fade41113c NCBIGene:1303 biolink:causes Orphanet:536516 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2188 infores:orphanet PMID:28306229|PMID:28306225 Assessed uuid:9783389a-d8a7-11f1-ae73-e4fade41113c NCBIGene:126792 biolink:causes Orphanet:536467 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17978 infores:orphanet PMID:23664117 Assessed loss_of_function_variant_form uuid:9783389b-d8a7-11f1-ae73-e4fade41113c NCBIGene:165 biolink:causes Orphanet:536532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:303 infores:orphanet PMID:30759870 Assessed loss_of_function_variant_form uuid:9783389c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5340 biolink:causes Orphanet:537072 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9071 infores:orphanet PMID:28795768 Assessed uuid:9783389d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7132 biolink:causes Orphanet:32960 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11916 infores:orphanet PMID:22059991 Assessed uuid:9783389e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2811 biolink:causes Orphanet:52530 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4439 infores:orphanet PMID:2052556 Assessed uuid:9783389f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:contributes_to Orphanet:52688 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11998 infores:orphanet PMID:32747829 Assessed uuid:978338a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6495 biolink:causes Orphanet:52429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10887 infores:orphanet PMID:15141091 Assessed uuid:978338a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2138 biolink:causes Orphanet:52429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3519 infores:orphanet PMID:9359046|PMID:23840632 Assessed uuid:978338a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6535 biolink:causes Orphanet:52503 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11055 infores:orphanet PMID:20301745 Assessed uuid:978338a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7415 biolink:causes Orphanet:52430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12666 infores:orphanet PMID:15034582|PMID:20301649 Assessed uuid:978338a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3181 biolink:causes Orphanet:52430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5033 infores:orphanet PMID:23455423 Assessed uuid:978338a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3178 biolink:causes Orphanet:52430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5031 infores:orphanet PMID:23455423 Assessed uuid:978338a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:595 biolink:causes Orphanet:52416 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1582 infores:orphanet Assessed uuid:978338a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:472 biolink:causes Orphanet:52416 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:795 infores:orphanet PMID:10706620 Assessed uuid:978338a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3492 biolink:causes Orphanet:52416 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5477 infores:orphanet PMID:12601901|PMID:11245476 Assessed uuid:978338a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:52427 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:8485575 Assessed uuid:978338aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:5959 biolink:gene_associated_with_condition Orphanet:52427 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9940 infores:orphanet Not yet assessed uuid:978338ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:6010 biolink:gene_associated_with_condition Orphanet:52427 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10012 infores:orphanet PMID:8554077 Not yet assessed uuid:978338ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:6017 biolink:causes Orphanet:52427 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10024 infores:orphanet PMID:10102299|PMID:15234312|PMID:15953459 Assessed uuid:978338ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:10892 biolink:gene_associated_with_condition Orphanet:52417 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:6819 infores:orphanet Assessed uuid:978338ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:330 biolink:gene_associated_with_condition Orphanet:52417 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:591 infores:orphanet Assessed uuid:978338af-d8a7-11f1-ae73-e4fade41113c NCBIGene:3492 biolink:gene_associated_with_condition Orphanet:52417 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:5477 infores:orphanet PMID:15703784 Assessed uuid:978338b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:27086 biolink:gene_associated_with_condition Orphanet:52417 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3823 infores:orphanet PMID:15703784 Assessed uuid:978338b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8915 biolink:gene_associated_with_condition Orphanet:52417 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:989 infores:orphanet PMID:25922601|PMID:10319863 Assessed uuid:978338b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3476 biolink:causes Orphanet:52055 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5461 infores:orphanet PMID:14556245 Assessed uuid:978338b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1678 biolink:causes Orphanet:52368 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11817 infores:orphanet PMID:20301395|PMID:11956200 Assessed loss_of_function_variant_form uuid:978338b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:53271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3690 infores:orphanet PMID:20301588|PMID:20301628|PMID:21438135 Assessed uuid:978338b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:487 biolink:causes Orphanet:53347 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:811 infores:orphanet PMID:10914677 Assessed loss_of_function_variant_form uuid:978338b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5314 biolink:causes Orphanet:53035 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9016 infores:orphanet PMID:24710345|PMID:26385851 Assessed uuid:978338b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2488 biolink:causes Orphanet:52901 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3964 infores:orphanet PMID:15705395 Assessed loss_of_function_variant_form uuid:978338b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3938 biolink:causes Orphanet:53690 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6530 infores:orphanet PMID:16400612 Assessed uuid:978338b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1811 biolink:causes Orphanet:53689 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3018 infores:orphanet PMID:11524734|PMID:21394828 Assessed loss_of_function_variant_form uuid:978338ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:5777 biolink:causes Orphanet:538863 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9658 infores:orphanet PMID:21406173 Assessed uuid:978338bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3848 biolink:contributes_to Orphanet:538574 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:6412 infores:orphanet PMID:27639257 Assessed uuid:978338bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:4359 biolink:contributes_to Orphanet:538574 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:7225 infores:orphanet PMID:27639257 Assessed uuid:978338bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6513 biolink:causes Orphanet:53583 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11005 infores:orphanet PMID:21832227 Assessed uuid:978338be-d8a7-11f1-ae73-e4fade41113c NCBIGene:10002 biolink:causes Orphanet:53540 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7974 infores:orphanet PMID:10655056 Assessed uuid:978338bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:6872 biolink:causes Orphanet:53351 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11535 infores:orphanet Assessed uuid:978338c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:70 biolink:contributes_to Orphanet:54260 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:143 infores:orphanet PMID:17611253|PMID:18506004 Assessed uuid:978338c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5318 biolink:causes Orphanet:54260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9024 infores:orphanet PMID:27030002 Assessed uuid:978338c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7139 biolink:causes Orphanet:54260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11949 infores:orphanet PMID:20083571 Assessed uuid:978338c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7168 biolink:causes Orphanet:54260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12010 infores:orphanet PMID:21551322 Assessed uuid:978338c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1837 biolink:gene_associated_with_condition Orphanet:54260 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3057 infores:orphanet PMID:11238270 Not yet assessed uuid:978338c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:11155 biolink:gene_associated_with_condition Orphanet:54260 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15710 infores:orphanet Not yet assessed uuid:978338c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:gene_associated_with_condition Orphanet:54260 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6636 infores:orphanet Not yet assessed uuid:978338c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4607 biolink:gene_associated_with_condition Orphanet:54260 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7551 infores:orphanet PMID:21551322 Not yet assessed uuid:978338c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4625 biolink:causes Orphanet:54260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7577 infores:orphanet PMID:25415959 Assessed uuid:978338c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:57057 biolink:causes Orphanet:54260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11598 infores:orphanet PMID:37657916 Assessed uuid:978338ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:57534 biolink:causes Orphanet:54260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21086 infores:orphanet PMID:23314057 Assessed loss_of_function_variant_form uuid:978338cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:63976 biolink:causes Orphanet:54260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14000 infores:orphanet PMID:23768516 Assessed uuid:978338cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:57644 biolink:causes Orphanet:54260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15906 infores:orphanet PMID:23800289 Assessed uuid:978338cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:142678 biolink:contributes_to Orphanet:54260 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:30577 infores:orphanet PMID:28013292 Assessed uuid:978338ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:23207 biolink:contributes_to Orphanet:54260 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:29131 infores:orphanet PMID:26464484 Assessed uuid:978338cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:331 biolink:causes Orphanet:538934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:592 infores:orphanet PMID:20301580 Assessed uuid:978338d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4068 biolink:causes Orphanet:538931 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10820 infores:orphanet PMID:20301580|PMID:28196537 Assessed uuid:978338d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2733 biolink:causes Orphanet:53696 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4315 infores:orphanet PMID:18204449 Assessed uuid:978338d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5777 biolink:causes Orphanet:538872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9658 infores:orphanet PMID:21406173 Assessed uuid:978338d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:203859 biolink:causes Orphanet:53697 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27337 infores:orphanet PMID:23047743 Assessed uuid:978338d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:11081 biolink:causes Orphanet:53691 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6309 infores:orphanet PMID:10802664 Assessed loss_of_function_variant_form uuid:978338d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5777 biolink:causes Orphanet:538869 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9658 infores:orphanet PMID:21406173 Assessed uuid:978338d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5777 biolink:causes Orphanet:538866 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9658 infores:orphanet PMID:21406173 Assessed uuid:978338d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:617 biolink:causes Orphanet:53693 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1020 infores:orphanet PMID:12215968 Assessed uuid:978338d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1356 biolink:causes Orphanet:48818 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2295 infores:orphanet PMID:20301666 Assessed loss_of_function_variant_form uuid:978338d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6103 biolink:gene_associated_with_condition Orphanet:49382 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10295 infores:orphanet Not yet assessed uuid:978338da-d8a7-11f1-ae73-e4fade41113c NCBIGene:1261 biolink:causes Orphanet:49382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2150 infores:orphanet Assessed uuid:978338db-d8a7-11f1-ae73-e4fade41113c NCBIGene:54714 biolink:causes Orphanet:49382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2153 infores:orphanet Assessed uuid:978338dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2780 biolink:causes Orphanet:49382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4394 infores:orphanet PMID:12077706 Assessed uuid:978338dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5149 biolink:causes Orphanet:49382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8790 infores:orphanet Assessed uuid:978338de-d8a7-11f1-ae73-e4fade41113c NCBIGene:5146 biolink:causes Orphanet:49382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8787 infores:orphanet PMID:19615668 Assessed uuid:978338df-d8a7-11f1-ae73-e4fade41113c NCBIGene:22926 biolink:causes Orphanet:49382 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:791 infores:orphanet PMID:26029869|PMID:26063662 Assessed loss_of_function_variant_form uuid:978338e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:9150 biolink:causes Orphanet:48431 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2498 infores:orphanet PMID:20301787 Assessed loss_of_function_variant_form uuid:978338e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:970 biolink:causes Orphanet:538958 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11937 infores:orphanet PMID:28011863|PMID:28011864|PMID:29434583 Assessed uuid:978338e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3702 biolink:causes Orphanet:538963 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6171 infores:orphanet PMID:19425169 Assessed uuid:978338e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:10484 biolink:causes Orphanet:50814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10701 infores:orphanet PMID:16980979 Assessed loss_of_function_variant_form uuid:978338e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:10560 biolink:causes Orphanet:49827 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10938 infores:orphanet Assessed uuid:978338e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:50251 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:950 infores:orphanet PMID:27181379 Assessed uuid:978338e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5745 biolink:causes Orphanet:50945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9608 infores:orphanet PMID:9832466|PMID:9745456|PMID:9649554 Assessed uuid:978338e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:80326 biolink:causes Orphanet:50944 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13829 infores:orphanet PMID:19559398 Assessed uuid:978338e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3757 biolink:causes Orphanet:51083 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6251 infores:orphanet PMID:15828882 Assessed gain_of_function_variant_form uuid:978338e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3759 biolink:causes Orphanet:51083 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6263 infores:orphanet PMID:15761194 Assessed gain_of_function_variant_form uuid:978338ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:3784 biolink:causes Orphanet:51083 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6294 infores:orphanet PMID:15159330|PMID:26346102 Assessed gain_of_function_variant_form uuid:978338eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6508 biolink:causes Orphanet:51083 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11029 infores:orphanet PMID:29167417 Assessed loss_of_function_variant_form uuid:978338ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:781 biolink:gene_associated_with_condition Orphanet:51083 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1399 infores:orphanet PMID:21383000 Not yet assessed uuid:978338ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:1508 biolink:gene_associated_with_condition Orphanet:50943 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2527 infores:orphanet PMID:28457472 Assessed uuid:978338ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:1828 biolink:causes Orphanet:50942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3048 infores:orphanet PMID:10332028|PMID:19157795 Assessed uuid:978338ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:1832 biolink:causes Orphanet:50942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3052 infores:orphanet PMID:9887343 Assessed uuid:978338f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3848 biolink:causes Orphanet:50942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6412 infores:orphanet PMID:11982762 Assessed uuid:978338f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:60529 biolink:gene_associated_with_condition Orphanet:52022 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:450 infores:orphanet PMID:15852040 Assessed uuid:978338f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2132 biolink:gene_associated_with_condition Orphanet:52022 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3513 infores:orphanet PMID:15852040 Assessed uuid:978338f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:51317 biolink:gene_associated_with_condition Orphanet:52022 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:24156 infores:orphanet PMID:22770980 Assessed uuid:978338f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:368 biolink:causes Orphanet:51608 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:57 infores:orphanet PMID:25392903|PMID:22209248 Assessed uuid:978338f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5167 biolink:causes Orphanet:51608 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3356 infores:orphanet PMID:25392903 Assessed loss_of_function_variant_form uuid:978338f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:23474 biolink:causes Orphanet:51188 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23287 infores:orphanet PMID:18593870 Assessed uuid:978338f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3376 biolink:causes Orphanet:541423 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5330 infores:orphanet PMID:27426735|PMID:29052218 Assessed uuid:978338f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:10841 biolink:causes Orphanet:51208 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3974 infores:orphanet PMID:12815595 Assessed uuid:978338f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7852 biolink:causes Orphanet:51636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2561 infores:orphanet PMID:12692554 Assessed gain_of_function_variant_form uuid:978338fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:10681 biolink:causes Orphanet:542306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4401 infores:orphanet PMID:27523599|PMID:30631341 Assessed uuid:978338fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:146206 biolink:causes Orphanet:542301 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27089 infores:orphanet PMID:29226302|PMID:27896283 Assessed uuid:978338fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:727676 biolink:causes Orphanet:542310 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32952 infores:orphanet PMID:28177126|PMID:27571260 Assessed uuid:978338fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:4286 biolink:causes Orphanet:42665 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7105 infores:orphanet PMID:10851256 Assessed uuid:978338fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:2232 biolink:causes Orphanet:542585 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3642 infores:orphanet PMID:28965846 Assessed uuid:978338ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:23479 biolink:causes Orphanet:43115 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29882 infores:orphanet PMID:20301757 Assessed uuid:97833900-d8a7-11f1-ae73-e4fade41113c NCBIGene:8291 biolink:causes Orphanet:45448 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3097 infores:orphanet PMID:18853459 Assessed uuid:97833901-d8a7-11f1-ae73-e4fade41113c NCBIGene:2232 biolink:causes Orphanet:543470 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3642 infores:orphanet PMID:29040572 Assessed uuid:97833902-d8a7-11f1-ae73-e4fade41113c NCBIGene:771 biolink:causes Orphanet:542657 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1371 infores:orphanet PMID:21035102 Assessed uuid:97833903-d8a7-11f1-ae73-e4fade41113c NCBIGene:6389 biolink:causes Orphanet:44890 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10680 infores:orphanet PMID:23730622|PMID:23282968|PMID:21505157|PMID:21997697 Assessed loss_of_function_variant_form uuid:97833904-d8a7-11f1-ae73-e4fade41113c NCBIGene:6390 biolink:gene_associated_with_condition Orphanet:44890 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10681 infores:orphanet PMID:21173220 Not yet assessed uuid:97833905-d8a7-11f1-ae73-e4fade41113c NCBIGene:6391 biolink:gene_associated_with_condition Orphanet:44890 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10682 infores:orphanet PMID:21173220 Not yet assessed uuid:97833906-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:44890 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6342 infores:orphanet PMID:23730622 Assessed uuid:97833907-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:44890 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6342 infores:orphanet PMID:11073817 Assessed gain_of_function_variant_form uuid:97833908-d8a7-11f1-ae73-e4fade41113c NCBIGene:5156 biolink:causes Orphanet:44890 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8803 infores:orphanet PMID:33737510 Assessed uuid:97833909-d8a7-11f1-ae73-e4fade41113c NCBIGene:5156 biolink:causes Orphanet:44890 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8803 infores:orphanet PMID:23730622 Assessed uuid:9783390a-d8a7-11f1-ae73-e4fade41113c NCBIGene:401 biolink:causes Orphanet:45358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:691 infores:orphanet PMID:20301522 Assessed uuid:9783390b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55605 biolink:causes Orphanet:45358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19349 infores:orphanet PMID:20301522 Assessed uuid:9783390c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7846 biolink:causes Orphanet:45358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20766 infores:orphanet PMID:33649541 Assessed uuid:9783390d-d8a7-11f1-ae73-e4fade41113c NCBIGene:347733 biolink:causes Orphanet:45358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30829 infores:orphanet PMID:23001566 Assessed uuid:9783390e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10381 biolink:causes Orphanet:45358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20772 infores:orphanet PMID:20301522 Assessed uuid:9783390f-d8a7-11f1-ae73-e4fade41113c NCBIGene:84570 biolink:causes Orphanet:45358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18603 infores:orphanet PMID:25500261 Assessed uuid:97833910-d8a7-11f1-ae73-e4fade41113c NCBIGene:8831 biolink:causes Orphanet:544254 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11497 infores:orphanet PMID:30541864 Assessed uuid:97833911-d8a7-11f1-ae73-e4fade41113c NCBIGene:6335 biolink:causes Orphanet:46348 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10597 infores:orphanet PMID:17145499 Assessed gain_of_function_variant_form uuid:97833912-d8a7-11f1-ae73-e4fade41113c NCBIGene:6336 biolink:gene_associated_with_condition Orphanet:46348 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10582 infores:orphanet Not yet assessed uuid:97833913-d8a7-11f1-ae73-e4fade41113c NCBIGene:11280 biolink:gene_associated_with_condition Orphanet:46348 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10583 infores:orphanet Not yet assessed uuid:97833914-d8a7-11f1-ae73-e4fade41113c NCBIGene:6309 biolink:causes Orphanet:46059 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10547 infores:orphanet PMID:12812989 Assessed uuid:97833915-d8a7-11f1-ae73-e4fade41113c NCBIGene:4233 biolink:causes Orphanet:47044 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7029 infores:orphanet Assessed uuid:97833916-d8a7-11f1-ae73-e4fade41113c NCBIGene:7021 biolink:causes Orphanet:46627 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11743 infores:orphanet PMID:20301285 Assessed uuid:97833917-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:46532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:19050890 Assessed uuid:97833918-d8a7-11f1-ae73-e4fade41113c NCBIGene:3047 biolink:causes Orphanet:46532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4831 infores:orphanet PMID:6210198|PMID:24144231 Assessed uuid:97833919-d8a7-11f1-ae73-e4fade41113c NCBIGene:3048 biolink:causes Orphanet:46532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4832 infores:orphanet PMID:19050890|PMID:24144231|PMID:25435729 Assessed uuid:9783391a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10661 biolink:causes Orphanet:46532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6345 infores:orphanet PMID:20676099 Assessed uuid:9783391b-d8a7-11f1-ae73-e4fade41113c NCBIGene:11342 biolink:causes Orphanet:544503 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10057 infores:orphanet PMID:30595371 Assessed gain_of_function_variant_form uuid:9783391c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4953 biolink:causes Orphanet:544488 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:8109 infores:orphanet PMID:30239107|PMID:30475435|PMID:30544565 Assessed gain_of_function_variant_form uuid:9783391d-d8a7-11f1-ae73-e4fade41113c NCBIGene:58497 biolink:causes Orphanet:544469 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13420 infores:orphanet PMID:30556349 Assessed uuid:9783391e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4179 biolink:causes Orphanet:544472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6953 infores:orphanet PMID:20301541 Assessed uuid:9783391f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3075 biolink:causes Orphanet:544472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4883 infores:orphanet PMID:20301541 Assessed uuid:97833920-d8a7-11f1-ae73-e4fade41113c NCBIGene:3426 biolink:causes Orphanet:544472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5394 infores:orphanet PMID:20301541 Assessed uuid:97833921-d8a7-11f1-ae73-e4fade41113c NCBIGene:7056 biolink:gene_associated_with_condition Orphanet:544472 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11784 infores:orphanet PMID:20301541 Not yet assessed uuid:97833922-d8a7-11f1-ae73-e4fade41113c NCBIGene:629 biolink:causes Orphanet:544472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1037 infores:orphanet PMID:20301541 Assessed uuid:97833923-d8a7-11f1-ae73-e4fade41113c NCBIGene:718 biolink:causes Orphanet:544472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1318 infores:orphanet PMID:20301541 Assessed uuid:97833924-d8a7-11f1-ae73-e4fade41113c NCBIGene:114548 biolink:causes Orphanet:47045 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:16400 infores:orphanet PMID:11687797 Assessed gain_of_function_variant_form uuid:97833925-d8a7-11f1-ae73-e4fade41113c NCBIGene:3172 biolink:causes Orphanet:544628 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5024 infores:orphanet PMID:24285859 Assessed uuid:97833926-d8a7-11f1-ae73-e4fade41113c NCBIGene:4632 biolink:causes Orphanet:544602 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7582 infores:orphanet PMID:30215711 Assessed loss_of_function_variant_form uuid:97833927-d8a7-11f1-ae73-e4fade41113c NCBIGene:55739 biolink:causes Orphanet:555402 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25576 infores:orphanet PMID:30576410 Assessed uuid:97833928-d8a7-11f1-ae73-e4fade41113c NCBIGene:128240 biolink:causes Orphanet:555407 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18453 infores:orphanet PMID:27616477|PMID:27122014|PMID:29884839 Assessed uuid:97833929-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:555877 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3754 infores:orphanet PMID:17190868 Assessed uuid:9783392a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1585 biolink:causes Orphanet:556030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2592 infores:orphanet PMID:22801770 Assessed uuid:9783392b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1436 biolink:causes Orphanet:556985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2433 infores:orphanet PMID:30982608|PMID:30982609 Assessed uuid:9783392c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23019 biolink:causes Orphanet:556955 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7877 infores:orphanet PMID:31006513 Assessed uuid:9783392d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2744 biolink:causes Orphanet:557064 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4331 infores:orphanet PMID:30575854 Assessed loss_of_function_variant_form uuid:9783392e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2744 biolink:causes Orphanet:557056 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4331 infores:orphanet PMID:30575854|PMID:30970188|PMID:30987386 Assessed loss_of_function_variant_form uuid:9783392f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5286 biolink:causes Orphanet:557003 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8971 infores:orphanet PMID:31034465 Assessed loss_of_function_variant_form uuid:97833930-d8a7-11f1-ae73-e4fade41113c NCBIGene:27151 biolink:causes Orphanet:519388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23228 infores:orphanet PMID:27839872 Assessed uuid:97833931-d8a7-11f1-ae73-e4fade41113c NCBIGene:8322 biolink:contributes_to Orphanet:90050 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4042 infores:orphanet PMID:23441120 Assessed uuid:97833932-d8a7-11f1-ae73-e4fade41113c NCBIGene:4041 biolink:contributes_to Orphanet:90050 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6697 infores:orphanet PMID:23441120 Assessed uuid:97833933-d8a7-11f1-ae73-e4fade41113c NCBIGene:4693 biolink:contributes_to Orphanet:90050 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7678 infores:orphanet PMID:20301506 Assessed uuid:97833934-d8a7-11f1-ae73-e4fade41113c NCBIGene:113235 biolink:causes Orphanet:90045 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30521 infores:orphanet Assessed uuid:97833935-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:90039 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:11757720|PMID:25332633 Assessed uuid:97833936-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:90044 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:47 infores:orphanet PMID:23180570|PMID:24947683 Assessed gain_of_function_variant_form uuid:97833937-d8a7-11f1-ae73-e4fade41113c NCBIGene:2057 biolink:causes Orphanet:90042 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3416 infores:orphanet PMID:9359528|PMID:9192789 Assessed uuid:97833938-d8a7-11f1-ae73-e4fade41113c NCBIGene:2248 biolink:causes Orphanet:90024 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3681 infores:orphanet PMID:22993869 Assessed uuid:97833939-d8a7-11f1-ae73-e4fade41113c NCBIGene:28956 biolink:causes Orphanet:90023 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29796 infores:orphanet Assessed uuid:9783393a-d8a7-11f1-ae73-e4fade41113c NCBIGene:11315 biolink:gene_associated_with_condition Orphanet:90020 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:16369 infores:orphanet Not yet assessed uuid:9783393b-d8a7-11f1-ae73-e4fade41113c NCBIGene:54822 biolink:gene_associated_with_condition Orphanet:90020 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17994 infores:orphanet Not yet assessed uuid:9783393c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3098 biolink:causes Orphanet:90031 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4922 infores:orphanet PMID:12393545 Assessed uuid:9783393d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6335 biolink:causes Orphanet:90026 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10597 infores:orphanet PMID:15958509 Assessed gain_of_function_variant_form uuid:9783393e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6336 biolink:gene_associated_with_condition Orphanet:90026 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10582 infores:orphanet Not yet assessed uuid:9783393f-d8a7-11f1-ae73-e4fade41113c NCBIGene:11280 biolink:gene_associated_with_condition Orphanet:90026 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10583 infores:orphanet Not yet assessed uuid:97833940-d8a7-11f1-ae73-e4fade41113c NCBIGene:2936 biolink:causes Orphanet:90030 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4623 infores:orphanet PMID:17185460 Assessed uuid:97833941-d8a7-11f1-ae73-e4fade41113c NCBIGene:5251 biolink:causes Orphanet:89936 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8918 infores:orphanet PMID:22319799 Assessed loss_of_function_variant_form uuid:97833942-d8a7-11f1-ae73-e4fade41113c NCBIGene:5649 biolink:causes Orphanet:89844 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9957 infores:orphanet PMID:10973257 Assessed uuid:97833943-d8a7-11f1-ae73-e4fade41113c NCBIGene:54820 biolink:causes Orphanet:89844 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17619 infores:orphanet PMID:21529751|PMID:21529752 Assessed uuid:97833944-d8a7-11f1-ae73-e4fade41113c NCBIGene:10300 biolink:causes Orphanet:89844 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6217 infores:orphanet PMID:25521378|PMID:25521379 Assessed uuid:97833945-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:89843 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:97833946-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:89842 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:97833947-d8a7-11f1-ae73-e4fade41113c NCBIGene:5956 biolink:gene_associated_with_condition Orphanet:90001 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:9936 infores:orphanet PMID:23322568 Not yet assessed uuid:97833948-d8a7-11f1-ae73-e4fade41113c NCBIGene:2652 biolink:gene_associated_with_condition Orphanet:90001 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4206 infores:orphanet PMID:23322568 Not yet assessed uuid:97833949-d8a7-11f1-ae73-e4fade41113c NCBIGene:7809 biolink:causes Orphanet:89938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16512 infores:orphanet PMID:23110775 Assessed uuid:9783394a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1188 biolink:causes Orphanet:89938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2027 infores:orphanet PMID:18310267|PMID:18776122|PMID:12920401 Assessed loss_of_function_variant_form uuid:9783394b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1187 biolink:causes Orphanet:89938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2026 infores:orphanet PMID:18310267|PMID:18776122|PMID:12920401 Assessed loss_of_function_variant_form uuid:9783394c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8074 biolink:causes Orphanet:89937 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3680 infores:orphanet PMID:11062477|PMID:19655082 Assessed gain_of_function_variant_form uuid:9783394d-d8a7-11f1-ae73-e4fade41113c NCBIGene:64127 biolink:causes Orphanet:90340 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5331 infores:orphanet Assessed uuid:9783394e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5429 biolink:causes Orphanet:90342 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9181 infores:orphanet PMID:24130121 Assessed uuid:9783394f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5832 biolink:causes Orphanet:90348 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9722 infores:orphanet PMID:26320891 Assessed uuid:97833950-d8a7-11f1-ae73-e4fade41113c NCBIGene:2006 biolink:causes Orphanet:90348 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3327 infores:orphanet PMID:16085695|PMID:18348261 Assessed uuid:97833951-d8a7-11f1-ae73-e4fade41113c NCBIGene:10516 biolink:causes Orphanet:90348 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3602 infores:orphanet PMID:12618961|PMID:20301756 Assessed uuid:97833952-d8a7-11f1-ae73-e4fade41113c NCBIGene:30008 biolink:causes Orphanet:90349 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3219 infores:orphanet PMID:16685658|PMID:19664000 Assessed uuid:97833953-d8a7-11f1-ae73-e4fade41113c NCBIGene:10516 biolink:causes Orphanet:90349 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3602 infores:orphanet PMID:22829427 Assessed uuid:97833954-d8a7-11f1-ae73-e4fade41113c NCBIGene:4052 biolink:causes Orphanet:90349 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6714 infores:orphanet PMID:33991472 Assessed uuid:97833955-d8a7-11f1-ae73-e4fade41113c NCBIGene:84627 biolink:causes Orphanet:90354 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23216 infores:orphanet PMID:19661234|PMID:20938016 Assessed uuid:97833956-d8a7-11f1-ae73-e4fade41113c NCBIGene:11107 biolink:causes Orphanet:90354 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9349 infores:orphanet PMID:21664999 Assessed uuid:97833957-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:90308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:26268729 Assessed uuid:97833958-d8a7-11f1-ae73-e4fade41113c NCBIGene:55109 biolink:contributes_to Orphanet:90308 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:24684 infores:orphanet PMID:18564129 Assessed uuid:97833959-d8a7-11f1-ae73-e4fade41113c NCBIGene:5921 biolink:causes Orphanet:90307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9871 infores:orphanet PMID:18446851|PMID:21348050 Assessed uuid:9783395a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2074 biolink:causes Orphanet:90322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3438 infores:orphanet PMID:20301516 Assessed loss_of_function_variant_form uuid:9783395b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1161 biolink:causes Orphanet:90322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3439 infores:orphanet PMID:20301516 Assessed uuid:9783395c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2067 biolink:causes Orphanet:90322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3433 infores:orphanet PMID:23623389 Assessed uuid:9783395d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2072 biolink:causes Orphanet:90321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3436 infores:orphanet PMID:23623389 Assessed uuid:9783395e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2074 biolink:causes Orphanet:90321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3438 infores:orphanet PMID:20301516 Assessed loss_of_function_variant_form uuid:9783395f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1161 biolink:causes Orphanet:90321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3439 infores:orphanet PMID:20301516 Assessed uuid:97833960-d8a7-11f1-ae73-e4fade41113c NCBIGene:2074 biolink:causes Orphanet:90324 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3438 infores:orphanet PMID:20301516 Assessed loss_of_function_variant_form uuid:97833961-d8a7-11f1-ae73-e4fade41113c NCBIGene:1161 biolink:causes Orphanet:90324 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3439 infores:orphanet PMID:20301516 Assessed uuid:97833962-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:90153 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:12075506 Assessed uuid:97833963-d8a7-11f1-ae73-e4fade41113c NCBIGene:10269 biolink:causes Orphanet:90154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12877 infores:orphanet PMID:12913070|PMID:18435794 Assessed uuid:97833964-d8a7-11f1-ae73-e4fade41113c NCBIGene:2050 biolink:causes Orphanet:90186 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3395 infores:orphanet PMID:34231312 Assessed uuid:97833965-d8a7-11f1-ae73-e4fade41113c NCBIGene:9927 biolink:causes Orphanet:90118 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16877 infores:orphanet Assessed uuid:97833966-d8a7-11f1-ae73-e4fade41113c NCBIGene:10342 biolink:causes Orphanet:90117 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11758 infores:orphanet PMID:22883144 Assessed uuid:97833967-d8a7-11f1-ae73-e4fade41113c NCBIGene:9927 biolink:causes Orphanet:90120 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16877 infores:orphanet PMID:16437557 Assessed uuid:97833968-d8a7-11f1-ae73-e4fade41113c NCBIGene:91137 biolink:causes Orphanet:90120 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25198 infores:orphanet PMID:26168012 Assessed loss_of_function_variant_form uuid:97833969-d8a7-11f1-ae73-e4fade41113c NCBIGene:23345 biolink:causes Orphanet:88644 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17089 infores:orphanet PMID:17159980 Assessed uuid:9783396a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9533 biolink:causes Orphanet:88637 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20194 infores:orphanet PMID:26151409 Assessed uuid:9783396b-d8a7-11f1-ae73-e4fade41113c NCBIGene:11128 biolink:causes Orphanet:88637 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30074 infores:orphanet PMID:21855841|PMID:22855961 Assessed uuid:9783396c-d8a7-11f1-ae73-e4fade41113c NCBIGene:55703 biolink:causes Orphanet:88637 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30348 infores:orphanet PMID:22855961|PMID:22036172 Assessed uuid:9783396d-d8a7-11f1-ae73-e4fade41113c NCBIGene:26275 biolink:causes Orphanet:88639 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4908 infores:orphanet PMID:17160907|PMID:24299452 Assessed uuid:9783396e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6335 biolink:causes Orphanet:88642 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10597 infores:orphanet PMID:20529343 Assessed loss_of_function_variant_form uuid:9783396f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6336 biolink:gene_associated_with_condition Orphanet:88642 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10582 infores:orphanet Not yet assessed uuid:97833970-d8a7-11f1-ae73-e4fade41113c NCBIGene:11280 biolink:gene_associated_with_condition Orphanet:88642 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10583 infores:orphanet Not yet assessed uuid:97833971-d8a7-11f1-ae73-e4fade41113c NCBIGene:844 biolink:causes Orphanet:88635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1512 infores:orphanet PMID:25116801 Assessed uuid:97833972-d8a7-11f1-ae73-e4fade41113c NCBIGene:10999 biolink:causes Orphanet:88621 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10998 infores:orphanet PMID:19631310 Assessed uuid:97833973-d8a7-11f1-ae73-e4fade41113c NCBIGene:28982 biolink:causes Orphanet:88628 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24682 infores:orphanet PMID:21267618|PMID:20301317 Assessed uuid:97833974-d8a7-11f1-ae73-e4fade41113c NCBIGene:611 biolink:causes Orphanet:88629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1012 infores:orphanet PMID:1531728|PMID:1386496 Assessed uuid:97833975-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:88630 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3754 infores:orphanet PMID:20598277 Assessed uuid:97833976-d8a7-11f1-ae73-e4fade41113c NCBIGene:1260 biolink:causes Orphanet:88620 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2149 infores:orphanet PMID:25156905 Assessed uuid:97833977-d8a7-11f1-ae73-e4fade41113c NCBIGene:10178 biolink:causes Orphanet:88620 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8117 infores:orphanet PMID:27040985 Assessed uuid:97833978-d8a7-11f1-ae73-e4fade41113c NCBIGene:5903 biolink:causes Orphanet:88619 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9848 infores:orphanet PMID:19807769|PMID:19811512 Assessed uuid:97833979-d8a7-11f1-ae73-e4fade41113c NCBIGene:191 biolink:causes Orphanet:88618 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:343 infores:orphanet PMID:16435181 Assessed uuid:9783397a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8492 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9477 infores:orphanet PMID:12459588 Assessed uuid:9783397b-d8a7-11f1-ae73-e4fade41113c NCBIGene:54862 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30237 infores:orphanet PMID:16033914 Assessed uuid:9783397c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7175 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12017 infores:orphanet PMID:34494102 Assessed uuid:9783397d-d8a7-11f1-ae73-e4fade41113c NCBIGene:51185 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30185 infores:orphanet PMID:15557513 Assessed uuid:9783397e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7991 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30242 infores:orphanet PMID:21739581 Assessed uuid:9783397f-d8a7-11f1-ae73-e4fade41113c NCBIGene:81857 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28845 infores:orphanet PMID:25527630 Assessed uuid:97833980-d8a7-11f1-ae73-e4fade41113c NCBIGene:2898 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4580 infores:orphanet PMID:17847003 Assessed loss_of_function_variant_form uuid:97833981-d8a7-11f1-ae73-e4fade41113c NCBIGene:83696 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30832 infores:orphanet PMID:20004765|PMID:20004763 Assessed loss_of_function_variant_form uuid:97833982-d8a7-11f1-ae73-e4fade41113c NCBIGene:9255 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10648 infores:orphanet PMID:26173967 Assessed loss_of_function_variant_form uuid:97833983-d8a7-11f1-ae73-e4fade41113c NCBIGene:9524 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4551 infores:orphanet PMID:21212097 Assessed uuid:97833984-d8a7-11f1-ae73-e4fade41113c NCBIGene:23325 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29174 infores:orphanet PMID:21498477 Assessed uuid:97833985-d8a7-11f1-ae73-e4fade41113c NCBIGene:11253 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6823 infores:orphanet PMID:21763484 Assessed uuid:97833986-d8a7-11f1-ae73-e4fade41113c NCBIGene:9439 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2372 infores:orphanet PMID:21868677 Assessed uuid:97833987-d8a7-11f1-ae73-e4fade41113c NCBIGene:2902 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4584 infores:orphanet PMID:28051072 Assessed uuid:97833988-d8a7-11f1-ae73-e4fade41113c NCBIGene:79882 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20509 infores:orphanet PMID:21734151 Assessed uuid:97833989-d8a7-11f1-ae73-e4fade41113c NCBIGene:54888 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25994 infores:orphanet PMID:22541559|PMID:22541562 Assessed uuid:9783398a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8738 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2340 infores:orphanet PMID:22279524 Assessed uuid:9783398b-d8a7-11f1-ae73-e4fade41113c NCBIGene:148789 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28596 infores:orphanet PMID:29273094 Assessed uuid:9783398c-d8a7-11f1-ae73-e4fade41113c NCBIGene:55180 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30922 infores:orphanet PMID:23773660 Assessed uuid:9783398d-d8a7-11f1-ae73-e4fade41113c NCBIGene:80055 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25712 infores:orphanet PMID:24784135 Assessed loss_of_function_variant_form uuid:9783398e-d8a7-11f1-ae73-e4fade41113c NCBIGene:124512 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26988 infores:orphanet PMID:24626631 Assessed uuid:9783398f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6249 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10461 infores:orphanet PMID:24569606 Assessed loss_of_function_variant_form uuid:97833990-d8a7-11f1-ae73-e4fade41113c NCBIGene:79791 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16510 infores:orphanet PMID:24623383 Assessed loss_of_function_variant_form uuid:97833991-d8a7-11f1-ae73-e4fade41113c NCBIGene:3340 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7680 infores:orphanet PMID:25125150 Assessed uuid:97833992-d8a7-11f1-ae73-e4fade41113c NCBIGene:56776 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14074 infores:orphanet PMID:25480035 Assessed uuid:97833993-d8a7-11f1-ae73-e4fade41113c NCBIGene:80153 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26114 infores:orphanet PMID:25701870 Assessed uuid:97833994-d8a7-11f1-ae73-e4fade41113c NCBIGene:3176 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5028 infores:orphanet PMID:26206890 Assessed uuid:97833995-d8a7-11f1-ae73-e4fade41113c NCBIGene:7430 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12691 infores:orphanet PMID:25504542 Assessed loss_of_function_variant_form uuid:97833996-d8a7-11f1-ae73-e4fade41113c NCBIGene:9731 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24866 infores:orphanet PMID:35359234 Assessed uuid:97833997-d8a7-11f1-ae73-e4fade41113c NCBIGene:81562 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19263 infores:orphanet PMID:26566883 Assessed uuid:97833998-d8a7-11f1-ae73-e4fade41113c NCBIGene:28960 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29812 infores:orphanet PMID:25701870 Assessed uuid:97833999-d8a7-11f1-ae73-e4fade41113c NCBIGene:23043 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30765 infores:orphanet PMID:27106596 Assessed loss_of_function_variant_form uuid:9783399a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9922 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29112 infores:orphanet PMID:31607425 Assessed uuid:9783399b-d8a7-11f1-ae73-e4fade41113c NCBIGene:10765 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18039 infores:orphanet PMID:29276005 Assessed uuid:9783399c-d8a7-11f1-ae73-e4fade41113c NCBIGene:79143 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15505 infores:orphanet PMID:27616480 Assessed loss_of_function_variant_form uuid:9783399d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57102 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1184 infores:orphanet PMID:27311568 Assessed uuid:9783399e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6301 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10537 infores:orphanet PMID:28236339 Assessed uuid:9783399f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5279 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8960 infores:orphanet PMID:27694521 Assessed uuid:978339a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:50651 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17939 infores:orphanet PMID:28434495 Assessed uuid:978339a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:23732 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1362 infores:orphanet PMID:28675162 Assessed uuid:978339a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:51319 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24152 infores:orphanet PMID:28640246|PMID:29522154 Assessed uuid:978339a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2890 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4571 infores:orphanet PMID:35675825 Assessed uuid:978339a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:91801 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25189 infores:orphanet PMID:31079898 Assessed loss_of_function_variant_form uuid:978339a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1933 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3208 infores:orphanet PMID:35015920 Assessed uuid:978339a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:91875 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19274 infores:orphanet PMID:32439809 Assessed loss_of_function_variant_form uuid:978339a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:23154 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17597 infores:orphanet PMID:33711248 Assessed uuid:978339a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9354 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12499 infores:orphanet PMID:33420346 Assessed loss_of_function_variant_form uuid:978339a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:9147 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10663 infores:orphanet PMID:32934225 Assessed uuid:978339aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:2917 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4599 infores:orphanet PMID:27435318 Assessed uuid:978339ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:51126 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15908 infores:orphanet PMID:34230638 Assessed loss_of_function_variant_form uuid:978339ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:3612 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6050 infores:orphanet PMID:26416544 Assessed loss_of_function_variant_form uuid:978339ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:20 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32 infores:orphanet PMID:29302074 Assessed uuid:978339ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:25929 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20043 infores:orphanet PMID:33963192 Assessed loss_of_function_variant_form uuid:978339af-d8a7-11f1-ae73-e4fade41113c NCBIGene:1119 biolink:causes Orphanet:88616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1937 infores:orphanet PMID:35202461 Assessed uuid:978339b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:57152 biolink:causes Orphanet:87503 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18746 infores:orphanet PMID:12483299|PMID:20854438 Assessed uuid:978339b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3861 biolink:causes Orphanet:86920 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6416 infores:orphanet PMID:16960809 Assessed uuid:978339b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6857 biolink:causes Orphanet:522077 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11509 infores:orphanet PMID:25705886|PMID:30107533 Assessed uuid:978339b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:57465 biolink:causes Orphanet:86909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29203 infores:orphanet PMID:20727515 Assessed loss_of_function_variant_form uuid:978339b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6334 biolink:causes Orphanet:86909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10596 infores:orphanet PMID:29726066 Assessed uuid:978339b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:10815 biolink:causes Orphanet:86909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2309 infores:orphanet PMID:28422131 Assessed uuid:978339b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6513 biolink:causes Orphanet:86911 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11005 infores:orphanet PMID:26193382 Assessed uuid:978339b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3911 biolink:causes Orphanet:521450 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6485 infores:orphanet PMID:28735299 Assessed uuid:978339b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:92949 biolink:causes Orphanet:521445 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14632 infores:orphanet PMID:28722276 Assessed uuid:978339b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:8942 biolink:causes Orphanet:521438 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6469 infores:orphanet PMID:28792876 Assessed loss_of_function_variant_form uuid:978339ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:23498 biolink:causes Orphanet:521438 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4796 infores:orphanet PMID:28792876 Assessed loss_of_function_variant_form uuid:978339bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:55191 biolink:causes Orphanet:521438 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29832 infores:orphanet PMID:31883644 Assessed uuid:978339bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1595 biolink:causes Orphanet:521432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2649 infores:orphanet PMID:27878435 Assessed uuid:978339bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:9373 biolink:causes Orphanet:521426 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9043 infores:orphanet PMID:28007986|PMID:28413018 Assessed loss_of_function_variant_form uuid:978339be-d8a7-11f1-ae73-e4fade41113c NCBIGene:476 biolink:causes Orphanet:521414 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:799 infores:orphanet PMID:29499166 Assessed uuid:978339bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:10735 biolink:gene_associated_with_condition Orphanet:521258 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11355 infores:orphanet PMID:25677961|PMID:26443594 Assessed uuid:978339c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1120 biolink:causes Orphanet:521305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1938 infores:orphanet PMID:26782016|PMID:27169979 Assessed uuid:978339c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:57498 biolink:causes Orphanet:521390 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29508 infores:orphanet PMID:27005418 Assessed uuid:978339c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3852 biolink:causes Orphanet:89838 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6442 infores:orphanet PMID:31312705|PMID:31302245 Assessed uuid:978339c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3861 biolink:causes Orphanet:89838 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6416 infores:orphanet PMID:7526933 Assessed uuid:978339c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:23516 biolink:causes Orphanet:521406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20858 infores:orphanet PMID:29382362|PMID:29685658|PMID:27231142 Assessed uuid:978339c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:9997 biolink:causes Orphanet:521411 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10604 infores:orphanet PMID:29351582 Assessed uuid:978339c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4582 biolink:causes Orphanet:88949 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7508 infores:orphanet PMID:23396133|PMID:24509297 Assessed uuid:978339c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7369 biolink:causes Orphanet:88950 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12559 infores:orphanet PMID:20301530 Assessed uuid:978339c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:65125 biolink:causes Orphanet:88940 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14540 infores:orphanet PMID:22073419 Assessed uuid:978339c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:65266 biolink:causes Orphanet:88939 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14544 infores:orphanet PMID:22073419 Assessed uuid:978339ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:5310 biolink:gene_associated_with_condition Orphanet:88924 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9008 infores:orphanet PMID:15007723|PMID:22169896 Assessed uuid:978339cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7249 biolink:gene_associated_with_condition Orphanet:88924 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12363 infores:orphanet PMID:15007723|PMID:22169896 Assessed uuid:978339cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1285 biolink:causes Orphanet:88918 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2204 infores:orphanet PMID:20301386 Assessed uuid:978339cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1286 biolink:causes Orphanet:88918 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2206 infores:orphanet PMID:9269635|PMID:20301386|PMID:15086897|PMID:11572889|PMID:19129241 Assessed uuid:978339ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:1285 biolink:causes Orphanet:88919 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2204 infores:orphanet PMID:20301386 Assessed uuid:978339cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:1286 biolink:causes Orphanet:88919 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2206 infores:orphanet PMID:20301386 Assessed uuid:978339d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1287 biolink:causes Orphanet:88917 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2207 infores:orphanet PMID:20301386 Assessed uuid:978339d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2332 biolink:causes Orphanet:93256 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3775 infores:orphanet Assessed gain_of_function_variant_form uuid:978339d2-d8a7-11f1-ae73-e4fade41113c NCBIGene:9071 biolink:causes Orphanet:528105 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2033 infores:orphanet PMID:28674042 Assessed uuid:978339d3-d8a7-11f1-ae73-e4fade41113c NCBIGene:23395 biolink:gene_associated_with_condition Orphanet:528091 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:17095 infores:orphanet PMID:26537577 Not yet assessed uuid:978339d4-d8a7-11f1-ae73-e4fade41113c NCBIGene:10594 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17340 infores:orphanet PMID:35543142 Assessed loss_of_function_variant_form uuid:978339d5-d8a7-11f1-ae73-e4fade41113c NCBIGene:775 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1390 infores:orphanet PMID:30513141 Assessed uuid:978339d6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3064 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4851 infores:orphanet PMID:26740508 Assessed uuid:978339d7-d8a7-11f1-ae73-e4fade41113c NCBIGene:254065 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17342 infores:orphanet PMID:36414205 Assessed uuid:978339d8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5063 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8592 infores:orphanet PMID:18523455 Assessed loss_of_function_variant_form uuid:978339d9-d8a7-11f1-ae73-e4fade41113c NCBIGene:22854 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23319 infores:orphanet PMID:31668703 Assessed uuid:978339da-d8a7-11f1-ae73-e4fade41113c NCBIGene:2898 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4580 infores:orphanet PMID:34375587 Assessed loss_of_function_variant_form uuid:978339db-d8a7-11f1-ae73-e4fade41113c NCBIGene:10075 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30892 infores:orphanet PMID:29180823 Assessed uuid:978339dc-d8a7-11f1-ae73-e4fade41113c NCBIGene:8314 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:950 infores:orphanet PMID:35051358 Assessed uuid:978339dd-d8a7-11f1-ae73-e4fade41113c NCBIGene:10847 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16974 infores:orphanet PMID:33909990 Assessed uuid:978339de-d8a7-11f1-ae73-e4fade41113c NCBIGene:4849 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7879 infores:orphanet PMID:31201375 Assessed uuid:978339df-d8a7-11f1-ae73-e4fade41113c NCBIGene:55209 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25566 infores:orphanet PMID:28881385|PMID:39603091 Assessed uuid:978339e0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1917 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3192 infores:orphanet PMID:24697219 Assessed uuid:978339e1-d8a7-11f1-ae73-e4fade41113c NCBIGene:51132 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13429 infores:orphanet PMID:25644381|PMID:29728705 Assessed uuid:978339e2-d8a7-11f1-ae73-e4fade41113c NCBIGene:26523 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3262 infores:orphanet PMID:34930816 Assessed uuid:978339e3-d8a7-11f1-ae73-e4fade41113c NCBIGene:27161 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3263 infores:orphanet PMID:33199684 Assessed loss_of_function_variant_form uuid:978339e4-d8a7-11f1-ae73-e4fade41113c NCBIGene:63035 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25657 infores:orphanet PMID:30941876 Assessed uuid:978339e5-d8a7-11f1-ae73-e4fade41113c NCBIGene:26038 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16816 infores:orphanet PMID:33944996 Assessed loss_of_function_variant_form uuid:978339e6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1457 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2457 infores:orphanet PMID:27048600 Assessed uuid:978339e7-d8a7-11f1-ae73-e4fade41113c NCBIGene:80155 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30782 infores:orphanet PMID:29656860 Assessed loss_of_function_variant_form uuid:978339e8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6095 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10258 infores:orphanet PMID:29656859 Assessed uuid:978339e9-d8a7-11f1-ae73-e4fade41113c NCBIGene:10716 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11590 infores:orphanet PMID:29288087|PMID:30268909 Assessed uuid:978339ea-d8a7-11f1-ae73-e4fade41113c NCBIGene:6942 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11631 infores:orphanet PMID:30909959 Assessed uuid:978339eb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6934 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11641 infores:orphanet PMID:34003604 Assessed uuid:978339ec-d8a7-11f1-ae73-e4fade41113c NCBIGene:9320 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12306 infores:orphanet PMID:28251352 Assessed uuid:978339ed-d8a7-11f1-ae73-e4fade41113c NCBIGene:7514 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12825 infores:orphanet PMID:40819229 Assessed uuid:978339ee-d8a7-11f1-ae73-e4fade41113c NCBIGene:116115 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29415 infores:orphanet PMID:33397746 Assessed uuid:978339ef-d8a7-11f1-ae73-e4fade41113c NCBIGene:23001 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20751 infores:orphanet PMID:31327001 Assessed loss_of_function_variant_form uuid:978339f0-d8a7-11f1-ae73-e4fade41113c NCBIGene:9739 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29010 infores:orphanet PMID:32346159 Assessed uuid:978339f1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5361 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9099 infores:orphanet PMID:34054129 Assessed uuid:978339f2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7453 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12729 infores:orphanet PMID:35815345 Assessed uuid:978339f3-d8a7-11f1-ae73-e4fade41113c NCBIGene:9757 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15840 infores:orphanet PMID:33150406 Assessed uuid:978339f4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6045 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10061 infores:orphanet PMID:33864376 Assessed uuid:978339f5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3720 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6196 infores:orphanet PMID:33077894 Assessed uuid:978339f6-d8a7-11f1-ae73-e4fade41113c NCBIGene:86 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24124 infores:orphanet PMID:29728705 Assessed loss_of_function_variant_form uuid:978339f7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5718 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9557 infores:orphanet PMID:28132691|PMID:30421579 Assessed uuid:978339f8-d8a7-11f1-ae73-e4fade41113c NCBIGene:9969 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:22474 infores:orphanet PMID:29740699 Assessed uuid:978339f9-d8a7-11f1-ae73-e4fade41113c NCBIGene:23112 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29190 infores:orphanet PMID:32152250 Assessed uuid:978339fa-d8a7-11f1-ae73-e4fade41113c NCBIGene:51412 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:160 infores:orphanet PMID:31031012 Assessed uuid:978339fb-d8a7-11f1-ae73-e4fade41113c NCBIGene:57178 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16493 infores:orphanet PMID:30639322 Assessed uuid:978339fc-d8a7-11f1-ae73-e4fade41113c NCBIGene:54517 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26033 infores:orphanet PMID:30778726 Assessed uuid:978339fd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1795 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2989 infores:orphanet PMID:30976111 Assessed loss_of_function_variant_form uuid:978339fe-d8a7-11f1-ae73-e4fade41113c NCBIGene:55904 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18541 infores:orphanet PMID:31079897 Assessed uuid:978339ff-d8a7-11f1-ae73-e4fade41113c NCBIGene:374969 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29204 infores:orphanet PMID:30607023 Assessed loss_of_function_variant_form uuid:97833a00-d8a7-11f1-ae73-e4fade41113c NCBIGene:55621 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25980 infores:orphanet PMID:30289604 Assessed uuid:97833a01-d8a7-11f1-ae73-e4fade41113c NCBIGene:23019 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7877 infores:orphanet PMID:32553196 Assessed uuid:97833a02-d8a7-11f1-ae73-e4fade41113c NCBIGene:1656 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2747 infores:orphanet PMID:31422817 Assessed uuid:97833a03-d8a7-11f1-ae73-e4fade41113c NCBIGene:2893 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4574 infores:orphanet PMID:29220673 Assessed uuid:97833a04-d8a7-11f1-ae73-e4fade41113c NCBIGene:23291 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13607 infores:orphanet PMID:31402090 Assessed uuid:97833a05-d8a7-11f1-ae73-e4fade41113c NCBIGene:10087 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2205 infores:orphanet PMID:36976648 Assessed uuid:97833a06-d8a7-11f1-ae73-e4fade41113c NCBIGene:4123 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6827 infores:orphanet PMID:35045343 Assessed uuid:97833a07-d8a7-11f1-ae73-e4fade41113c NCBIGene:26115 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30212 infores:orphanet PMID:31616000 Assessed uuid:97833a08-d8a7-11f1-ae73-e4fade41113c NCBIGene:116931 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16050 infores:orphanet PMID:31155615 Assessed uuid:97833a09-d8a7-11f1-ae73-e4fade41113c NCBIGene:51399 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19943 infores:orphanet PMID:30690204 Assessed uuid:97833a0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:25930 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14406 infores:orphanet PMID:31395947 Assessed uuid:97833a0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1742 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2903 infores:orphanet PMID:33597769 Assessed uuid:97833a0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4076 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6743 infores:orphanet PMID:35979925 Assessed loss_of_function_variant_form uuid:97833a0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10492 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16918 infores:orphanet PMID:34157790 Assessed uuid:97833a0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4897 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7994 infores:orphanet PMID:35108495 Assessed uuid:97833a0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23162 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6884 infores:orphanet PMID:30612693 Assessed uuid:97833a10-d8a7-11f1-ae73-e4fade41113c NCBIGene:90416 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28295 infores:orphanet PMID:32307552 Assessed uuid:97833a11-d8a7-11f1-ae73-e4fade41113c NCBIGene:84148 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17933 infores:orphanet PMID:31794431 Assessed uuid:97833a12-d8a7-11f1-ae73-e4fade41113c NCBIGene:84628 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14288 infores:orphanet PMID:31668703 Assessed uuid:97833a13-d8a7-11f1-ae73-e4fade41113c NCBIGene:92154 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25094 infores:orphanet PMID:36067766|PMID:39890443 Assessed uuid:97833a14-d8a7-11f1-ae73-e4fade41113c NCBIGene:57466 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19304 infores:orphanet PMID:32730804 Assessed loss_of_function_variant_form uuid:97833a15-d8a7-11f1-ae73-e4fade41113c NCBIGene:55148 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20344 infores:orphanet PMID:33340455 Assessed uuid:97833a16-d8a7-11f1-ae73-e4fade41113c NCBIGene:8936 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12732 infores:orphanet PMID:29961568 Assessed uuid:97833a17-d8a7-11f1-ae73-e4fade41113c NCBIGene:7701 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12927 infores:orphanet PMID:35618198|PMID:35616059 Assessed uuid:97833a18-d8a7-11f1-ae73-e4fade41113c NCBIGene:2783 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4398 infores:orphanet PMID:34183358 Assessed uuid:97833a19-d8a7-11f1-ae73-e4fade41113c NCBIGene:8567 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6766 infores:orphanet PMID:32761064 Assessed uuid:97833a1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:64398 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18669 infores:orphanet PMID:33073849 Assessed uuid:97833a1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:23030 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29136 infores:orphanet PMID:33232677 Assessed uuid:97833a1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:56896 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20637 infores:orphanet PMID:33894126 Assessed loss_of_function_variant_form uuid:97833a1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2011 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3332 infores:orphanet PMID:39419027 Assessed uuid:97833a1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:9653 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5193 infores:orphanet PMID:33159882 Assessed uuid:97833a1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:164 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:555 infores:orphanet PMID:34102099 Assessed uuid:97833a20-d8a7-11f1-ae73-e4fade41113c NCBIGene:284361 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27609 infores:orphanet PMID:33531666 Assessed uuid:97833a21-d8a7-11f1-ae73-e4fade41113c NCBIGene:6711 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11275 infores:orphanet PMID:34211179 Assessed uuid:97833a22-d8a7-11f1-ae73-e4fade41113c NCBIGene:92255 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25287 infores:orphanet PMID:32820033 Assessed uuid:97833a23-d8a7-11f1-ae73-e4fade41113c NCBIGene:1182 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2021 infores:orphanet PMID:34186028 Assessed uuid:97833a24-d8a7-11f1-ae73-e4fade41113c NCBIGene:7074 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11805 infores:orphanet PMID:35240055 Assessed loss_of_function_variant_form uuid:97833a25-d8a7-11f1-ae73-e4fade41113c NCBIGene:490 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:814 infores:orphanet PMID:35358416 Assessed uuid:97833a26-d8a7-11f1-ae73-e4fade41113c NCBIGene:84065 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25363 infores:orphanet PMID:33824500 Assessed uuid:97833a27-d8a7-11f1-ae73-e4fade41113c NCBIGene:55593 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25402 infores:orphanet PMID:33131077 Assessed uuid:97833a28-d8a7-11f1-ae73-e4fade41113c NCBIGene:6477 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10857 infores:orphanet PMID:32430360 Assessed uuid:97833a29-d8a7-11f1-ae73-e4fade41113c NCBIGene:5881 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9803 infores:orphanet PMID:30293988 Assessed uuid:97833a2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9130 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18786 infores:orphanet PMID:32703943 Assessed uuid:97833a2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7750 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12989 infores:orphanet PMID:32891193 Assessed loss_of_function_variant_form uuid:97833a2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1984 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3300 infores:orphanet PMID:33547280 Assessed loss_of_function_variant_form uuid:97833a2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:374879 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24750 infores:orphanet PMID:33875846 Assessed uuid:97833a2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:56098 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8717 infores:orphanet PMID:34244665 Assessed uuid:97833a2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51692 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2326 infores:orphanet PMID:35121750 Assessed uuid:97833a30-d8a7-11f1-ae73-e4fade41113c NCBIGene:10079 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13540 infores:orphanet PMID:34379057 Assessed uuid:97833a31-d8a7-11f1-ae73-e4fade41113c NCBIGene:83475 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28662 infores:orphanet PMID:35858628 Assessed uuid:97833a32-d8a7-11f1-ae73-e4fade41113c NCBIGene:22859 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20973 infores:orphanet PMID:35907405 Assessed uuid:97833a33-d8a7-11f1-ae73-e4fade41113c NCBIGene:6874 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11537 infores:orphanet PMID:35904126 Assessed loss_of_function_variant_form uuid:97833a34-d8a7-11f1-ae73-e4fade41113c NCBIGene:1974 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3284 infores:orphanet PMID:36528028 Assessed loss_of_function_variant_form uuid:97833a35-d8a7-11f1-ae73-e4fade41113c NCBIGene:3183 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5035 infores:orphanet PMID:20385823|PMID:30537371 Assessed uuid:97833a36-d8a7-11f1-ae73-e4fade41113c NCBIGene:535 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:865 infores:orphanet PMID:33833240 Assessed uuid:97833a37-d8a7-11f1-ae73-e4fade41113c NCBIGene:1024 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1779 infores:orphanet PMID:30905399 Assessed uuid:97833a38-d8a7-11f1-ae73-e4fade41113c NCBIGene:283209 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20898 infores:orphanet PMID:33979636 Assessed uuid:97833a39-d8a7-11f1-ae73-e4fade41113c NCBIGene:9646 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16850 infores:orphanet PMID:35499524|PMID:35717577 Assessed uuid:97833a3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5898 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9839 infores:orphanet PMID:30500825 Assessed uuid:97833a3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4858 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7887 infores:orphanet PMID:32197073 Assessed uuid:97833a3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:55167 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25544 infores:orphanet PMID:38815585 Assessed uuid:97833a3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5976 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9962 infores:orphanet PMID:39571789 Assessed uuid:97833a3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:80204 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13590 infores:orphanet PMID:30679813 Assessed uuid:97833a3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23077 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23386 infores:orphanet PMID:36200388 Assessed loss_of_function_variant_form uuid:97833a40-d8a7-11f1-ae73-e4fade41113c NCBIGene:55294 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16712 infores:orphanet PMID:35395208 Assessed uuid:97833a41-d8a7-11f1-ae73-e4fade41113c NCBIGene:23036 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18410 infores:orphanet PMID:31723249 Assessed uuid:97833a42-d8a7-11f1-ae73-e4fade41113c NCBIGene:84678 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13610 infores:orphanet PMID:36322151 Assessed uuid:97833a43-d8a7-11f1-ae73-e4fade41113c NCBIGene:23135 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29012 infores:orphanet PMID:37196654 Assessed loss_of_function_variant_form uuid:97833a44-d8a7-11f1-ae73-e4fade41113c NCBIGene:10787 biolink:causes Orphanet:528084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7666 infores:orphanet PMID:33157009 Assessed uuid:97833a45-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:93262 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3690 infores:orphanet PMID:20301628 Assessed uuid:97833a46-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:93260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3689 infores:orphanet PMID:20301628 Assessed gain_of_function_variant_form uuid:97833a47-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:93259 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3689 infores:orphanet PMID:20301628 Assessed gain_of_function_variant_form uuid:97833a48-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:93258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3688 infores:orphanet PMID:20301628 Assessed uuid:97833a49-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:93258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3689 infores:orphanet PMID:20301628 Assessed gain_of_function_variant_form uuid:97833a4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57560 biolink:causes Orphanet:93271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29262 infores:orphanet PMID:22791528|PMID:19648123 Assessed uuid:97833a4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79659 biolink:causes Orphanet:93271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2962 infores:orphanet PMID:22791528|PMID:19442771 Assessed uuid:97833a4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57539 biolink:causes Orphanet:93271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29250 infores:orphanet PMID:21473986|PMID:22791528 Assessed uuid:97833a4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55112 biolink:causes Orphanet:93271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21862 infores:orphanet PMID:23910462 Assessed uuid:97833a4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:89891 biolink:causes Orphanet:93271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28296 infores:orphanet PMID:24183449 Assessed uuid:97833a4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:79659 biolink:causes Orphanet:93269 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2962 infores:orphanet PMID:22791528|PMID:21211617|PMID:22499340 Assessed uuid:97833a50-d8a7-11f1-ae73-e4fade41113c NCBIGene:4750 biolink:causes Orphanet:93269 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7744 infores:orphanet PMID:22791528|PMID:22499340|PMID:21211617 Assessed uuid:97833a51-d8a7-11f1-ae73-e4fade41113c NCBIGene:26146 biolink:causes Orphanet:93269 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17861 infores:orphanet PMID:29068549 Assessed uuid:97833a52-d8a7-11f1-ae73-e4fade41113c NCBIGene:79659 biolink:causes Orphanet:93270 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2962 infores:orphanet PMID:27925158 Assessed uuid:97833a53-d8a7-11f1-ae73-e4fade41113c NCBIGene:57560 biolink:causes Orphanet:93268 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29262 infores:orphanet PMID:30767363 Assessed uuid:97833a54-d8a7-11f1-ae73-e4fade41113c NCBIGene:55764 biolink:gene_associated_with_condition Orphanet:93268 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:13556 infores:orphanet PMID:28370949 Not yet assessed uuid:97833a55-d8a7-11f1-ae73-e4fade41113c NCBIGene:9060 biolink:causes Orphanet:93282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8604 infores:orphanet PMID:9771708 Assessed uuid:97833a56-d8a7-11f1-ae73-e4fade41113c NCBIGene:176 biolink:causes Orphanet:93283 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:319 infores:orphanet PMID:16080123 Assessed uuid:97833a57-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:93279 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:1975693 Assessed uuid:97833a58-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:93276 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4392 infores:orphanet PMID:10535539|PMID:10646121 Assessed uuid:97833a59-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:93277 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4392 infores:orphanet PMID:10535539|PMID:10646121 Assessed uuid:97833a5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:93274 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3690 infores:orphanet PMID:20301540 Assessed uuid:97833a5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:84504 biolink:causes Orphanet:527497 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19321 infores:orphanet PMID:28575651 Assessed uuid:97833a5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:54796 biolink:causes Orphanet:93110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30988 infores:orphanet PMID:31051115 Assessed uuid:97833a5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:64412 biolink:causes Orphanet:527450 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15808 infores:orphanet PMID:28475863 Assessed uuid:97833a5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:causes Orphanet:93100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9967 infores:orphanet PMID:21900877|PMID:24429398 Assessed uuid:97833a5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:80144 biolink:causes Orphanet:93100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19185 infores:orphanet PMID:21900877|PMID:24700879 Assessed uuid:97833a60-d8a7-11f1-ae73-e4fade41113c NCBIGene:341640 biolink:causes Orphanet:93100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25396 infores:orphanet PMID:21900877|PMID:24700879 Assessed uuid:97833a61-d8a7-11f1-ae73-e4fade41113c NCBIGene:652 biolink:causes Orphanet:93100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1071 infores:orphanet PMID:21900877 Assessed uuid:97833a62-d8a7-11f1-ae73-e4fade41113c NCBIGene:158326 biolink:causes Orphanet:93100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23399 infores:orphanet PMID:24370773|PMID:20807610 Assessed uuid:97833a63-d8a7-11f1-ae73-e4fade41113c NCBIGene:7380 biolink:causes Orphanet:93100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12580 infores:orphanet PMID:15888565 Assessed uuid:97833a64-d8a7-11f1-ae73-e4fade41113c NCBIGene:25778 biolink:causes Orphanet:93100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29043 infores:orphanet PMID:23862974|PMID:17273976 Assessed uuid:97833a65-d8a7-11f1-ae73-e4fade41113c NCBIGene:80000 biolink:causes Orphanet:93100 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:31042 infores:orphanet PMID:29100090|PMID:29100091 Assessed loss_of_function_variant_form uuid:97833a66-d8a7-11f1-ae73-e4fade41113c NCBIGene:3142 biolink:causes Orphanet:527468 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4978 infores:orphanet PMID:28898547 Assessed uuid:97833a67-d8a7-11f1-ae73-e4fade41113c NCBIGene:4072 biolink:causes Orphanet:92050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11529 infores:orphanet PMID:18572020 Assessed uuid:97833a68-d8a7-11f1-ae73-e4fade41113c NCBIGene:7421 biolink:causes Orphanet:93160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12679 infores:orphanet PMID:9284761 Assessed uuid:97833a69-d8a7-11f1-ae73-e4fade41113c NCBIGene:64423 biolink:causes Orphanet:93114 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23791 infores:orphanet PMID:22187985 Assessed uuid:97833a6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6928 biolink:causes Orphanet:93111 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11630 infores:orphanet PMID:21844708|PMID:22498247 Assessed uuid:97833a6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6928 biolink:causes Orphanet:93172 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11630 infores:orphanet PMID:28566479 Assessed uuid:97833a6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6928 biolink:causes Orphanet:93173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11630 infores:orphanet PMID:28566479 Assessed uuid:97833a6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2737 biolink:causes Orphanet:93322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4319 infores:orphanet PMID:26791356 Assessed loss_of_function_variant_form uuid:97833a6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:93321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet PMID:26394607 Assessed uuid:97833a6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:64327 biolink:causes Orphanet:93321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13243 infores:orphanet PMID:26394607 Assessed uuid:97833a70-d8a7-11f1-ae73-e4fade41113c NCBIGene:63901 biolink:causes Orphanet:93325 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24725 infores:orphanet PMID:23684011 Assessed uuid:97833a71-d8a7-11f1-ae73-e4fade41113c NCBIGene:6905 biolink:causes Orphanet:93324 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11582 infores:orphanet PMID:12389028 Assessed uuid:97833a72-d8a7-11f1-ae73-e4fade41113c NCBIGene:10082 biolink:causes Orphanet:93329 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4454 infores:orphanet PMID:19481194 Assessed loss_of_function_variant_form uuid:97833a73-d8a7-11f1-ae73-e4fade41113c NCBIGene:2535 biolink:causes Orphanet:93328 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4040 infores:orphanet PMID:25759469 Assessed uuid:97833a74-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:93336 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet PMID:26394607 Assessed uuid:97833a75-d8a7-11f1-ae73-e4fade41113c NCBIGene:64327 biolink:causes Orphanet:93336 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13243 infores:orphanet PMID:26394607 Assessed uuid:97833a76-d8a7-11f1-ae73-e4fade41113c NCBIGene:2737 biolink:causes Orphanet:93335 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4319 infores:orphanet PMID:26394607|PMID:18000979 Assessed uuid:97833a77-d8a7-11f1-ae73-e4fade41113c NCBIGene:2735 biolink:causes Orphanet:93335 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4317 infores:orphanet PMID:31549748 Assessed uuid:97833a78-d8a7-11f1-ae73-e4fade41113c NCBIGene:2737 biolink:causes Orphanet:93334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4319 infores:orphanet PMID:26394607|PMID:22428873 Assessed uuid:97833a79-d8a7-11f1-ae73-e4fade41113c NCBIGene:7700 biolink:causes Orphanet:93334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12926 infores:orphanet PMID:26394607|PMID:23160277 Assessed uuid:97833a7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:23288 biolink:causes Orphanet:93334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29171 infores:orphanet PMID:26394607|PMID:28488682 Assessed uuid:97833a7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2735 biolink:causes Orphanet:93334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4317 infores:orphanet PMID:31549748 Assessed uuid:97833a7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:137392 biolink:causes Orphanet:93334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30452 infores:orphanet PMID:30395363 Assessed uuid:97833a7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:285600 biolink:causes Orphanet:93334 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28532 infores:orphanet PMID:30982135 Assessed uuid:97833a7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6913 biolink:causes Orphanet:93333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11594 infores:orphanet PMID:19068278|PMID:24039145 Assessed loss_of_function_variant_form uuid:97833a7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2735 biolink:causes Orphanet:93339 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4317 infores:orphanet PMID:30620395 Assessed uuid:97833a80-d8a7-11f1-ae73-e4fade41113c NCBIGene:2737 biolink:causes Orphanet:93338 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4319 infores:orphanet PMID:26394607 Assessed uuid:97833a81-d8a7-11f1-ae73-e4fade41113c NCBIGene:633 biolink:causes Orphanet:93349 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1044 infores:orphanet PMID:27236923 Assessed uuid:97833a82-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:93346 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:7550321 Assessed uuid:97833a83-d8a7-11f1-ae73-e4fade41113c NCBIGene:6023 biolink:causes Orphanet:93347 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10031 infores:orphanet PMID:22420014 Assessed uuid:97833a84-d8a7-11f1-ae73-e4fade41113c NCBIGene:10940 biolink:causes Orphanet:93347 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30129 infores:orphanet PMID:21455487 Assessed loss_of_function_variant_form uuid:97833a85-d8a7-11f1-ae73-e4fade41113c NCBIGene:25871 biolink:causes Orphanet:93347 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24496 infores:orphanet PMID:31250547 Assessed uuid:97833a86-d8a7-11f1-ae73-e4fade41113c NCBIGene:4322 biolink:causes Orphanet:93356 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7159 infores:orphanet Assessed uuid:97833a87-d8a7-11f1-ae73-e4fade41113c NCBIGene:65992 biolink:causes Orphanet:93352 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16110 infores:orphanet PMID:28263186 Assessed loss_of_function_variant_form uuid:97833a88-d8a7-11f1-ae73-e4fade41113c NCBIGene:6399 biolink:causes Orphanet:93284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23068 infores:orphanet PMID:20301324 Assessed uuid:97833a89-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:93296 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:10797431 Assessed uuid:97833a8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1836 biolink:causes Orphanet:93298 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10994 infores:orphanet PMID:20301689 Assessed uuid:97833a8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:93297 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:10797431 Assessed uuid:97833a8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9321 biolink:causes Orphanet:93299 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12305 infores:orphanet PMID:20089971 Assessed loss_of_function_variant_form uuid:97833a8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:93304 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:18083 infores:orphanet PMID:18587396|PMID:24830047 Assessed gain_of_function_variant_form uuid:97833a8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1836 biolink:causes Orphanet:93307 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10994 infores:orphanet PMID:20301483 Assessed uuid:97833a8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1311 biolink:causes Orphanet:93308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2227 infores:orphanet PMID:20301302 Assessed uuid:97833a90-d8a7-11f1-ae73-e4fade41113c NCBIGene:4148 biolink:causes Orphanet:93311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6909 infores:orphanet PMID:20301302 Assessed uuid:97833a91-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:93314 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18083 infores:orphanet PMID:24830047 Assessed uuid:97833a92-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:gene_associated_with_condition Orphanet:93315 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2200 infores:orphanet PMID:17163530 Not yet assessed uuid:97833a93-d8a7-11f1-ae73-e4fade41113c NCBIGene:2335 biolink:causes Orphanet:93315 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3778 infores:orphanet PMID:29100092 Assessed uuid:97833a94-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:93316 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:23653587 Assessed uuid:97833a95-d8a7-11f1-ae73-e4fade41113c NCBIGene:2879 biolink:causes Orphanet:93317 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4556 infores:orphanet PMID:24706940 Assessed uuid:97833a96-d8a7-11f1-ae73-e4fade41113c NCBIGene:2186 biolink:gene_associated_with_condition Orphanet:529962 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3581 infores:orphanet PMID:28465847|PMID:29696806 Assessed uuid:97833a97-d8a7-11f1-ae73-e4fade41113c NCBIGene:5718 biolink:gene_associated_with_condition Orphanet:529962 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9557 infores:orphanet PMID:28465847|PMID:29696806 Assessed uuid:97833a98-d8a7-11f1-ae73-e4fade41113c NCBIGene:7253 biolink:causes Orphanet:90673 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12373 infores:orphanet PMID:19158199|PMID:20537182 Assessed loss_of_function_variant_form uuid:97833a99-d8a7-11f1-ae73-e4fade41113c NCBIGene:7252 biolink:causes Orphanet:90674 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12372 infores:orphanet PMID:12930599|PMID:20537182|PMID:22851492 Assessed uuid:97833a9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5376 biolink:causes Orphanet:90658 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9118 infores:orphanet PMID:20301384 Assessed uuid:97833a9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3284 biolink:causes Orphanet:90791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5218 infores:orphanet Assessed uuid:97833a9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10725 biolink:gene_associated_with_condition Orphanet:529980 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7774 infores:orphanet PMID:25667416 Not yet assessed uuid:97833a9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8737 biolink:causes Orphanet:529977 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10019 infores:orphanet PMID:30026316 Assessed loss_of_function_variant_form uuid:97833a9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5626 biolink:causes Orphanet:90695 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9455 infores:orphanet Assessed uuid:97833a9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6658 biolink:causes Orphanet:90695 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11199 infores:orphanet PMID:15800844 Assessed loss_of_function_variant_form uuid:97833aa0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1105 biolink:causes Orphanet:529965 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1915 infores:orphanet PMID:28866611 Assessed uuid:97833aa1-d8a7-11f1-ae73-e4fade41113c NCBIGene:83449 biolink:causes Orphanet:529970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17728 infores:orphanet PMID:30032984 Assessed uuid:97833aa2-d8a7-11f1-ae73-e4fade41113c NCBIGene:140732 biolink:causes Orphanet:529970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16252 infores:orphanet PMID:27640305 Assessed uuid:97833aa3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5631 biolink:causes Orphanet:90625 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9462 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aa4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1288 biolink:causes Orphanet:90625 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2208 infores:orphanet PMID:23714752 Assessed uuid:97833aa5-d8a7-11f1-ae73-e4fade41113c NCBIGene:23676 biolink:causes Orphanet:90625 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11122 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aa6-d8a7-11f1-ae73-e4fade41113c NCBIGene:83715 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13281 infores:orphanet PMID:15930085 Assessed uuid:97833aa7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5459 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9220 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aa8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6495 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10887 infores:orphanet PMID:20301607 Assessed uuid:97833aa9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7007 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11720 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aaa-d8a7-11f1-ae73-e4fade41113c NCBIGene:117531 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16513 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aab-d8a7-11f1-ae73-e4fade41113c NCBIGene:7466 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12762 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aac-d8a7-11f1-ae73-e4fade41113c NCBIGene:1690 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2180 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aad-d8a7-11f1-ae73-e4fade41113c NCBIGene:1301 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2186 infores:orphanet PMID:30245514|PMID:33605226 Assessed uuid:97833aae-d8a7-11f1-ae73-e4fade41113c NCBIGene:1302 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2187 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aaf-d8a7-11f1-ae73-e4fade41113c NCBIGene:1687 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2810 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2070 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3522 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2706 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4284 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2707 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4285 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab3-d8a7-11f1-ae73-e4fade41113c NCBIGene:10804 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4288 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab4-d8a7-11f1-ae73-e4fade41113c NCBIGene:9132 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6298 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab5-d8a7-11f1-ae73-e4fade41113c NCBIGene:79784 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23212 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4627 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7579 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4646 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7605 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4647 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7606 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ab9-d8a7-11f1-ae73-e4fade41113c NCBIGene:152137 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18111 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aba-d8a7-11f1-ae73-e4fade41113c NCBIGene:79977 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2799 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833abb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4640 biolink:gene_associated_with_condition Orphanet:90635 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7595 infores:orphanet Not yet assessed uuid:97833abc-d8a7-11f1-ae73-e4fade41113c NCBIGene:1428 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2418 infores:orphanet PMID:24148127 Assessed uuid:97833abd-d8a7-11f1-ae73-e4fade41113c NCBIGene:71 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:144 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833abe-d8a7-11f1-ae73-e4fade41113c NCBIGene:246213 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20151 infores:orphanet PMID:20301607 Assessed uuid:97833abf-d8a7-11f1-ae73-e4fade41113c NCBIGene:407053 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31648 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ac0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4254 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6343 infores:orphanet PMID:26522471 Assessed uuid:97833ac1-d8a7-11f1-ae73-e4fade41113c NCBIGene:374462 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9679 infores:orphanet PMID:29309402 Assessed uuid:97833ac2-d8a7-11f1-ae73-e4fade41113c NCBIGene:57465 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29203 infores:orphanet PMID:24729547|PMID:24729539 Assessed uuid:97833ac3-d8a7-11f1-ae73-e4fade41113c NCBIGene:9414 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11828 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ac4-d8a7-11f1-ae73-e4fade41113c NCBIGene:388551 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31948 infores:orphanet PMID:21368133 Assessed uuid:97833ac5-d8a7-11f1-ae73-e4fade41113c NCBIGene:56616 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21528 infores:orphanet PMID:21722859|PMID:24148127 Assessed uuid:97833ac6-d8a7-11f1-ae73-e4fade41113c NCBIGene:81624 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15480 infores:orphanet PMID:20624953 Assessed uuid:97833ac7-d8a7-11f1-ae73-e4fade41113c NCBIGene:22953 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15459 infores:orphanet PMID:23345450|PMID:20301607 Assessed uuid:97833ac8-d8a7-11f1-ae73-e4fade41113c NCBIGene:23250 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13552 infores:orphanet PMID:35278131 Assessed uuid:97833ac9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3371 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5318 infores:orphanet PMID:23936043 Assessed uuid:97833aca-d8a7-11f1-ae73-e4fade41113c NCBIGene:4641 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7597 infores:orphanet PMID:19027848|PMID:24148127 Assessed uuid:97833acb-d8a7-11f1-ae73-e4fade41113c NCBIGene:9885 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15761 infores:orphanet PMID:25077649 Assessed uuid:97833acc-d8a7-11f1-ae73-e4fade41113c NCBIGene:9455 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17513 infores:orphanet PMID:25816005 Assessed uuid:97833acd-d8a7-11f1-ae73-e4fade41113c NCBIGene:23312 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2938 infores:orphanet PMID:27657680 Assessed uuid:97833ace-d8a7-11f1-ae73-e4fade41113c NCBIGene:4171 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6944 infores:orphanet PMID:26196677 Assessed uuid:97833acf-d8a7-11f1-ae73-e4fade41113c NCBIGene:8763 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1632 infores:orphanet PMID:26197441 Assessed uuid:97833ad0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4363 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:51 infores:orphanet PMID:31273342 Assessed uuid:97833ad1-d8a7-11f1-ae73-e4fade41113c NCBIGene:80736 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13941 infores:orphanet PMID:28013291 Assessed uuid:97833ad2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6742 biolink:contributes_to Orphanet:90635 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11317 infores:orphanet PMID:29182774 Assessed uuid:97833ad3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8295 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12347 infores:orphanet PMID:31231791 Assessed uuid:97833ad4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5137 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8776 infores:orphanet PMID:29860631 Assessed uuid:97833ad5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4131 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6836 infores:orphanet PMID:33268592 Assessed uuid:97833ad6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5357 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9090 infores:orphanet PMID:31397523|PMID:30872814 Assessed uuid:97833ad7-d8a7-11f1-ae73-e4fade41113c NCBIGene:84196 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18533 infores:orphanet PMID:34059922 Assessed uuid:97833ad8-d8a7-11f1-ae73-e4fade41113c NCBIGene:401541 biolink:causes Orphanet:90635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32933 infores:orphanet PMID:36071244 Assessed uuid:97833ad9-d8a7-11f1-ae73-e4fade41113c NCBIGene:79955 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26257 infores:orphanet PMID:29048736|PMID:26849169 Assessed uuid:97833ada-d8a7-11f1-ae73-e4fade41113c NCBIGene:5172 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8818 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833adb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7809 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16512 infores:orphanet PMID:20301607 Assessed uuid:97833adc-d8a7-11f1-ae73-e4fade41113c NCBIGene:64072 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13733 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833add-d8a7-11f1-ae73-e4fade41113c NCBIGene:7007 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11720 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ade-d8a7-11f1-ae73-e4fade41113c NCBIGene:117531 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16513 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833adf-d8a7-11f1-ae73-e4fade41113c NCBIGene:259236 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30800 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ae0-d8a7-11f1-ae73-e4fade41113c NCBIGene:64699 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11877 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ae1-d8a7-11f1-ae73-e4fade41113c NCBIGene:10083 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12597 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ae2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1302 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2187 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ae3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2697 biolink:gene_associated_with_condition Orphanet:90636 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4274 infores:orphanet PMID:11741837 Not yet assessed uuid:97833ae4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2706 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4284 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ae5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2707 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4285 infores:orphanet PMID:10587579 Assessed uuid:97833ae6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10804 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4288 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ae7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4233 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7029 infores:orphanet PMID:25941349 Assessed uuid:97833ae8-d8a7-11f1-ae73-e4fade41113c NCBIGene:51168 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7594 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833ae9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4646 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7605 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aea-d8a7-11f1-ae73-e4fade41113c NCBIGene:4647 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7606 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aeb-d8a7-11f1-ae73-e4fade41113c NCBIGene:9381 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8515 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aec-d8a7-11f1-ae73-e4fade41113c NCBIGene:65217 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14674 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aed-d8a7-11f1-ae73-e4fade41113c NCBIGene:25861 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16361 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aee-d8a7-11f1-ae73-e4fade41113c NCBIGene:161497 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16035 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aef-d8a7-11f1-ae73-e4fade41113c NCBIGene:11078 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17009 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5962 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9944 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af1-d8a7-11f1-ae73-e4fade41113c NCBIGene:222662 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21253 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af2-d8a7-11f1-ae73-e4fade41113c NCBIGene:83715 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13281 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2103 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3473 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af4-d8a7-11f1-ae73-e4fade41113c NCBIGene:153562 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26401 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af5-d8a7-11f1-ae73-e4fade41113c NCBIGene:53904 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7601 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af6-d8a7-11f1-ae73-e4fade41113c NCBIGene:375611 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9359 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af7-d8a7-11f1-ae73-e4fade41113c NCBIGene:146183 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16378 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af8-d8a7-11f1-ae73-e4fade41113c NCBIGene:494513 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29502 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833af9-d8a7-11f1-ae73-e4fade41113c NCBIGene:23562 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2035 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833afa-d8a7-11f1-ae73-e4fade41113c NCBIGene:220074 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25033 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833afb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3082 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4893 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833afc-d8a7-11f1-ae73-e4fade41113c NCBIGene:125336 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26521 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833afd-d8a7-11f1-ae73-e4fade41113c NCBIGene:389207 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31673 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833afe-d8a7-11f1-ae73-e4fade41113c NCBIGene:286262 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26894 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833aff-d8a7-11f1-ae73-e4fade41113c NCBIGene:374462 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9679 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833b00-d8a7-11f1-ae73-e4fade41113c NCBIGene:5269 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8950 infores:orphanet PMID:24148127 Assessed uuid:97833b01-d8a7-11f1-ae73-e4fade41113c NCBIGene:57465 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29203 infores:orphanet PMID:24387994 Assessed uuid:97833b02-d8a7-11f1-ae73-e4fade41113c NCBIGene:29899 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29501 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833b03-d8a7-11f1-ae73-e4fade41113c NCBIGene:253827 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27375 infores:orphanet PMID:24148127 Assessed uuid:97833b04-d8a7-11f1-ae73-e4fade41113c NCBIGene:286676 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28741 infores:orphanet PMID:24148127 Assessed uuid:97833b05-d8a7-11f1-ae73-e4fade41113c NCBIGene:388551 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31948 infores:orphanet PMID:29703829 Assessed uuid:97833b06-d8a7-11f1-ae73-e4fade41113c NCBIGene:3735 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6215 infores:orphanet PMID:23768514 Assessed uuid:97833b07-d8a7-11f1-ae73-e4fade41113c NCBIGene:126326 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18183 infores:orphanet PMID:24148127 Assessed uuid:97833b08-d8a7-11f1-ae73-e4fade41113c NCBIGene:10518 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24579 infores:orphanet PMID:23023331|PMID:24148127 Assessed uuid:97833b09-d8a7-11f1-ae73-e4fade41113c NCBIGene:51475 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1385 infores:orphanet PMID:22981119 Assessed uuid:97833b0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:340990 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8516 infores:orphanet PMID:23122587 Assessed uuid:97833b0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:87178 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23166 infores:orphanet PMID:23084290 Assessed uuid:97833b0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:283310 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26901 infores:orphanet PMID:23122586 Assessed uuid:97833b0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:163183 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26703 infores:orphanet PMID:23348741|PMID:20301607 Assessed uuid:97833b0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:84189 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23503 infores:orphanet PMID:23543054 Assessed loss_of_function_variant_form uuid:97833b0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:84173 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26158 infores:orphanet PMID:24039609 Assessed uuid:97833b10-d8a7-11f1-ae73-e4fade41113c NCBIGene:643226 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:33862 infores:orphanet PMID:24619944 Assessed loss_of_function_variant_form uuid:97833b11-d8a7-11f1-ae73-e4fade41113c NCBIGene:2059 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3420 infores:orphanet PMID:24741995 Assessed loss_of_function_variant_form uuid:97833b12-d8a7-11f1-ae73-e4fade41113c NCBIGene:107 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:232 infores:orphanet PMID:24482543 Assessed loss_of_function_variant_form uuid:97833b13-d8a7-11f1-ae73-e4fade41113c NCBIGene:53405 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13517 infores:orphanet PMID:24781754 Assessed uuid:97833b14-d8a7-11f1-ae73-e4fade41113c NCBIGene:9750 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13872 infores:orphanet PMID:24958875 Assessed uuid:97833b15-d8a7-11f1-ae73-e4fade41113c NCBIGene:51473 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18141 infores:orphanet PMID:25601850 Assessed uuid:97833b16-d8a7-11f1-ae73-e4fade41113c NCBIGene:491 biolink:contributes_to Orphanet:90636 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:815 infores:orphanet PMID:15829536 Assessed uuid:97833b17-d8a7-11f1-ae73-e4fade41113c NCBIGene:79731 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26274 infores:orphanet PMID:25807530 Assessed uuid:97833b18-d8a7-11f1-ae73-e4fade41113c NCBIGene:9294 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3169 infores:orphanet PMID:26805784 Assessed loss_of_function_variant_form uuid:97833b19-d8a7-11f1-ae73-e4fade41113c NCBIGene:8556 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1718 infores:orphanet PMID:27259055 Assessed loss_of_function_variant_form uuid:97833b1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:55814 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13652 infores:orphanet PMID:24312468 Assessed uuid:97833b1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4919 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10256 infores:orphanet PMID:27162350 Assessed uuid:97833b1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:23558 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12738 infores:orphanet PMID:26881968 Assessed uuid:97833b1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:64787 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21296 infores:orphanet PMID:26282398 Assessed uuid:97833b1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10205 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3496 infores:orphanet PMID:29961571 Assessed uuid:97833b1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23262 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29035 infores:orphanet PMID:29590114 Assessed uuid:97833b20-d8a7-11f1-ae73-e4fade41113c NCBIGene:124842 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26991 infores:orphanet PMID:25331638 Assessed uuid:97833b21-d8a7-11f1-ae73-e4fade41113c NCBIGene:10750 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4562 infores:orphanet PMID:30610177 Assessed uuid:97833b22-d8a7-11f1-ae73-e4fade41113c NCBIGene:100127206 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33914 infores:orphanet PMID:35727972 Assessed uuid:97833b23-d8a7-11f1-ae73-e4fade41113c NCBIGene:79029 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28762 infores:orphanet PMID:34626583 Assessed uuid:97833b24-d8a7-11f1-ae73-e4fade41113c NCBIGene:84899 biolink:causes Orphanet:90636 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25904 infores:orphanet PMID:37943620 Assessed uuid:97833b25-d8a7-11f1-ae73-e4fade41113c NCBIGene:9935 biolink:causes Orphanet:529574 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6408 infores:orphanet PMID:27181683 Assessed uuid:97833b26-d8a7-11f1-ae73-e4fade41113c NCBIGene:1041 biolink:causes Orphanet:90368 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1802 infores:orphanet PMID:12754508 Assessed uuid:97833b27-d8a7-11f1-ae73-e4fade41113c NCBIGene:121391 biolink:causes Orphanet:90368 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28929 infores:orphanet PMID:21188418 Assessed uuid:97833b28-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:90389 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet Assessed uuid:97833b29-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:90653 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:9800905|PMID:21671392 Assessed uuid:97833b2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:90652 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3754 infores:orphanet PMID:20301567 Assessed gain_of_function_variant_form uuid:97833b2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:652 biolink:causes Orphanet:90654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1071 infores:orphanet PMID:30568244 Assessed uuid:97833b2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1301 biolink:causes Orphanet:90654 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2186 infores:orphanet Assessed uuid:97833b2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8733 biolink:causes Orphanet:529665 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4446 infores:orphanet PMID:29100095 Assessed uuid:97833b2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3753 biolink:causes Orphanet:90647 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6240 infores:orphanet PMID:20301579|PMID:24093767 Assessed loss_of_function_variant_form uuid:97833b2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3784 biolink:causes Orphanet:90647 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6294 infores:orphanet PMID:20301579|PMID:24093767 Assessed loss_of_function_variant_form uuid:97833b30-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:90650 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3754 infores:orphanet PMID:20301567 Assessed gain_of_function_variant_form uuid:97833b31-d8a7-11f1-ae73-e4fade41113c NCBIGene:5456 biolink:causes Orphanet:90641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9217 infores:orphanet PMID:19930154 Assessed uuid:97833b32-d8a7-11f1-ae73-e4fade41113c NCBIGene:51106 biolink:contributes_to Orphanet:90641 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:17037 infores:orphanet PMID:23510774 Assessed uuid:97833b33-d8a7-11f1-ae73-e4fade41113c NCBIGene:55687 biolink:contributes_to Orphanet:90641 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:25481 infores:orphanet PMID:23510774 Assessed uuid:97833b34-d8a7-11f1-ae73-e4fade41113c NCBIGene:4512 biolink:causes Orphanet:90641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7419 infores:orphanet PMID:20301607 Assessed uuid:97833b35-d8a7-11f1-ae73-e4fade41113c NCBIGene:4538 biolink:gene_associated_with_condition Orphanet:90641 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7459 infores:orphanet PMID:17723226 Not yet assessed uuid:97833b36-d8a7-11f1-ae73-e4fade41113c NCBIGene:4549 biolink:causes Orphanet:90641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7470 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833b37-d8a7-11f1-ae73-e4fade41113c NCBIGene:4564 biolink:causes Orphanet:90641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7487 infores:orphanet PMID:21931169 Assessed uuid:97833b38-d8a7-11f1-ae73-e4fade41113c NCBIGene:4574 biolink:causes Orphanet:90641 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7497 infores:orphanet PMID:20301607|PMID:24148127 Assessed uuid:97833b39-d8a7-11f1-ae73-e4fade41113c NCBIGene:4089 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6770 infores:orphanet PMID:30809044 Assessed uuid:97833b3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7042 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11768 infores:orphanet PMID:22772371 Assessed uuid:97833b3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7043 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11769 infores:orphanet PMID:23824657|PMID:25835445 Assessed loss_of_function_variant_form uuid:97833b3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7046 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11772 infores:orphanet PMID:20301299 Assessed uuid:97833b3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7048 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11773 infores:orphanet PMID:20301299 Assessed uuid:97833b3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:30008 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3219 infores:orphanet PMID:22440127 Assessed uuid:97833b3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2006 biolink:gene_associated_with_condition Orphanet:91387 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3327 infores:orphanet PMID:24932728 Not yet assessed uuid:97833b40-d8a7-11f1-ae73-e4fade41113c NCBIGene:2200 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3603 infores:orphanet PMID:20301299 Assessed uuid:97833b41-d8a7-11f1-ae73-e4fade41113c NCBIGene:2301 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3808 infores:orphanet PMID:26854927 Assessed uuid:97833b42-d8a7-11f1-ae73-e4fade41113c NCBIGene:4629 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7569 infores:orphanet PMID:20301299 Assessed uuid:97833b43-d8a7-11f1-ae73-e4fade41113c NCBIGene:59 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:130 infores:orphanet PMID:20301299 Assessed uuid:97833b44-d8a7-11f1-ae73-e4fade41113c NCBIGene:4638 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7590 infores:orphanet PMID:20301299 Assessed uuid:97833b45-d8a7-11f1-ae73-e4fade41113c NCBIGene:4088 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6769 infores:orphanet PMID:20301299 Assessed uuid:97833b46-d8a7-11f1-ae73-e4fade41113c NCBIGene:5592 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9414 infores:orphanet PMID:23910461 Assessed gain_of_function_variant_form uuid:97833b47-d8a7-11f1-ae73-e4fade41113c NCBIGene:8076 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29673 infores:orphanet PMID:25434006 Assessed loss_of_function_variant_form uuid:97833b48-d8a7-11f1-ae73-e4fade41113c NCBIGene:4015 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6664 infores:orphanet PMID:26838787|PMID:27432961 Assessed loss_of_function_variant_form uuid:97833b49-d8a7-11f1-ae73-e4fade41113c NCBIGene:23493 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4881 infores:orphanet PMID:32820247 Assessed loss_of_function_variant_form uuid:97833b4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4087 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6768 infores:orphanet PMID:29967133 Assessed loss_of_function_variant_form uuid:97833b4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4144 biolink:gene_associated_with_condition Orphanet:91387 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6904 infores:orphanet PMID:25557781 Assessed uuid:97833b4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:79875 biolink:causes Orphanet:91387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25835 infores:orphanet PMID:32855533 Assessed uuid:97833b4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:84570 biolink:causes Orphanet:91411 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18603 infores:orphanet PMID:26486031|PMID:25500261 Assessed uuid:97833b4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:79776 biolink:gene_associated_with_condition Orphanet:91411 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:30939 infores:orphanet PMID:11935336|PMID:17987257 Not yet assessed uuid:97833b4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3769 biolink:causes Orphanet:91496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6259 infores:orphanet PMID:18179896 Assessed uuid:97833b50-d8a7-11f1-ae73-e4fade41113c NCBIGene:8322 biolink:causes Orphanet:91495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4042 infores:orphanet PMID:19172507|PMID:20092598|PMID:20301506 Assessed uuid:97833b51-d8a7-11f1-ae73-e4fade41113c NCBIGene:4693 biolink:causes Orphanet:91495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7678 infores:orphanet PMID:20301506 Assessed uuid:97833b52-d8a7-11f1-ae73-e4fade41113c NCBIGene:220202 biolink:causes Orphanet:91495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13907 infores:orphanet PMID:22645276 Assessed uuid:97833b53-d8a7-11f1-ae73-e4fade41113c NCBIGene:5308 biolink:causes Orphanet:91481 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9005 infores:orphanet PMID:15591271 Assessed uuid:97833b54-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:91414 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:2514 infores:orphanet PMID:10192393 Assessed uuid:97833b55-d8a7-11f1-ae73-e4fade41113c NCBIGene:2703 biolink:causes Orphanet:91490 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4281 infores:orphanet PMID:28455998 Assessed uuid:97833b56-d8a7-11f1-ae73-e4fade41113c NCBIGene:91851 biolink:causes Orphanet:91489 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29861 infores:orphanet PMID:22284829 Assessed uuid:97833b57-d8a7-11f1-ae73-e4fade41113c NCBIGene:5308 biolink:causes Orphanet:91483 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9005 infores:orphanet PMID:19513095|PMID:24433355 Assessed uuid:97833b58-d8a7-11f1-ae73-e4fade41113c NCBIGene:2296 biolink:causes Orphanet:91483 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3800 infores:orphanet PMID:9620769|PMID:11170889 Assessed uuid:97833b59-d8a7-11f1-ae73-e4fade41113c NCBIGene:5250 biolink:causes Orphanet:91130 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10989 infores:orphanet PMID:17273968 Assessed uuid:97833b5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:22845 biolink:causes Orphanet:91131 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23406 infores:orphanet PMID:20301507 Assessed uuid:97833b5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6768 biolink:causes Orphanet:91132 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11344 infores:orphanet PMID:17273967 Assessed uuid:97833b5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1586 biolink:causes Orphanet:90793 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2593 infores:orphanet Assessed uuid:97833b5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1584 biolink:causes Orphanet:90795 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2591 infores:orphanet Assessed uuid:97833b5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1528 biolink:causes Orphanet:90796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2570 infores:orphanet PMID:20080843 Assessed uuid:97833b5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1586 biolink:causes Orphanet:90796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2593 infores:orphanet PMID:12466376 Assessed uuid:97833b60-d8a7-11f1-ae73-e4fade41113c NCBIGene:367 biolink:causes Orphanet:90797 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:644 infores:orphanet PMID:20301602 Assessed uuid:97833b61-d8a7-11f1-ae73-e4fade41113c NCBIGene:64072 biolink:contributes_to Orphanet:91347 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:13733 infores:orphanet PMID:28413019 Assessed uuid:97833b62-d8a7-11f1-ae73-e4fade41113c NCBIGene:221037 biolink:contributes_to Orphanet:91352 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12313 infores:orphanet PMID:24896186 Assessed uuid:97833b63-d8a7-11f1-ae73-e4fade41113c NCBIGene:2677 biolink:causes Orphanet:91135 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4247 infores:orphanet PMID:17110937 Assessed uuid:97833b64-d8a7-11f1-ae73-e4fade41113c NCBIGene:3861 biolink:causes Orphanet:79396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6416 infores:orphanet PMID:20301543 Assessed uuid:97833b65-d8a7-11f1-ae73-e4fade41113c NCBIGene:3852 biolink:causes Orphanet:79396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6442 infores:orphanet PMID:20301543 Assessed uuid:97833b66-d8a7-11f1-ae73-e4fade41113c NCBIGene:3861 biolink:causes Orphanet:79397 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6416 infores:orphanet PMID:16601668|PMID:20301543 Assessed uuid:97833b67-d8a7-11f1-ae73-e4fade41113c NCBIGene:3852 biolink:causes Orphanet:79397 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6442 infores:orphanet PMID:20301543 Assessed uuid:97833b68-d8a7-11f1-ae73-e4fade41113c NCBIGene:26154 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14637 infores:orphanet PMID:18284401|PMID:19262603|PMID:22257947 Assessed uuid:97833b69-d8a7-11f1-ae73-e4fade41113c NCBIGene:242 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:430 infores:orphanet PMID:16792775|PMID:18347291|PMID:12780701|PMID:20301593 Assessed uuid:97833b6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:59344 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13743 infores:orphanet PMID:12780701 Assessed uuid:97833b6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7051 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11777 infores:orphanet PMID:12780701 Assessed uuid:97833b6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:348938 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28018 infores:orphanet PMID:20016120 Assessed uuid:97833b6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:285848 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21246 infores:orphanet PMID:22246504 Assessed uuid:97833b6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:204219 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23752 infores:orphanet PMID:23549421 Assessed uuid:97833b6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6820 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11459 infores:orphanet PMID:28575648 Assessed uuid:97833b70-d8a7-11f1-ae73-e4fade41113c NCBIGene:121214 biolink:causes Orphanet:79394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29958 infores:orphanet PMID:28906551 Assessed uuid:97833b71-d8a7-11f1-ae73-e4fade41113c NCBIGene:4014 biolink:causes Orphanet:79395 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6663 infores:orphanet PMID:17953701|PMID:12072018 Assessed uuid:97833b72-d8a7-11f1-ae73-e4fade41113c NCBIGene:3265 biolink:causes Orphanet:79414 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5173 infores:orphanet PMID:24129065 Assessed uuid:97833b73-d8a7-11f1-ae73-e4fade41113c NCBIGene:3861 biolink:causes Orphanet:79399 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6416 infores:orphanet PMID:20301543 Assessed uuid:97833b74-d8a7-11f1-ae73-e4fade41113c NCBIGene:3852 biolink:causes Orphanet:79399 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6442 infores:orphanet PMID:20301543 Assessed uuid:97833b75-d8a7-11f1-ae73-e4fade41113c NCBIGene:5339 biolink:causes Orphanet:79401 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9069 infores:orphanet PMID:11851880 Assessed uuid:97833b76-d8a7-11f1-ae73-e4fade41113c NCBIGene:3861 biolink:causes Orphanet:79400 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6416 infores:orphanet PMID:20301543 Assessed uuid:97833b77-d8a7-11f1-ae73-e4fade41113c NCBIGene:3852 biolink:causes Orphanet:79400 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6442 infores:orphanet PMID:20301543 Assessed uuid:97833b78-d8a7-11f1-ae73-e4fade41113c NCBIGene:3655 biolink:causes Orphanet:79403 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6142 infores:orphanet PMID:9185503|PMID:20301336 Assessed uuid:97833b79-d8a7-11f1-ae73-e4fade41113c NCBIGene:3691 biolink:causes Orphanet:79403 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6158 infores:orphanet PMID:11328943|PMID:20301336 Assessed uuid:97833b7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1308 biolink:causes Orphanet:79402 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2194 infores:orphanet PMID:20301304 Assessed uuid:97833b7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3691 biolink:causes Orphanet:79402 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6158 infores:orphanet PMID:10792571|PMID:16473856|PMID:20301304 Assessed uuid:97833b7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3909 biolink:causes Orphanet:79402 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6483 infores:orphanet PMID:20301304 Assessed uuid:97833b7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3914 biolink:causes Orphanet:79402 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6490 infores:orphanet PMID:20301304 Assessed uuid:97833b7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3918 biolink:causes Orphanet:79402 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6493 infores:orphanet PMID:20301304 Assessed uuid:97833b7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3909 biolink:causes Orphanet:79404 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6483 infores:orphanet PMID:20301304 Assessed uuid:97833b80-d8a7-11f1-ae73-e4fade41113c NCBIGene:3914 biolink:causes Orphanet:79404 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6490 infores:orphanet PMID:20301304 Assessed uuid:97833b81-d8a7-11f1-ae73-e4fade41113c NCBIGene:3918 biolink:causes Orphanet:79404 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6493 infores:orphanet PMID:20301304 Assessed uuid:97833b82-d8a7-11f1-ae73-e4fade41113c NCBIGene:1308 biolink:causes Orphanet:79406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2194 infores:orphanet Assessed uuid:97833b83-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:79409 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:97833b84-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:79408 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:97833b85-d8a7-11f1-ae73-e4fade41113c NCBIGene:4312 biolink:gene_associated_with_condition Orphanet:79408 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:7155 infores:orphanet Not yet assessed uuid:97833b86-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:79411 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:97833b87-d8a7-11f1-ae73-e4fade41113c NCBIGene:1294 biolink:causes Orphanet:79410 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2214 infores:orphanet Assessed loss_of_function_variant_form uuid:97833b88-d8a7-11f1-ae73-e4fade41113c NCBIGene:2324 biolink:causes Orphanet:79452 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3767 infores:orphanet PMID:20301417 Assessed uuid:97833b89-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:79455 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6342 infores:orphanet PMID:18795925|PMID:19865100 Assessed uuid:97833b8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:51151 biolink:causes Orphanet:79435 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16472 infores:orphanet Assessed uuid:97833b8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7299 biolink:causes Orphanet:79434 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12442 infores:orphanet PMID:20301345 Assessed loss_of_function_variant_form uuid:97833b8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7306 biolink:causes Orphanet:79433 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12450 infores:orphanet Assessed uuid:97833b8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4948 biolink:causes Orphanet:79432 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8101 infores:orphanet Assessed uuid:97833b8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4157 biolink:contributes_to Orphanet:79432 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:6929 infores:orphanet PMID:12876664 Assessed uuid:97833b8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7299 biolink:causes Orphanet:79431 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12442 infores:orphanet PMID:20301345 Assessed loss_of_function_variant_form uuid:97833b90-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:79445 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4392 infores:orphanet Assessed loss_of_function_variant_form uuid:97833b91-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:79444 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4392 infores:orphanet Assessed uuid:97833b92-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:79443 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4392 infores:orphanet Assessed loss_of_function_variant_form uuid:97833b93-d8a7-11f1-ae73-e4fade41113c NCBIGene:2776 biolink:causes Orphanet:79483 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4390 infores:orphanet PMID:26778290 Assessed uuid:97833b94-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:79483 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4379 infores:orphanet PMID:26778290 Assessed uuid:97833b95-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:79484 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4379 infores:orphanet PMID:26778290 Assessed uuid:97833b96-d8a7-11f1-ae73-e4fade41113c NCBIGene:79083 biolink:causes Orphanet:79478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29643 infores:orphanet Assessed uuid:97833b97-d8a7-11f1-ae73-e4fade41113c NCBIGene:4644 biolink:causes Orphanet:79478 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7602 infores:orphanet PMID:12897212 Assessed uuid:97833b98-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:79474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:12927431|PMID:19270485 Assessed uuid:97833b99-d8a7-11f1-ae73-e4fade41113c NCBIGene:5873 biolink:causes Orphanet:79477 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9766 infores:orphanet Assessed uuid:97833b9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4644 biolink:causes Orphanet:79476 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7602 infores:orphanet Assessed uuid:97833b9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5498 biolink:causes Orphanet:79473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9280 infores:orphanet PMID:23409300 Assessed uuid:97833b9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6448 biolink:causes Orphanet:79269 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10818 infores:orphanet PMID:15146460 Assessed loss_of_function_variant_form uuid:97833b9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2720 biolink:causes Orphanet:79257 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4298 infores:orphanet PMID:24156116 Assessed uuid:97833b9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2720 biolink:causes Orphanet:79256 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4298 infores:orphanet PMID:24156116 Assessed uuid:97833b9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2720 biolink:causes Orphanet:79255 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4298 infores:orphanet PMID:24156116 Assessed uuid:97833ba0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2542 biolink:causes Orphanet:79259 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4061 infores:orphanet Assessed uuid:97833ba1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2538 biolink:causes Orphanet:79258 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4056 infores:orphanet Assessed uuid:97833ba2-d8a7-11f1-ae73-e4fade41113c NCBIGene:54704 biolink:causes Orphanet:79246 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9279 infores:orphanet PMID:15855260 Assessed loss_of_function_variant_form uuid:97833ba3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5257 biolink:causes Orphanet:79240 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8927 infores:orphanet Assessed uuid:97833ba4-d8a7-11f1-ae73-e4fade41113c NCBIGene:686 biolink:causes Orphanet:79241 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1122 infores:orphanet PMID:20301497 Assessed uuid:97833ba5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2592 biolink:causes Orphanet:79239 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4135 infores:orphanet PMID:20301691 Assessed uuid:97833ba6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1737 biolink:causes Orphanet:79244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2896 infores:orphanet PMID:16049940 Assessed loss_of_function_variant_form uuid:97833ba7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3141 biolink:causes Orphanet:79242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4976 infores:orphanet PMID:16134170 Assessed loss_of_function_variant_form uuid:97833ba8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5160 biolink:causes Orphanet:79243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8806 infores:orphanet PMID:10679936|PMID:15384102|PMID:20002461 Assessed uuid:97833ba9-d8a7-11f1-ae73-e4fade41113c NCBIGene:9361 biolink:causes Orphanet:79243 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9479 infores:orphanet PMID:30304514 Assessed uuid:97833baa-d8a7-11f1-ae73-e4fade41113c NCBIGene:2645 biolink:causes Orphanet:79299 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4195 infores:orphanet PMID:9435328|PMID:25733449 Assessed uuid:97833bab-d8a7-11f1-ae73-e4fade41113c NCBIGene:80270 biolink:causes Orphanet:79301 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18324 infores:orphanet PMID:12679481 Assessed uuid:97833bac-d8a7-11f1-ae73-e4fade41113c NCBIGene:3931 biolink:causes Orphanet:79293 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6522 infores:orphanet PMID:9162740 Assessed loss_of_function_variant_form uuid:97833bad-d8a7-11f1-ae73-e4fade41113c NCBIGene:3931 biolink:causes Orphanet:79292 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6522 infores:orphanet PMID:9162740 Assessed loss_of_function_variant_form uuid:97833bae-d8a7-11f1-ae73-e4fade41113c NCBIGene:2235 biolink:causes Orphanet:79278 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3647 infores:orphanet PMID:23016163 Assessed loss_of_function_variant_form uuid:97833baf-d8a7-11f1-ae73-e4fade41113c NCBIGene:4668 biolink:causes Orphanet:79279 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7631 infores:orphanet Assessed uuid:97833bb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4668 biolink:causes Orphanet:79280 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7631 infores:orphanet Assessed uuid:97833bb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4668 biolink:causes Orphanet:79281 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7631 infores:orphanet Assessed uuid:97833bb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:25974 biolink:causes Orphanet:79282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24525 infores:orphanet PMID:16311595|PMID:21497120 Assessed uuid:97833bb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:27249 biolink:causes Orphanet:79283 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25221 infores:orphanet PMID:20301409|PMID:20301503 Assessed uuid:97833bb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:55788 biolink:causes Orphanet:79284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23038 infores:orphanet PMID:20301503 Assessed uuid:97833bb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4669 biolink:causes Orphanet:79270 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7632 infores:orphanet PMID:16151907 Assessed loss_of_function_variant_form uuid:97833bb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:138050 biolink:causes Orphanet:79271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26527 infores:orphanet PMID:17033958 Assessed loss_of_function_variant_form uuid:97833bb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2799 biolink:causes Orphanet:79272 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4422 infores:orphanet PMID:12573255|PMID:17998446 Assessed loss_of_function_variant_form uuid:97833bb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1371 biolink:causes Orphanet:79273 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2321 infores:orphanet PMID:23236641 Assessed uuid:97833bb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3145 biolink:causes Orphanet:79276 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4982 infores:orphanet PMID:20301372 Assessed uuid:97833bba-d8a7-11f1-ae73-e4fade41113c NCBIGene:7390 biolink:causes Orphanet:79277 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12592 infores:orphanet PMID:24027798 Assessed loss_of_function_variant_form uuid:97833bbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:2623 biolink:causes Orphanet:79277 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4170 infores:orphanet PMID:24027798|PMID:17148589 Assessed uuid:97833bbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:91949 biolink:causes Orphanet:79333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18622 infores:orphanet PMID:20301507 Assessed uuid:97833bbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2683 biolink:causes Orphanet:79332 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:924 infores:orphanet PMID:20301507 Assessed uuid:97833bbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:7841 biolink:causes Orphanet:79330 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24862 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:4247 biolink:causes Orphanet:79329 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7045 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:79796 biolink:causes Orphanet:79328 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15672 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:56052 biolink:causes Orphanet:79327 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18294 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:85365 biolink:causes Orphanet:79326 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23159 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:79053 biolink:causes Orphanet:79325 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23161 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:79087 biolink:causes Orphanet:79324 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19358 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:9526 biolink:causes Orphanet:79323 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7207 infores:orphanet PMID:20301507 Assessed uuid:97833bc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:8813 biolink:causes Orphanet:79322 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3005 infores:orphanet PMID:20301507 Assessed uuid:97833bc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10195 biolink:causes Orphanet:79321 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23056 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:29929 biolink:causes Orphanet:79320 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23157 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833bc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4351 biolink:causes Orphanet:79319 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7216 infores:orphanet PMID:20301507 Assessed uuid:97833bca-d8a7-11f1-ae73-e4fade41113c NCBIGene:5373 biolink:causes Orphanet:79318 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9115 infores:orphanet PMID:20301289|PMID:20301507 Assessed uuid:97833bcb-d8a7-11f1-ae73-e4fade41113c NCBIGene:79944 biolink:causes Orphanet:79314 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20499 infores:orphanet PMID:20052767 Assessed uuid:97833bcc-d8a7-11f1-ae73-e4fade41113c NCBIGene:728294 biolink:causes Orphanet:79315 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28358 infores:orphanet PMID:20020533 Assessed uuid:97833bcd-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:causes Orphanet:79315 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:5383 infores:orphanet PMID:20847235 Assessed gain_of_function_variant_form uuid:97833bce-d8a7-11f1-ae73-e4fade41113c NCBIGene:4594 biolink:causes Orphanet:79312 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7526 infores:orphanet Assessed loss_of_function_variant_form uuid:97833bcf-d8a7-11f1-ae73-e4fade41113c NCBIGene:166785 biolink:causes Orphanet:79310 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18871 infores:orphanet Assessed uuid:97833bd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:326625 biolink:causes Orphanet:79311 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19331 infores:orphanet Assessed uuid:97833bd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5205 biolink:causes Orphanet:79306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3706 infores:orphanet PMID:20301474 Assessed uuid:97833bd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4645 biolink:causes Orphanet:79306 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7603 infores:orphanet PMID:27532546 Assessed uuid:97833bd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:8647 biolink:causes Orphanet:79304 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:42 infores:orphanet PMID:9806540|PMID:15791618 Assessed loss_of_function_variant_form uuid:97833bd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5244 biolink:causes Orphanet:79305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:45 infores:orphanet PMID:17726488|PMID:21119540 Assessed loss_of_function_variant_form uuid:97833bd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:9420 biolink:causes Orphanet:79302 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2652 infores:orphanet PMID:9802883 Assessed uuid:97833bd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6718 biolink:causes Orphanet:79303 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:388 infores:orphanet PMID:12970144 Assessed uuid:97833bd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:26227 biolink:causes Orphanet:79351 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8923 infores:orphanet PMID:11055895 Assessed uuid:97833bd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5723 biolink:causes Orphanet:79350 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9577 infores:orphanet PMID:14673469 Assessed uuid:97833bd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:415 biolink:causes Orphanet:79345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:719 infores:orphanet PMID:20301713 Assessed uuid:97833bda-d8a7-11f1-ae73-e4fade41113c NCBIGene:64135 biolink:causes Orphanet:85191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:18873 infores:orphanet PMID:25620204 Assessed gain_of_function_variant_form uuid:97833bdb-d8a7-11f1-ae73-e4fade41113c NCBIGene:23586 biolink:causes Orphanet:85191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19102 infores:orphanet PMID:25620203 Assessed uuid:97833bdc-d8a7-11f1-ae73-e4fade41113c NCBIGene:89780 biolink:contributes_to Orphanet:85193 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15983 infores:orphanet PMID:22789636 Assessed uuid:97833bdd-d8a7-11f1-ae73-e4fade41113c NCBIGene:22943 biolink:contributes_to Orphanet:85193 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2891 infores:orphanet PMID:22789636 Assessed uuid:97833bde-d8a7-11f1-ae73-e4fade41113c NCBIGene:7471 biolink:contributes_to Orphanet:85193 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12774 infores:orphanet PMID:23499309 Assessed uuid:97833bdf-d8a7-11f1-ae73-e4fade41113c NCBIGene:8792 biolink:causes Orphanet:85195 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11908 infores:orphanet PMID:10615125 Assessed uuid:97833be0-d8a7-11f1-ae73-e4fade41113c NCBIGene:64132 biolink:causes Orphanet:85194 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15517 infores:orphanet PMID:26027496 Assessed loss_of_function_variant_form uuid:97833be1-d8a7-11f1-ae73-e4fade41113c NCBIGene:267010 biolink:causes Orphanet:85199 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19380 infores:orphanet PMID:34085356 Assessed uuid:97833be2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:85198 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:22570642|PMID:26250472 Assessed uuid:97833be3-d8a7-11f1-ae73-e4fade41113c NCBIGene:23522 biolink:causes Orphanet:85201 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17582 infores:orphanet PMID:23236640|PMID:22265017|PMID:22265014 Assessed uuid:97833be4-d8a7-11f1-ae73-e4fade41113c NCBIGene:4256 biolink:causes Orphanet:85202 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7060 infores:orphanet PMID:9916809|PMID:15810001 Assessed loss_of_function_variant_form uuid:97833be5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2629 biolink:causes Orphanet:85212 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4177 infores:orphanet PMID:20946052|PMID:20301446 Assessed uuid:97833be6-d8a7-11f1-ae73-e4fade41113c NCBIGene:340533 biolink:causes Orphanet:85277 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29433 infores:orphanet PMID:23615299 Assessed loss_of_function_variant_form uuid:97833be7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10479 biolink:causes Orphanet:85278 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11079 infores:orphanet PMID:18342287 Assessed uuid:97833be8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8242 biolink:causes Orphanet:85279 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11114 infores:orphanet PMID:15586325 Assessed uuid:97833be9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1968 biolink:causes Orphanet:85282 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3267 infores:orphanet PMID:28055140 Assessed uuid:97833bea-d8a7-11f1-ae73-e4fade41113c NCBIGene:51360 biolink:causes Orphanet:85284 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15455 infores:orphanet PMID:22105905 Assessed uuid:97833beb-d8a7-11f1-ae73-e4fade41113c NCBIGene:27316 biolink:causes Orphanet:85286 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9910 infores:orphanet PMID:25256757|PMID:34260915 Assessed uuid:97833bec-d8a7-11f1-ae73-e4fade41113c NCBIGene:23133 biolink:causes Orphanet:85287 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20672 infores:orphanet PMID:17661819 Assessed uuid:97833bed-d8a7-11f1-ae73-e4fade41113c NCBIGene:57477 biolink:causes Orphanet:85288 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29215 infores:orphanet PMID:16249884 Assessed uuid:97833bee-d8a7-11f1-ae73-e4fade41113c NCBIGene:8450 biolink:causes Orphanet:85293 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2555 infores:orphanet PMID:17236139|PMID:2000245 Assessed uuid:97833bef-d8a7-11f1-ae73-e4fade41113c NCBIGene:3028 biolink:causes Orphanet:85295 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4800 infores:orphanet PMID:22127393 Assessed uuid:97833bf0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6853 biolink:causes Orphanet:85294 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11494 infores:orphanet PMID:14985377 Assessed uuid:97833bf1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8905 biolink:causes Orphanet:85329 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:560 infores:orphanet PMID:17186471|PMID:12599187 Assessed uuid:97833bf2-d8a7-11f1-ae73-e4fade41113c NCBIGene:8905 biolink:causes Orphanet:85335 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:560 infores:orphanet PMID:17617514 Assessed uuid:97833bf3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3559 biolink:contributes_to Orphanet:85410 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6008 infores:orphanet PMID:22294642 Assessed uuid:97833bf4-d8a7-11f1-ae73-e4fade41113c NCBIGene:919 biolink:contributes_to Orphanet:85410 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1677 infores:orphanet PMID:22294642 Assessed uuid:97833bf5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5771 biolink:contributes_to Orphanet:85410 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9650 infores:orphanet PMID:22294642 Assessed uuid:97833bf6-d8a7-11f1-ae73-e4fade41113c NCBIGene:26191 biolink:contributes_to Orphanet:85410 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9652 infores:orphanet PMID:23603761 Assessed uuid:97833bf7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6775 biolink:contributes_to Orphanet:85410 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11365 infores:orphanet PMID:23603761 Assessed uuid:97833bf8-d8a7-11f1-ae73-e4fade41113c NCBIGene:79722 biolink:gene_associated_with_condition Orphanet:85410 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25681 infores:orphanet PMID:23603761 Not yet assessed uuid:97833bf9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3560 biolink:gene_associated_with_condition Orphanet:85410 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6009 infores:orphanet PMID:23603761 Not yet assessed uuid:97833bfa-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:gene_associated_with_condition Orphanet:85414 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:26598658 Not yet assessed uuid:97833bfb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4282 biolink:gene_associated_with_condition Orphanet:85414 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7097 infores:orphanet Not yet assessed uuid:97833bfc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3569 biolink:gene_associated_with_condition Orphanet:85414 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6018 infores:orphanet Not yet assessed uuid:97833bfd-d8a7-11f1-ae73-e4fade41113c NCBIGene:144811 biolink:causes Orphanet:85414 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26789 infores:orphanet PMID:25220867 Assessed uuid:97833bfe-d8a7-11f1-ae73-e4fade41113c NCBIGene:3559 biolink:contributes_to Orphanet:85408 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6008 infores:orphanet PMID:22294642 Assessed uuid:97833bff-d8a7-11f1-ae73-e4fade41113c NCBIGene:919 biolink:contributes_to Orphanet:85408 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1677 infores:orphanet PMID:22294642 Assessed uuid:97833c00-d8a7-11f1-ae73-e4fade41113c NCBIGene:5771 biolink:contributes_to Orphanet:85408 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9650 infores:orphanet PMID:22294642 Assessed uuid:97833c01-d8a7-11f1-ae73-e4fade41113c NCBIGene:26191 biolink:contributes_to Orphanet:85408 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9652 infores:orphanet PMID:23603761 Assessed uuid:97833c02-d8a7-11f1-ae73-e4fade41113c NCBIGene:6775 biolink:contributes_to Orphanet:85408 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11365 infores:orphanet PMID:23603761 Assessed uuid:97833c03-d8a7-11f1-ae73-e4fade41113c NCBIGene:79722 biolink:gene_associated_with_condition Orphanet:85408 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25681 infores:orphanet PMID:23603761 Not yet assessed uuid:97833c04-d8a7-11f1-ae73-e4fade41113c NCBIGene:3560 biolink:gene_associated_with_condition Orphanet:85408 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6009 infores:orphanet PMID:23603761 Not yet assessed uuid:97833c05-d8a7-11f1-ae73-e4fade41113c NCBIGene:89884 biolink:causes Orphanet:85442 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21734 infores:orphanet PMID:11567216 Assessed uuid:97833c06-d8a7-11f1-ae73-e4fade41113c NCBIGene:6288 biolink:contributes_to Orphanet:85445 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10513 infores:orphanet PMID:16118480|PMID:16874691|PMID:16219644|PMID:18369528 Assessed uuid:97833c07-d8a7-11f1-ae73-e4fade41113c NCBIGene:5422 biolink:causes Orphanet:85453 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9173 infores:orphanet PMID:27019227 Assessed loss_of_function_variant_form uuid:97833c08-d8a7-11f1-ae73-e4fade41113c NCBIGene:7454 biolink:causes Orphanet:86788 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12731 infores:orphanet PMID:11242115 Assessed uuid:97833c09-d8a7-11f1-ae73-e4fade41113c NCBIGene:1798 biolink:causes Orphanet:86309 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2995 infores:orphanet PMID:20301507 Assessed loss_of_function_variant_form uuid:97833c0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2934 biolink:causes Orphanet:85448 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4620 infores:orphanet PMID:16258946|PMID:22068858|PMID:22622774 Assessed uuid:97833c0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7276 biolink:causes Orphanet:85447 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12405 infores:orphanet PMID:18925456 Assessed uuid:97833c0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7276 biolink:causes Orphanet:85451 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12405 infores:orphanet PMID:11752443|PMID:25551524 Assessed uuid:97833c0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10585 biolink:causes Orphanet:86812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9202 infores:orphanet PMID:20301582 Assessed uuid:97833c0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7003 biolink:causes Orphanet:86813 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11714 infores:orphanet PMID:15016762 Assessed uuid:97833c0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1501 biolink:causes Orphanet:86814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2516 infores:orphanet PMID:29127138 Assessed uuid:97833c10-d8a7-11f1-ae73-e4fade41113c NCBIGene:6900 biolink:causes Orphanet:86814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2172 infores:orphanet PMID:23518707 Assessed uuid:97833c11-d8a7-11f1-ae73-e4fade41113c NCBIGene:151 biolink:causes Orphanet:86814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:282 infores:orphanet PMID:24114805 Assessed gain_of_function_variant_form uuid:97833c12-d8a7-11f1-ae73-e4fade41113c NCBIGene:401474 biolink:causes Orphanet:86814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31750 infores:orphanet PMID:29939203 Assessed uuid:97833c13-d8a7-11f1-ae73-e4fade41113c NCBIGene:55689 biolink:causes Orphanet:86814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25489 infores:orphanet PMID:31539032 Assessed uuid:97833c14-d8a7-11f1-ae73-e4fade41113c NCBIGene:10299 biolink:causes Orphanet:86814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30550 infores:orphanet PMID:31664039 Assessed uuid:97833c15-d8a7-11f1-ae73-e4fade41113c NCBIGene:9693 biolink:causes Orphanet:86814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16854 infores:orphanet PMID:29507423 Assessed uuid:97833c16-d8a7-11f1-ae73-e4fade41113c NCBIGene:27327 biolink:causes Orphanet:86814 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11969 infores:orphanet PMID:29507423|PMID:33040085 Assessed uuid:97833c17-d8a7-11f1-ae73-e4fade41113c NCBIGene:2255 biolink:causes Orphanet:86815 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3666 infores:orphanet PMID:17213838 Assessed uuid:97833c18-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:86820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:15930420 Assessed uuid:97833c19-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:86820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:18083 infores:orphanet PMID:27330106 Assessed gain_of_function_variant_form uuid:97833c1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:213 biolink:causes Orphanet:86816 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:399 infores:orphanet PMID:7937781|PMID:15996651 Assessed uuid:97833c1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6774 biolink:causes Orphanet:512017 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11364 infores:orphanet PMID:29385279 Assessed uuid:97833c1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:203 biolink:causes Orphanet:86817 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:361 infores:orphanet PMID:9432020|PMID:10233365 Assessed uuid:97833c1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2182 biolink:gene_associated_with_condition Orphanet:86818 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3571 infores:orphanet PMID:11889465|PMID:9598718 Assessed uuid:97833c1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:9949 biolink:gene_associated_with_condition Orphanet:86818 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:467 infores:orphanet PMID:10049589|PMID:27811305 Assessed uuid:97833c1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23630 biolink:gene_associated_with_condition Orphanet:86818 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6241 infores:orphanet PMID:12011158 Assessed uuid:97833c20-d8a7-11f1-ae73-e4fade41113c NCBIGene:55806 biolink:causes Orphanet:86819 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5172 infores:orphanet PMID:18709303 Assessed uuid:97833c21-d8a7-11f1-ae73-e4fade41113c NCBIGene:6208 biolink:gene_associated_with_condition Orphanet:86841 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:10387 infores:orphanet PMID:22571696 Assessed uuid:97833c22-d8a7-11f1-ae73-e4fade41113c NCBIGene:3858 biolink:causes Orphanet:512103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6413 infores:orphanet PMID:21271994|PMID:23957016 Assessed uuid:97833c23-d8a7-11f1-ae73-e4fade41113c NCBIGene:5781 biolink:causes Orphanet:86834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:9644 infores:orphanet PMID:19571318|PMID:21930766|PMID:20139388|PMID:23832011 Assessed uuid:97833c24-d8a7-11f1-ae73-e4fade41113c NCBIGene:3845 biolink:causes Orphanet:86834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6407 infores:orphanet PMID:20139388|PMID:23832011 Assessed uuid:97833c25-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:causes Orphanet:86834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7765 infores:orphanet PMID:19571318|PMID:20139388|PMID:23832011 Assessed uuid:97833c26-d8a7-11f1-ae73-e4fade41113c NCBIGene:4893 biolink:causes Orphanet:86834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7989 infores:orphanet PMID:20139388|PMID:22753870|PMID:23832011 Assessed uuid:97833c27-d8a7-11f1-ae73-e4fade41113c NCBIGene:867 biolink:gene_associated_with_condition Orphanet:86834 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1541 infores:orphanet PMID:23832011 Not yet assessed uuid:97833c28-d8a7-11f1-ae73-e4fade41113c NCBIGene:6237 biolink:gene_associated_with_condition Orphanet:86834 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10447 infores:orphanet PMID:24705357 Not yet assessed uuid:97833c29-d8a7-11f1-ae73-e4fade41113c NCBIGene:5159 biolink:gene_associated_with_condition Orphanet:86830 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8804 infores:orphanet PMID:17296564 Assessed uuid:97833c2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1441 biolink:causes Orphanet:86829 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:2439 infores:orphanet PMID:23656643 Assessed uuid:97833c2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:267010 biolink:causes Orphanet:512260 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19380 infores:orphanet PMID:27863452 Assessed uuid:97833c2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2623 biolink:gene_associated_with_condition Orphanet:86849 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4170 infores:orphanet PMID:21474671 Assessed uuid:97833c2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4602 biolink:gene_associated_with_condition Orphanet:86849 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7545 infores:orphanet PMID:21474671 Assessed uuid:97833c2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3418 biolink:causes Orphanet:86845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5383 infores:orphanet PMID:28297624 Assessed uuid:97833c2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:gene_associated_with_condition Orphanet:86845 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:25941 infores:orphanet PMID:19557078 Not yet assessed uuid:97833c30-d8a7-11f1-ae73-e4fade41113c NCBIGene:171023 biolink:causes Orphanet:86845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:18318 infores:orphanet PMID:28297624 Assessed uuid:97833c31-d8a7-11f1-ae73-e4fade41113c NCBIGene:3417 biolink:causes Orphanet:86845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5382 infores:orphanet PMID:28297624 Assessed uuid:97833c32-d8a7-11f1-ae73-e4fade41113c NCBIGene:1788 biolink:causes Orphanet:86845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:2978 infores:orphanet PMID:28297624 Assessed uuid:97833c33-d8a7-11f1-ae73-e4fade41113c NCBIGene:6774 biolink:causes Orphanet:86872 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11364 infores:orphanet PMID:29385279|PMID:26980727 Assessed uuid:97833c34-d8a7-11f1-ae73-e4fade41113c NCBIGene:84868 biolink:causes Orphanet:86884 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18437 infores:orphanet PMID:30374066 Assessed uuid:97833c35-d8a7-11f1-ae73-e4fade41113c NCBIGene:3848 biolink:causes Orphanet:79503 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6412 infores:orphanet Assessed uuid:97833c36-d8a7-11f1-ae73-e4fade41113c NCBIGene:6658 biolink:causes Orphanet:79495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11199 infores:orphanet PMID:21636067 Assessed uuid:97833c37-d8a7-11f1-ae73-e4fade41113c NCBIGene:526 biolink:causes Orphanet:79499 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:854 infores:orphanet PMID:24913193 Assessed uuid:97833c38-d8a7-11f1-ae73-e4fade41113c NCBIGene:57465 biolink:causes Orphanet:79500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29203 infores:orphanet PMID:24291220 Assessed uuid:97833c39-d8a7-11f1-ae73-e4fade41113c NCBIGene:526 biolink:causes Orphanet:79500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:854 infores:orphanet PMID:32873933 Assessed uuid:97833c3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7373 biolink:gene_associated_with_condition Orphanet:79501 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2191 infores:orphanet PMID:22972947 Not yet assessed uuid:97833c3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79719 biolink:causes Orphanet:79501 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25662 infores:orphanet PMID:23000146|PMID:23064416 Assessed loss_of_function_variant_form uuid:97833c3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6833 biolink:causes Orphanet:79643 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:59 infores:orphanet PMID:15562009|PMID:25733449 Assessed uuid:97833c3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3767 biolink:causes Orphanet:79644 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6257 infores:orphanet PMID:8923010|PMID:25733449 Assessed uuid:97833c3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6607 biolink:contributes_to Orphanet:83330 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11118 infores:orphanet PMID:20301526 Assessed uuid:97833c3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4671 biolink:contributes_to Orphanet:83330 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:7634 infores:orphanet PMID:11912351 Assessed uuid:97833c40-d8a7-11f1-ae73-e4fade41113c NCBIGene:6606 biolink:causes Orphanet:83330 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11117 infores:orphanet PMID:20301526 Assessed uuid:97833c41-d8a7-11f1-ae73-e4fade41113c NCBIGene:6607 biolink:contributes_to Orphanet:83419 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11118 infores:orphanet PMID:20301526 Assessed uuid:97833c42-d8a7-11f1-ae73-e4fade41113c NCBIGene:4671 biolink:contributes_to Orphanet:83419 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:7634 infores:orphanet PMID:11912351 Assessed uuid:97833c43-d8a7-11f1-ae73-e4fade41113c NCBIGene:6606 biolink:causes Orphanet:83419 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11117 infores:orphanet PMID:20301526 Assessed uuid:97833c44-d8a7-11f1-ae73-e4fade41113c NCBIGene:6607 biolink:contributes_to Orphanet:83420 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11118 infores:orphanet PMID:20301526 Assessed uuid:97833c45-d8a7-11f1-ae73-e4fade41113c NCBIGene:6606 biolink:causes Orphanet:83420 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11117 infores:orphanet PMID:20301526 Assessed uuid:97833c46-d8a7-11f1-ae73-e4fade41113c NCBIGene:6607 biolink:contributes_to Orphanet:83418 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:11118 infores:orphanet PMID:20301526 Assessed uuid:97833c47-d8a7-11f1-ae73-e4fade41113c NCBIGene:4671 biolink:contributes_to Orphanet:83418 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:7634 infores:orphanet PMID:11912351 Assessed uuid:97833c48-d8a7-11f1-ae73-e4fade41113c NCBIGene:6606 biolink:causes Orphanet:83418 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11117 infores:orphanet PMID:20301526 Assessed uuid:97833c49-d8a7-11f1-ae73-e4fade41113c NCBIGene:7490 biolink:gene_associated_with_condition Orphanet:83469 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12796 infores:orphanet Assessed uuid:97833c4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2130 biolink:gene_associated_with_condition Orphanet:83469 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3508 infores:orphanet Assessed uuid:97833c4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3060 biolink:gene_associated_with_condition Orphanet:83465 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4847 infores:orphanet PMID:10973318|PMID:23643651 Not yet assessed uuid:97833c4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3123 biolink:contributes_to Orphanet:83465 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4948 infores:orphanet PMID:18706091|PMID:19410508 Assessed uuid:97833c4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3119 biolink:contributes_to Orphanet:83465 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4944 infores:orphanet PMID:18706091|PMID:21345702 Assessed uuid:97833c4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:22891 biolink:contributes_to Orphanet:83465 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:18194 infores:orphanet PMID:24204295 Assessed uuid:97833c4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:5296 biolink:causes Orphanet:83473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8980 infores:orphanet PMID:22729224 Assessed uuid:97833c50-d8a7-11f1-ae73-e4fade41113c NCBIGene:5296 biolink:causes Orphanet:83473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8980 infores:orphanet PMID:26520804 Assessed uuid:97833c51-d8a7-11f1-ae73-e4fade41113c NCBIGene:894 biolink:causes Orphanet:83473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1583 infores:orphanet PMID:24705253 Assessed gain_of_function_variant_form uuid:97833c52-d8a7-11f1-ae73-e4fade41113c NCBIGene:10000 biolink:causes Orphanet:83473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:393 infores:orphanet PMID:22729224 Assessed uuid:97833c53-d8a7-11f1-ae73-e4fade41113c NCBIGene:9640 biolink:gene_associated_with_condition Orphanet:83472 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:28986 infores:orphanet PMID:20531441|PMID:26123727 Not yet assessed uuid:97833c54-d8a7-11f1-ae73-e4fade41113c NCBIGene:84942 biolink:causes Orphanet:83472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25928 infores:orphanet PMID:26123727 Assessed uuid:97833c55-d8a7-11f1-ae73-e4fade41113c NCBIGene:8456 biolink:gene_associated_with_condition Orphanet:83471 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12765 infores:orphanet PMID:31566583 Not yet assessed uuid:97833c56-d8a7-11f1-ae73-e4fade41113c NCBIGene:3199 biolink:causes Orphanet:83463 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5103 infores:orphanet PMID:23775976 Assessed uuid:97833c57-d8a7-11f1-ae73-e4fade41113c NCBIGene:2301 biolink:causes Orphanet:83461 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3808 infores:orphanet PMID:16826526 Assessed uuid:97833c58-d8a7-11f1-ae73-e4fade41113c NCBIGene:11146 biolink:causes Orphanet:83454 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14373 infores:orphanet PMID:11845407|PMID:22092580 Assessed uuid:97833c59-d8a7-11f1-ae73-e4fade41113c NCBIGene:50674 biolink:causes Orphanet:83620 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13806 infores:orphanet PMID:16855267 Assessed loss_of_function_variant_form uuid:97833c5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:91147 biolink:causes Orphanet:84081 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28396 infores:orphanet PMID:19508969 Assessed uuid:97833c5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:51473 biolink:causes Orphanet:84081 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18141 infores:orphanet PMID:25557784 Assessed uuid:97833c5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2335 biolink:causes Orphanet:84090 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3778 infores:orphanet PMID:18268355 Assessed uuid:97833c5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:9652 biolink:causes Orphanet:84064 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23639 infores:orphanet PMID:23302111|PMID:20176027 Assessed uuid:97833c5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6499 biolink:causes Orphanet:84064 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10898 infores:orphanet PMID:22444670|PMID:23302111 Assessed uuid:97833c5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23400 biolink:causes Orphanet:513436 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30213 infores:orphanet PMID:28137957|PMID:29112700|PMID:27217339 Assessed uuid:97833c60-d8a7-11f1-ae73-e4fade41113c NCBIGene:93183 biolink:causes Orphanet:83639 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18858 infores:orphanet PMID:16767100 Assessed uuid:97833c61-d8a7-11f1-ae73-e4fade41113c NCBIGene:284098 biolink:causes Orphanet:83639 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23213 infores:orphanet PMID:27626616 Assessed uuid:97833c62-d8a7-11f1-ae73-e4fade41113c NCBIGene:80232 biolink:causes Orphanet:513456 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21208 infores:orphanet PMID:28686853 Assessed loss_of_function_variant_form uuid:97833c63-d8a7-11f1-ae73-e4fade41113c NCBIGene:9131 biolink:causes Orphanet:83629 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8768 infores:orphanet PMID:27102849 Assessed uuid:97833c64-d8a7-11f1-ae73-e4fade41113c NCBIGene:4891 biolink:causes Orphanet:83642 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10908 infores:orphanet PMID:16160008|PMID:16439678 Assessed uuid:97833c65-d8a7-11f1-ae73-e4fade41113c NCBIGene:84668 biolink:causes Orphanet:85163 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24587 infores:orphanet PMID:20301737|PMID:16951682 Assessed uuid:97833c66-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:85164 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3690 infores:orphanet PMID:17033969|PMID:24864036 Assessed loss_of_function_variant_form uuid:97833c67-d8a7-11f1-ae73-e4fade41113c NCBIGene:1674 biolink:causes Orphanet:85146 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2770 infores:orphanet PMID:17439987 Assessed uuid:97833c68-d8a7-11f1-ae73-e4fade41113c NCBIGene:6017 biolink:causes Orphanet:85128 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10024 infores:orphanet PMID:10102298 Assessed loss_of_function_variant_form uuid:97833c69-d8a7-11f1-ae73-e4fade41113c NCBIGene:8635 biolink:causes Orphanet:85136 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21686 infores:orphanet PMID:19525954 Assessed uuid:97833c6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4695 biolink:causes Orphanet:85136 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7685 infores:orphanet PMID:28857146 Assessed loss_of_function_variant_form uuid:97833c6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:284654 biolink:causes Orphanet:85112 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21679 infores:orphanet PMID:17041600 Assessed uuid:97833c6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:57190 biolink:causes Orphanet:84132 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15999 infores:orphanet PMID:15122708 Assessed uuid:97833c6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4507 biolink:causes Orphanet:85182 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7413 infores:orphanet Assessed uuid:97833c6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:118426 biolink:causes Orphanet:85179 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17950 infores:orphanet PMID:40621786 Assessed uuid:97833c6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1028 biolink:causes Orphanet:85173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1786 infores:orphanet PMID:22634751 Assessed uuid:97833c70-d8a7-11f1-ae73-e4fade41113c NCBIGene:5426 biolink:causes Orphanet:85173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9177 infores:orphanet PMID:30503519 Assessed loss_of_function_variant_form uuid:97833c71-d8a7-11f1-ae73-e4fade41113c NCBIGene:25839 biolink:causes Orphanet:85172 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18620 infores:orphanet PMID:30290151 Assessed uuid:97833c72-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:85169 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18083 infores:orphanet PMID:21964574|PMID:24830047 Assessed loss_of_function_variant_form uuid:97833c73-d8a7-11f1-ae73-e4fade41113c NCBIGene:5130 biolink:causes Orphanet:85167 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8754 infores:orphanet PMID:24387990|PMID:24387991 Assessed loss_of_function_variant_form uuid:97833c74-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:85166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:15643621 Assessed uuid:97833c75-d8a7-11f1-ae73-e4fade41113c NCBIGene:2261 biolink:causes Orphanet:85165 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3690 infores:orphanet PMID:10053006|PMID:18076102 Assessed uuid:97833c76-d8a7-11f1-ae73-e4fade41113c NCBIGene:27183 biolink:causes Orphanet:603448 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13488 infores:orphanet PMID:33186545 Assessed loss_of_function_variant_form uuid:97833c77-d8a7-11f1-ae73-e4fade41113c NCBIGene:55975 biolink:causes Orphanet:603689 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15646 infores:orphanet PMID:29074562 Assessed uuid:97833c78-d8a7-11f1-ae73-e4fade41113c NCBIGene:55975 biolink:causes Orphanet:603684 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15646 infores:orphanet PMID:29074562 Assessed uuid:97833c79-d8a7-11f1-ae73-e4fade41113c NCBIGene:55975 biolink:causes Orphanet:603694 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15646 infores:orphanet PMID:29074562 Assessed uuid:97833c7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1185 biolink:causes Orphanet:610573 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2024 infores:orphanet PMID:33217309 Assessed uuid:97833c7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:84162 biolink:causes Orphanet:610569 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26953 infores:orphanet PMID:29290337 Assessed loss_of_function_variant_form uuid:97833c7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4534 biolink:causes Orphanet:604680 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7448 infores:orphanet PMID:15883335 Assessed uuid:97833c7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:80347 biolink:causes Orphanet:611256 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29932 infores:orphanet PMID:30089828|PMID:36495139 Assessed uuid:97833c7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6650 biolink:causes Orphanet:611201 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11182 infores:orphanet PMID:32885237 Assessed uuid:97833c7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8812 biolink:causes Orphanet:600668 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1596 infores:orphanet PMID:30122539 Assessed uuid:97833c80-d8a7-11f1-ae73-e4fade41113c NCBIGene:9378 biolink:causes Orphanet:600663 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8008 infores:orphanet PMID:25408897 Assessed uuid:97833c81-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:97244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet PMID:25182138 Assessed uuid:97833c82-d8a7-11f1-ae73-e4fade41113c NCBIGene:57190 biolink:causes Orphanet:97244 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15999 infores:orphanet PMID:20301468|PMID:11528383 Assessed uuid:97833c83-d8a7-11f1-ae73-e4fade41113c NCBIGene:27445 biolink:causes Orphanet:97249 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13406 infores:orphanet PMID:25832664 Assessed uuid:97833c84-d8a7-11f1-ae73-e4fade41113c NCBIGene:4221 biolink:contributes_to Orphanet:97279 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7010 infores:orphanet PMID:26307114 Assessed uuid:97833c85-d8a7-11f1-ae73-e4fade41113c NCBIGene:7528 biolink:causes Orphanet:97279 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12856 infores:orphanet PMID:24326773 Assessed uuid:97833c86-d8a7-11f1-ae73-e4fade41113c NCBIGene:6389 biolink:causes Orphanet:97286 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10680 infores:orphanet PMID:31413764|PMID:23282968 Assessed uuid:97833c87-d8a7-11f1-ae73-e4fade41113c NCBIGene:6390 biolink:causes Orphanet:97286 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10681 infores:orphanet PMID:17667967 Assessed loss_of_function_variant_form uuid:97833c88-d8a7-11f1-ae73-e4fade41113c NCBIGene:6391 biolink:causes Orphanet:97286 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10682 infores:orphanet PMID:17667967 Assessed loss_of_function_variant_form uuid:97833c89-d8a7-11f1-ae73-e4fade41113c NCBIGene:6392 biolink:causes Orphanet:97286 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10683 infores:orphanet PMID:17667967 Assessed loss_of_function_variant_form uuid:97833c8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:171023 biolink:causes Orphanet:97297 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18318 infores:orphanet PMID:21706002 Assessed uuid:97833c8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2130 biolink:gene_associated_with_condition Orphanet:97338 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3508 infores:orphanet PMID:19561568 Assessed uuid:97833c8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:466 biolink:gene_associated_with_condition Orphanet:97338 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:783 infores:orphanet PMID:19561568 Assessed uuid:97833c8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1385 biolink:gene_associated_with_condition Orphanet:97338 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2345 infores:orphanet PMID:19561568 Assessed uuid:97833c8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:9445 biolink:causes Orphanet:97346 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6174 infores:orphanet PMID:10781099 Assessed uuid:97833c8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:9445 biolink:causes Orphanet:97345 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6174 infores:orphanet PMID:10391242 Assessed uuid:97833c90-d8a7-11f1-ae73-e4fade41113c NCBIGene:5076 biolink:contributes_to Orphanet:97362 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:8616 infores:orphanet PMID:11461952|PMID:23539225|PMID:22138676|PMID:17513325 Assessed uuid:97833c91-d8a7-11f1-ae73-e4fade41113c NCBIGene:5087 biolink:gene_associated_with_condition Orphanet:97362 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:8632 infores:orphanet PMID:28270404 Assessed uuid:97833c92-d8a7-11f1-ae73-e4fade41113c NCBIGene:6928 biolink:causes Orphanet:97363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11630 infores:orphanet PMID:20155289|PMID:23725647 Assessed uuid:97833c93-d8a7-11f1-ae73-e4fade41113c NCBIGene:6928 biolink:causes Orphanet:97364 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11630 infores:orphanet PMID:20155289|PMID:23725647 Assessed uuid:97833c94-d8a7-11f1-ae73-e4fade41113c NCBIGene:1636 biolink:causes Orphanet:97369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2707 infores:orphanet PMID:16116425|PMID:22095942 Assessed uuid:97833c95-d8a7-11f1-ae73-e4fade41113c NCBIGene:183 biolink:causes Orphanet:97369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:333 infores:orphanet PMID:16116425|PMID:22095942 Assessed uuid:97833c96-d8a7-11f1-ae73-e4fade41113c NCBIGene:5972 biolink:causes Orphanet:97369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9958 infores:orphanet PMID:16116425|PMID:22095942 Assessed uuid:97833c97-d8a7-11f1-ae73-e4fade41113c NCBIGene:185 biolink:causes Orphanet:97369 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:336 infores:orphanet PMID:16116425|PMID:22095942 Assessed uuid:97833c98-d8a7-11f1-ae73-e4fade41113c NCBIGene:2657 biolink:causes Orphanet:97548 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4214 infores:orphanet PMID:20413652 Assessed uuid:97833c99-d8a7-11f1-ae73-e4fade41113c NCBIGene:2887 biolink:gene_associated_with_condition Orphanet:96182 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4564 infores:orphanet PMID:31100449 Assessed uuid:97833c9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57061 biolink:gene_associated_with_condition Orphanet:96191 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5326 infores:orphanet Not yet assessed uuid:97833c9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5325 biolink:gene_associated_with_condition Orphanet:96191 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9046 infores:orphanet Not yet assessed uuid:97833c9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:55384 biolink:gene_associated_with_condition Orphanet:96184 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14575 infores:orphanet PMID:18176563|PMID:24801763 Assessed uuid:97833c9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:388015 biolink:gene_associated_with_condition Orphanet:96184 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14665 infores:orphanet PMID:18176563 Assessed uuid:97833c9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8788 biolink:gene_associated_with_condition Orphanet:96184 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2907 infores:orphanet PMID:18176563 Assessed uuid:97833c9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:546 biolink:causes Orphanet:96253 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:886 infores:orphanet PMID:33106857 Assessed uuid:97833ca0-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:96253 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:30093687 Assessed uuid:97833ca1-d8a7-11f1-ae73-e4fade41113c NCBIGene:64072 biolink:contributes_to Orphanet:96253 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:13733 infores:orphanet PMID:28413019 Assessed uuid:97833ca2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:96253 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11998 infores:orphanet PMID:35596671|PMID:33221858 Assessed uuid:97833ca3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2908 biolink:causes Orphanet:96253 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7978 infores:orphanet PMID:34427636 Assessed uuid:97833ca4-d8a7-11f1-ae73-e4fade41113c NCBIGene:9101 biolink:causes Orphanet:96253 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12631 infores:orphanet PMID:25485838 Assessed uuid:97833ca5-d8a7-11f1-ae73-e4fade41113c NCBIGene:84196 biolink:causes Orphanet:96253 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:18533 infores:orphanet PMID:30093687 Assessed uuid:97833ca6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3973 biolink:causes Orphanet:96266 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6585 infores:orphanet Assessed loss_of_function_variant_form uuid:97833ca7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3973 biolink:causes Orphanet:96265 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6585 infores:orphanet Assessed loss_of_function_variant_form uuid:97833ca8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55384 biolink:gene_associated_with_condition Orphanet:96334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14575 infores:orphanet PMID:18176563|PMID:24801763 Assessed uuid:97833ca9-d8a7-11f1-ae73-e4fade41113c NCBIGene:388015 biolink:gene_associated_with_condition Orphanet:96334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14665 infores:orphanet PMID:18176563 Assessed uuid:97833caa-d8a7-11f1-ae73-e4fade41113c NCBIGene:8788 biolink:gene_associated_with_condition Orphanet:96334 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:2907 infores:orphanet PMID:18176563 Assessed uuid:97833cab-d8a7-11f1-ae73-e4fade41113c NCBIGene:5224 biolink:causes Orphanet:97234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8889 infores:orphanet Assessed uuid:97833cac-d8a7-11f1-ae73-e4fade41113c NCBIGene:859 biolink:causes Orphanet:97238 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1529 infores:orphanet PMID:12557291|PMID:15668980 Assessed uuid:97833cad-d8a7-11f1-ae73-e4fade41113c NCBIGene:2273 biolink:causes Orphanet:97239 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3702 infores:orphanet PMID:18274675 Assessed uuid:97833cae-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:97240 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet PMID:25747004 Assessed uuid:97833caf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2153 biolink:causes Orphanet:600194 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3542 infores:orphanet PMID:33773040 Assessed uuid:97833cb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:gene_associated_with_condition Orphanet:97685 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7765 infores:orphanet Assessed uuid:97833cb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:367 biolink:gene_associated_with_condition Orphanet:95706 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:644 infores:orphanet PMID:24722170 Not yet assessed uuid:97833cb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:10046 biolink:causes Orphanet:95706 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2568 infores:orphanet PMID:17086185 Assessed uuid:97833cb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:190 biolink:causes Orphanet:95702 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7960 infores:orphanet PMID:20301604 Assessed loss_of_function_variant_form uuid:97833cb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6528 biolink:causes Orphanet:95716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11040 infores:orphanet PMID:20537182|PMID:21543982 Assessed uuid:97833cb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7173 biolink:causes Orphanet:95716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12015 infores:orphanet PMID:20537182|PMID:21543982 Assessed uuid:97833cb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:50506 biolink:causes Orphanet:95716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13273 infores:orphanet PMID:20537182|PMID:21543982 Assessed uuid:97833cb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:405753 biolink:causes Orphanet:95716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32698 infores:orphanet PMID:20537182|PMID:21543982 Assessed uuid:97833cb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7038 biolink:causes Orphanet:95716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11764 infores:orphanet PMID:20537182|PMID:21543982 Assessed uuid:97833cb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:389434 biolink:causes Orphanet:95716 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21071 infores:orphanet PMID:20537182|PMID:21543982 Assessed uuid:97833cba-d8a7-11f1-ae73-e4fade41113c NCBIGene:5172 biolink:causes Orphanet:95713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8818 infores:orphanet PMID:24248179 Assessed loss_of_function_variant_form uuid:97833cbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7253 biolink:causes Orphanet:95713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12373 infores:orphanet PMID:14725684 Assessed loss_of_function_variant_form uuid:97833cbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:2304 biolink:gene_associated_with_condition Orphanet:95713 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3806 infores:orphanet PMID:28455095 Not yet assessed uuid:97833cbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:causes Orphanet:95713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2488 infores:orphanet PMID:16418214|PMID:25905381 Assessed uuid:97833cbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:7849 biolink:causes Orphanet:95713 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8622 infores:orphanet PMID:25905381 Assessed loss_of_function_variant_form uuid:97833cbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:7080 biolink:gene_associated_with_condition Orphanet:95713 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11825 infores:orphanet PMID:28455095 Not yet assessed uuid:97833cc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:causes Orphanet:95712 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2488 infores:orphanet PMID:16418214|PMID:25905381 Assessed uuid:97833cc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:7849 biolink:causes Orphanet:95712 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8622 infores:orphanet PMID:25214233|PMID:25905381 Assessed loss_of_function_variant_form uuid:97833cc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5447 biolink:causes Orphanet:95699 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9208 infores:orphanet Assessed uuid:97833cc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:128674 biolink:gene_associated_with_condition Orphanet:95496 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:15836 infores:orphanet PMID:28453850 Assessed uuid:97833cc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:8820 biolink:causes Orphanet:95496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4877 infores:orphanet PMID:21270112 Assessed uuid:97833cc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:89884 biolink:causes Orphanet:95496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21734 infores:orphanet PMID:21270112 Assessed uuid:97833cc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:55717 biolink:gene_associated_with_condition Orphanet:95496 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:13831 infores:orphanet PMID:28453850 Assessed uuid:97833cc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:50937 biolink:causes Orphanet:95496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17104 infores:orphanet PMID:26529631 Assessed uuid:97833cc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:23432 biolink:causes Orphanet:95496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23694 infores:orphanet PMID:25322266 Assessed uuid:97833cc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6091 biolink:causes Orphanet:95496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10249 infores:orphanet PMID:28402530 Assessed loss_of_function_variant_form uuid:97833cca-d8a7-11f1-ae73-e4fade41113c NCBIGene:5449 biolink:causes Orphanet:95494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9210 infores:orphanet PMID:15670191 Assessed uuid:97833ccb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5626 biolink:causes Orphanet:95494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9455 infores:orphanet PMID:9462743 Assessed uuid:97833ccc-d8a7-11f1-ae73-e4fade41113c NCBIGene:8820 biolink:causes Orphanet:95494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4877 infores:orphanet PMID:14561704 Assessed uuid:97833ccd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:causes Orphanet:95494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8522 infores:orphanet PMID:18728160 Assessed uuid:97833cce-d8a7-11f1-ae73-e4fade41113c NCBIGene:89884 biolink:causes Orphanet:95494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21734 infores:orphanet PMID:25871839 Assessed loss_of_function_variant_form uuid:97833ccf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2736 biolink:causes Orphanet:95494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4318 infores:orphanet PMID:20685856 Assessed uuid:97833cd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3170 biolink:causes Orphanet:95494 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5022 infores:orphanet PMID:30414530 Assessed uuid:97833cd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5190 biolink:causes Orphanet:95433 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8859 infores:orphanet PMID:26669662 Assessed uuid:97833cd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:55187 biolink:causes Orphanet:95434 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23595 infores:orphanet PMID:29604224 Assessed uuid:97833cd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:27072 biolink:causes Orphanet:95434 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12713 infores:orphanet PMID:33764426 Assessed uuid:97833cd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5048 biolink:causes Orphanet:95232 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8574 infores:orphanet PMID:18285425 Assessed uuid:97833cd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7389 biolink:causes Orphanet:95159 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12591 infores:orphanet PMID:24175354|PMID:21668429|PMID:17240319 Assessed uuid:97833cd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:84342 biolink:causes Orphanet:95428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18623 infores:orphanet PMID:17331980 Assessed uuid:97833cd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:85300 biolink:causes Orphanet:94122 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:779 infores:orphanet PMID:20301317|PMID:14556008 Assessed uuid:97833cd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55775 biolink:causes Orphanet:94124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18884 infores:orphanet PMID:20301284 Assessed uuid:97833cd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:5428 biolink:causes Orphanet:94125 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9179 infores:orphanet PMID:15824347 Assessed uuid:97833cda-d8a7-11f1-ae73-e4fade41113c NCBIGene:6314 biolink:causes Orphanet:94147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10560 infores:orphanet PMID:20301317 Assessed uuid:97833cdb-d8a7-11f1-ae73-e4fade41113c NCBIGene:343637 biolink:causes Orphanet:94150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16175 infores:orphanet PMID:17914448 Assessed uuid:97833cdc-d8a7-11f1-ae73-e4fade41113c NCBIGene:161497 biolink:gene_associated_with_condition Orphanet:94064 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:16035 infores:orphanet PMID:17098888 Assessed uuid:97833cdd-d8a7-11f1-ae73-e4fade41113c NCBIGene:117155 biolink:gene_associated_with_condition Orphanet:94064 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:18810 infores:orphanet PMID:17098888 Assessed uuid:97833cde-d8a7-11f1-ae73-e4fade41113c NCBIGene:23592 biolink:gene_associated_with_condition Orphanet:94063 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:28887 infores:orphanet PMID:17220210 Assessed uuid:97833cdf-d8a7-11f1-ae73-e4fade41113c NCBIGene:8091 biolink:gene_associated_with_condition Orphanet:94063 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5009 infores:orphanet PMID:28407409 Assessed uuid:97833ce0-d8a7-11f1-ae73-e4fade41113c NCBIGene:25942 biolink:gene_associated_with_condition Orphanet:94065 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:19353 infores:orphanet PMID:27399968 Assessed uuid:97833ce1-d8a7-11f1-ae73-e4fade41113c NCBIGene:1280 biolink:causes Orphanet:94068 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2200 infores:orphanet PMID:26030151 Assessed uuid:97833ce2-d8a7-11f1-ae73-e4fade41113c NCBIGene:170302 biolink:causes Orphanet:94083 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18060 infores:orphanet PMID:11889467 Assessed uuid:97833ce3-d8a7-11f1-ae73-e4fade41113c NCBIGene:116085 biolink:causes Orphanet:94088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17989 infores:orphanet PMID:21148271|PMID:23386035 Assessed loss_of_function_variant_form uuid:97833ce4-d8a7-11f1-ae73-e4fade41113c NCBIGene:56606 biolink:causes Orphanet:94088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13446 infores:orphanet PMID:19926891|PMID:21810765 Assessed loss_of_function_variant_form uuid:97833ce5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2778 biolink:causes Orphanet:94089 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4392 infores:orphanet Assessed uuid:97833ce6-d8a7-11f1-ae73-e4fade41113c NCBIGene:8675 biolink:causes Orphanet:94089 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11431 infores:orphanet Assessed uuid:97833ce7-d8a7-11f1-ae73-e4fade41113c NCBIGene:253738 biolink:gene_associated_with_condition Orphanet:96148 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:19087 infores:orphanet PMID:35340043 Assessed uuid:97833ce8-d8a7-11f1-ae73-e4fade41113c NCBIGene:79813 biolink:gene_associated_with_condition Orphanet:96147 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:24650 infores:orphanet PMID:20945554 Assessed uuid:97833ce9-d8a7-11f1-ae73-e4fade41113c NCBIGene:5172 biolink:causes Orphanet:95720 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8818 infores:orphanet PMID:24248179 Assessed loss_of_function_variant_form uuid:97833cea-d8a7-11f1-ae73-e4fade41113c NCBIGene:7253 biolink:causes Orphanet:95720 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12373 infores:orphanet PMID:25153578|PMID:25905381 Assessed loss_of_function_variant_form uuid:97833ceb-d8a7-11f1-ae73-e4fade41113c NCBIGene:7849 biolink:causes Orphanet:95720 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8622 infores:orphanet PMID:11232006|PMID:11502839|PMID:25146893|PMID:25905381 Assessed loss_of_function_variant_form uuid:97833cec-d8a7-11f1-ae73-e4fade41113c NCBIGene:64207 biolink:causes Orphanet:597623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14282 infores:orphanet PMID:30057031 Assessed uuid:97833ced-d8a7-11f1-ae73-e4fade41113c NCBIGene:1638 biolink:causes Orphanet:597733 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2709 infores:orphanet PMID:33100333 Assessed uuid:97833cee-d8a7-11f1-ae73-e4fade41113c NCBIGene:29072 biolink:causes Orphanet:597738 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18420 infores:orphanet PMID:22495309 Assessed uuid:97833cef-d8a7-11f1-ae73-e4fade41113c NCBIGene:248 biolink:causes Orphanet:597887 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:437 infores:orphanet PMID:29567797 Assessed loss_of_function_variant_form uuid:97833cf0-d8a7-11f1-ae73-e4fade41113c NCBIGene:7276 biolink:causes Orphanet:597939 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12405 infores:orphanet PMID:1979335 Assessed uuid:97833cf1-d8a7-11f1-ae73-e4fade41113c NCBIGene:29072 biolink:causes Orphanet:597743 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18420 infores:orphanet PMID:32710489 Assessed uuid:97833cf2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6775 biolink:contributes_to Orphanet:93552 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11365 infores:orphanet PMID:24023622|PMID:17804842 Assessed uuid:97833cf3-d8a7-11f1-ae73-e4fade41113c NCBIGene:6696 biolink:gene_associated_with_condition Orphanet:93552 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11255 infores:orphanet PMID:24023622 Not yet assessed uuid:97833cf4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3654 biolink:contributes_to Orphanet:93552 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6112 infores:orphanet PMID:19329491 Assessed uuid:97833cf5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6303 biolink:causes Orphanet:93552 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10540 infores:orphanet PMID:35977808 Assessed loss_of_function_variant_form uuid:97833cf6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10588 biolink:causes Orphanet:597874 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7437 infores:orphanet PMID:30031689 Assessed uuid:97833cf7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2243 biolink:causes Orphanet:93562 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3661 infores:orphanet PMID:9389696 Assessed uuid:97833cf8-d8a7-11f1-ae73-e4fade41113c NCBIGene:50801 biolink:causes Orphanet:598603 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6279 infores:orphanet PMID:30290154 Assessed uuid:97833cf9-d8a7-11f1-ae73-e4fade41113c NCBIGene:2290 biolink:causes Orphanet:598164 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3811 infores:orphanet PMID:31454984 Assessed loss_of_function_variant_form uuid:97833cfa-d8a7-11f1-ae73-e4fade41113c NCBIGene:335 biolink:causes Orphanet:93560 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:600 infores:orphanet PMID:19324996 Assessed uuid:97833cfb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4069 biolink:causes Orphanet:93561 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6740 infores:orphanet PMID:11849445|PMID:12675840 Assessed uuid:97833cfc-d8a7-11f1-ae73-e4fade41113c NCBIGene:3075 biolink:causes Orphanet:93571 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4883 infores:orphanet PMID:22388616|PMID:20301598 Assessed uuid:97833cfd-d8a7-11f1-ae73-e4fade41113c NCBIGene:3078 biolink:causes Orphanet:93571 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4888 infores:orphanet PMID:23728178 Assessed uuid:97833cfe-d8a7-11f1-ae73-e4fade41113c NCBIGene:81494 biolink:causes Orphanet:93571 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24668 infores:orphanet PMID:21566112 Assessed uuid:97833cff-d8a7-11f1-ae73-e4fade41113c NCBIGene:10346 biolink:causes Orphanet:597201 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16379 infores:orphanet PMID:32463623|PMID:26836588 Assessed uuid:97833d00-d8a7-11f1-ae73-e4fade41113c NCBIGene:3425 biolink:causes Orphanet:93474 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5391 infores:orphanet PMID:8680403 Assessed uuid:97833d01-d8a7-11f1-ae73-e4fade41113c NCBIGene:3425 biolink:causes Orphanet:93476 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5391 infores:orphanet PMID:8680403 Assessed uuid:97833d02-d8a7-11f1-ae73-e4fade41113c NCBIGene:3425 biolink:causes Orphanet:93473 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5391 infores:orphanet PMID:8680403 Assessed uuid:97833d03-d8a7-11f1-ae73-e4fade41113c NCBIGene:4758 biolink:causes Orphanet:93399 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7758 infores:orphanet PMID:19568825 Assessed uuid:97833d04-d8a7-11f1-ae73-e4fade41113c NCBIGene:4758 biolink:causes Orphanet:93400 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7758 infores:orphanet PMID:14695530|PMID:19568825 Assessed uuid:97833d05-d8a7-11f1-ae73-e4fade41113c NCBIGene:6812 biolink:causes Orphanet:599373 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11444 infores:orphanet PMID:32643187 Assessed uuid:97833d06-d8a7-11f1-ae73-e4fade41113c NCBIGene:5354 biolink:causes Orphanet:599376 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9086 infores:orphanet PMID:26125040 Assessed uuid:97833d07-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:93405 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet Assessed uuid:97833d08-d8a7-11f1-ae73-e4fade41113c NCBIGene:64327 biolink:causes Orphanet:93405 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13243 infores:orphanet PMID:24456159 Assessed uuid:97833d09-d8a7-11f1-ae73-e4fade41113c NCBIGene:3827 biolink:causes Orphanet:599418 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6383 infores:orphanet PMID:33059692 Assessed uuid:97833d0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:284 biolink:causes Orphanet:599418 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:484 infores:orphanet PMID:28601681 Assessed uuid:97833d0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:26509 biolink:causes Orphanet:599418 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3656 infores:orphanet PMID:33508266 Assessed uuid:97833d0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:64711 biolink:causes Orphanet:599418 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14178 infores:orphanet PMID:33799813 Assessed uuid:97833d0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2697 biolink:causes Orphanet:93404 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4274 infores:orphanet PMID:12457340|PMID:14729836 Assessed uuid:97833d0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3239 biolink:causes Orphanet:93406 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5136 infores:orphanet PMID:17236141 Assessed uuid:97833d0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3239 biolink:causes Orphanet:93409 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5136 infores:orphanet PMID:17236141 Assessed uuid:97833d10-d8a7-11f1-ae73-e4fade41113c NCBIGene:2153 biolink:causes Orphanet:599579 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3542 infores:orphanet PMID:25634741 Assessed gain_of_function_variant_form uuid:97833d11-d8a7-11f1-ae73-e4fade41113c NCBIGene:3835 biolink:causes Orphanet:93360 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6391 infores:orphanet PMID:22152677 Assessed uuid:97833d12-d8a7-11f1-ae73-e4fade41113c NCBIGene:4921 biolink:causes Orphanet:93358 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2731 infores:orphanet PMID:19110212 Assessed uuid:97833d13-d8a7-11f1-ae73-e4fade41113c NCBIGene:4796 biolink:causes Orphanet:93357 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7801 infores:orphanet PMID:30773278|PMID:30773277 Assessed loss_of_function_variant_form uuid:97833d14-d8a7-11f1-ae73-e4fade41113c NCBIGene:1107 biolink:causes Orphanet:599082 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1918 infores:orphanet PMID:30397230 Assessed uuid:97833d15-d8a7-11f1-ae73-e4fade41113c NCBIGene:846 biolink:causes Orphanet:93372 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1514 infores:orphanet Assessed loss_of_function_variant_form uuid:97833d16-d8a7-11f1-ae73-e4fade41113c NCBIGene:3239 biolink:causes Orphanet:93387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5136 infores:orphanet PMID:12649808 Assessed uuid:97833d17-d8a7-11f1-ae73-e4fade41113c NCBIGene:5744 biolink:causes Orphanet:93387 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9607 infores:orphanet PMID:20170896 Assessed loss_of_function_variant_form uuid:97833d18-d8a7-11f1-ae73-e4fade41113c NCBIGene:658 biolink:causes Orphanet:93388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1077 infores:orphanet PMID:25758993 Assessed loss_of_function_variant_form uuid:97833d19-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:93388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4220 infores:orphanet PMID:20683927 Assessed loss_of_function_variant_form uuid:97833d1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3549 biolink:causes Orphanet:93388 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5956 infores:orphanet PMID:11455389 Assessed uuid:97833d1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:658 biolink:gene_associated_with_condition Orphanet:93384 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1077 infores:orphanet PMID:16957682 Not yet assessed uuid:97833d1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:93384 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4220 infores:orphanet PMID:12357473 Assessed loss_of_function_variant_form uuid:97833d1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:658 biolink:causes Orphanet:93396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1077 infores:orphanet PMID:14523231 Assessed uuid:97833d1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8200 biolink:causes Orphanet:93396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4220 infores:orphanet PMID:16014698 Assessed uuid:97833d1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:650 biolink:causes Orphanet:93396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1069 infores:orphanet PMID:19327734|PMID:24710560 Assessed uuid:97833d20-d8a7-11f1-ae73-e4fade41113c NCBIGene:9968 biolink:causes Orphanet:93932 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11957 infores:orphanet PMID:20301719|PMID:17334363 Assessed uuid:97833d21-d8a7-11f1-ae73-e4fade41113c NCBIGene:8626 biolink:contributes_to Orphanet:93930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:15979 infores:orphanet PMID:23284286 Assessed uuid:97833d22-d8a7-11f1-ae73-e4fade41113c NCBIGene:3670 biolink:contributes_to Orphanet:93930 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6132 infores:orphanet PMID:25763902 Assessed uuid:97833d23-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9585 infores:orphanet Assessed uuid:97833d24-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet Assessed uuid:97833d25-d8a7-11f1-ae73-e4fade41113c NCBIGene:6496 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10889 infores:orphanet Assessed uuid:97833d26-d8a7-11f1-ae73-e4fade41113c NCBIGene:7050 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11776 infores:orphanet Assessed uuid:97833d27-d8a7-11f1-ae73-e4fade41113c NCBIGene:7546 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12873 infores:orphanet Assessed uuid:97833d28-d8a7-11f1-ae73-e4fade41113c NCBIGene:2736 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4318 infores:orphanet Assessed uuid:97833d29-d8a7-11f1-ae73-e4fade41113c NCBIGene:6997 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11701 infores:orphanet Assessed uuid:97833d2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8928 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3814 infores:orphanet Assessed uuid:97833d2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6491 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10879 infores:orphanet PMID:29785796 Assessed uuid:97833d2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2253 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3686 infores:orphanet Assessed uuid:97833d2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:84976 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19711 infores:orphanet Assessed uuid:97833d2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:50937 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17104 infores:orphanet Assessed uuid:97833d2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4838 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7865 infores:orphanet Assessed uuid:97833d30-d8a7-11f1-ae73-e4fade41113c NCBIGene:28514 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2908 infores:orphanet Assessed uuid:97833d31-d8a7-11f1-ae73-e4fade41113c NCBIGene:2619 biolink:causes Orphanet:93926 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4165 infores:orphanet Assessed uuid:97833d32-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9585 infores:orphanet Assessed uuid:97833d33-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet Assessed uuid:97833d34-d8a7-11f1-ae73-e4fade41113c NCBIGene:6496 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10889 infores:orphanet Assessed uuid:97833d35-d8a7-11f1-ae73-e4fade41113c NCBIGene:7050 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11776 infores:orphanet Assessed uuid:97833d36-d8a7-11f1-ae73-e4fade41113c NCBIGene:7546 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12873 infores:orphanet Assessed uuid:97833d37-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:gene_associated_with_condition Orphanet:93924 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:3688 infores:orphanet PMID:27363716 Not yet assessed uuid:97833d38-d8a7-11f1-ae73-e4fade41113c NCBIGene:2736 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4318 infores:orphanet Assessed uuid:97833d39-d8a7-11f1-ae73-e4fade41113c NCBIGene:6997 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11701 infores:orphanet Assessed uuid:97833d3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8928 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3814 infores:orphanet Assessed uuid:97833d3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6491 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10879 infores:orphanet PMID:29785796 Assessed uuid:97833d3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2253 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3686 infores:orphanet Assessed uuid:97833d3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:84976 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19711 infores:orphanet Assessed uuid:97833d3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:50937 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17104 infores:orphanet Assessed uuid:97833d3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4838 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7865 infores:orphanet Assessed uuid:97833d40-d8a7-11f1-ae73-e4fade41113c NCBIGene:28514 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2908 infores:orphanet Assessed uuid:97833d41-d8a7-11f1-ae73-e4fade41113c NCBIGene:2619 biolink:causes Orphanet:93924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4165 infores:orphanet Assessed uuid:97833d42-d8a7-11f1-ae73-e4fade41113c NCBIGene:5727 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9585 infores:orphanet Assessed uuid:97833d43-d8a7-11f1-ae73-e4fade41113c NCBIGene:6469 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10848 infores:orphanet Assessed uuid:97833d44-d8a7-11f1-ae73-e4fade41113c NCBIGene:6496 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10889 infores:orphanet Assessed uuid:97833d45-d8a7-11f1-ae73-e4fade41113c NCBIGene:7050 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11776 infores:orphanet Assessed uuid:97833d46-d8a7-11f1-ae73-e4fade41113c NCBIGene:7546 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12873 infores:orphanet Assessed uuid:97833d47-d8a7-11f1-ae73-e4fade41113c NCBIGene:2736 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4318 infores:orphanet Assessed uuid:97833d48-d8a7-11f1-ae73-e4fade41113c NCBIGene:6997 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11701 infores:orphanet Assessed uuid:97833d49-d8a7-11f1-ae73-e4fade41113c NCBIGene:8928 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3814 infores:orphanet Assessed uuid:97833d4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6491 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10879 infores:orphanet PMID:29785796 Assessed uuid:97833d4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2253 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3686 infores:orphanet Assessed uuid:97833d4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84976 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19711 infores:orphanet Assessed uuid:97833d4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:50937 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17104 infores:orphanet Assessed uuid:97833d4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4838 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7865 infores:orphanet Assessed uuid:97833d4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:28514 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2908 infores:orphanet Assessed uuid:97833d50-d8a7-11f1-ae73-e4fade41113c NCBIGene:2619 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4165 infores:orphanet Assessed uuid:97833d51-d8a7-11f1-ae73-e4fade41113c NCBIGene:10735 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11355 infores:orphanet PMID:31334757 Assessed loss_of_function_variant_form uuid:97833d52-d8a7-11f1-ae73-e4fade41113c NCBIGene:23007 biolink:causes Orphanet:93925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29185 infores:orphanet PMID:33820834 Assessed uuid:97833d53-d8a7-11f1-ae73-e4fade41113c NCBIGene:6598 biolink:causes Orphanet:93921 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11103 infores:orphanet PMID:17357086|PMID:23401320 Assessed uuid:97833d54-d8a7-11f1-ae73-e4fade41113c NCBIGene:4771 biolink:gene_associated_with_condition Orphanet:93921 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7773 infores:orphanet PMID:23401320 Not yet assessed uuid:97833d55-d8a7-11f1-ae73-e4fade41113c NCBIGene:51004 biolink:contributes_to Orphanet:93921 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:20233 infores:orphanet PMID:24763291 Assessed uuid:97833d56-d8a7-11f1-ae73-e4fade41113c NCBIGene:8216 biolink:contributes_to Orphanet:93921 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6742 infores:orphanet PMID:24362817 Assessed uuid:97833d57-d8a7-11f1-ae73-e4fade41113c NCBIGene:10159 biolink:causes Orphanet:93952 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18305 infores:orphanet PMID:15746149 Assessed uuid:97833d58-d8a7-11f1-ae73-e4fade41113c NCBIGene:775 biolink:causes Orphanet:595109 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1390 infores:orphanet PMID:34079780 Assessed uuid:97833d59-d8a7-11f1-ae73-e4fade41113c NCBIGene:10084 biolink:causes Orphanet:93950 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9330 infores:orphanet Assessed uuid:97833d5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:10084 biolink:causes Orphanet:93947 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9330 infores:orphanet Assessed uuid:97833d5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:775 biolink:causes Orphanet:595098 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1390 infores:orphanet PMID:15454078 Assessed uuid:97833d5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:775 biolink:causes Orphanet:595105 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1390 infores:orphanet PMID:34079780 Assessed uuid:97833d5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10084 biolink:causes Orphanet:93946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9330 infores:orphanet Assessed uuid:97833d5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:10084 biolink:causes Orphanet:93945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9330 infores:orphanet Assessed uuid:97833d5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3040 biolink:causes Orphanet:93616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4824 infores:orphanet Assessed uuid:97833d60-d8a7-11f1-ae73-e4fade41113c NCBIGene:3039 biolink:causes Orphanet:93616 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4823 infores:orphanet Assessed uuid:97833d61-d8a7-11f1-ae73-e4fade41113c NCBIGene:1184 biolink:causes Orphanet:93622 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2023 infores:orphanet PMID:22876375|PMID:21305656|PMID:18540256 Assessed loss_of_function_variant_form uuid:97833d62-d8a7-11f1-ae73-e4fade41113c NCBIGene:4952 biolink:causes Orphanet:93623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8108 infores:orphanet PMID:22876375 Assessed loss_of_function_variant_form uuid:97833d63-d8a7-11f1-ae73-e4fade41113c NCBIGene:27130 biolink:causes Orphanet:93591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17870 infores:orphanet Assessed uuid:97833d64-d8a7-11f1-ae73-e4fade41113c NCBIGene:27031 biolink:causes Orphanet:93591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7907 infores:orphanet PMID:26184788|PMID:18371931 Assessed loss_of_function_variant_form uuid:97833d65-d8a7-11f1-ae73-e4fade41113c NCBIGene:284086 biolink:causes Orphanet:93591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13387 infores:orphanet PMID:18199800 Assessed uuid:97833d66-d8a7-11f1-ae73-e4fade41113c NCBIGene:79809 biolink:causes Orphanet:93591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25660 infores:orphanet PMID:21258341 Assessed uuid:97833d67-d8a7-11f1-ae73-e4fade41113c NCBIGene:23090 biolink:causes Orphanet:93591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16762 infores:orphanet PMID:22863007 Assessed uuid:97833d68-d8a7-11f1-ae73-e4fade41113c NCBIGene:203286 biolink:causes Orphanet:93591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26724 infores:orphanet PMID:23793029 Assessed uuid:97833d69-d8a7-11f1-ae73-e4fade41113c NCBIGene:51134 biolink:causes Orphanet:93591 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17966 infores:orphanet PMID:24882706 Assessed uuid:97833d6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4867 biolink:causes Orphanet:93592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7905 infores:orphanet Assessed uuid:97833d6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:261734 biolink:causes Orphanet:93592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19104 infores:orphanet Assessed uuid:97833d6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84662 biolink:causes Orphanet:93592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29450 infores:orphanet PMID:17618285 Assessed loss_of_function_variant_form uuid:97833d6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57728 biolink:causes Orphanet:93592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18340 infores:orphanet PMID:22019273 Assessed uuid:97833d6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:203286 biolink:causes Orphanet:93592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26724 infores:orphanet PMID:23793029 Assessed uuid:97833d6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23005 biolink:causes Orphanet:93592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29536 infores:orphanet PMID:28089251 Assessed loss_of_function_variant_form uuid:97833d70-d8a7-11f1-ae73-e4fade41113c NCBIGene:56999 biolink:causes Orphanet:93592 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13202 infores:orphanet PMID:30609407 Assessed uuid:97833d71-d8a7-11f1-ae73-e4fade41113c NCBIGene:27031 biolink:causes Orphanet:93589 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7907 infores:orphanet Assessed uuid:97833d72-d8a7-11f1-ae73-e4fade41113c NCBIGene:63929 biolink:causes Orphanet:93589 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28052 infores:orphanet PMID:20179356 Assessed uuid:97833d73-d8a7-11f1-ae73-e4fade41113c NCBIGene:23005 biolink:causes Orphanet:93589 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29536 infores:orphanet PMID:28089251 Assessed loss_of_function_variant_form uuid:97833d74-d8a7-11f1-ae73-e4fade41113c NCBIGene:189 biolink:causes Orphanet:93598 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:341 infores:orphanet Assessed uuid:97833d75-d8a7-11f1-ae73-e4fade41113c NCBIGene:2263 biolink:causes Orphanet:596008 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3689 infores:orphanet PMID:20301592 Assessed uuid:97833d76-d8a7-11f1-ae73-e4fade41113c NCBIGene:11093 biolink:causes Orphanet:93583 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1366 infores:orphanet PMID:25587650 Assessed loss_of_function_variant_form uuid:97833d77-d8a7-11f1-ae73-e4fade41113c NCBIGene:6521 biolink:causes Orphanet:93610 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11027 infores:orphanet Assessed uuid:97833d78-d8a7-11f1-ae73-e4fade41113c NCBIGene:5970 biolink:causes Orphanet:596759 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9955 infores:orphanet PMID:32969189|PMID:28600438 Assessed uuid:97833d79-d8a7-11f1-ae73-e4fade41113c NCBIGene:6521 biolink:causes Orphanet:93608 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11027 infores:orphanet Assessed uuid:97833d7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8671 biolink:causes Orphanet:93607 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11030 infores:orphanet Assessed uuid:97833d7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:11136 biolink:causes Orphanet:93613 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11067 infores:orphanet PMID:21255007 Assessed uuid:97833d7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6519 biolink:causes Orphanet:93612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11025 infores:orphanet PMID:21255007 Assessed uuid:97833d7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55034 biolink:causes Orphanet:93602 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18234 infores:orphanet PMID:11302742|PMID:17368066 Assessed uuid:97833d7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7498 biolink:causes Orphanet:93601 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12805 infores:orphanet PMID:9153281 Assessed uuid:97833d7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:112817 biolink:causes Orphanet:93600 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25155 infores:orphanet Assessed uuid:97833d80-d8a7-11f1-ae73-e4fade41113c NCBIGene:9380 biolink:causes Orphanet:93599 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4570 infores:orphanet Assessed uuid:97833d81-d8a7-11f1-ae73-e4fade41113c NCBIGene:554 biolink:causes Orphanet:93606 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:897 infores:orphanet PMID:17229917 Assessed gain_of_function_variant_form uuid:97833d82-d8a7-11f1-ae73-e4fade41113c NCBIGene:7317 biolink:causes Orphanet:596753 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:12469 infores:orphanet PMID:33108101 Assessed uuid:97833d83-d8a7-11f1-ae73-e4fade41113c NCBIGene:1188 biolink:causes Orphanet:93605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2027 infores:orphanet PMID:24058621|PMID:17622951 Assessed uuid:97833d84-d8a7-11f1-ae73-e4fade41113c NCBIGene:78987 biolink:contributes_to Orphanet:99068 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:14630 infores:orphanet PMID:12632326|PMID:15096951 Assessed uuid:97833d85-d8a7-11f1-ae73-e4fade41113c NCBIGene:2626 biolink:causes Orphanet:99068 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4173 infores:orphanet PMID:18672102|PMID:17643447 Assessed uuid:97833d86-d8a7-11f1-ae73-e4fade41113c NCBIGene:7026 biolink:contributes_to Orphanet:99068 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7976 infores:orphanet PMID:24702954 Assessed uuid:97833d87-d8a7-11f1-ae73-e4fade41113c NCBIGene:78987 biolink:contributes_to Orphanet:99067 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:14630 infores:orphanet PMID:12632326|PMID:15096951 Assessed uuid:97833d88-d8a7-11f1-ae73-e4fade41113c NCBIGene:2626 biolink:causes Orphanet:99067 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4173 infores:orphanet PMID:18672102|PMID:17643447 Assessed uuid:97833d89-d8a7-11f1-ae73-e4fade41113c NCBIGene:2627 biolink:causes Orphanet:99067 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4174 infores:orphanet PMID:20581743 Assessed uuid:97833d8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7026 biolink:contributes_to Orphanet:99067 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7976 infores:orphanet PMID:24702954 Assessed uuid:97833d8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7092 biolink:causes Orphanet:99106 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11843 infores:orphanet PMID:18830233 Assessed uuid:97833d8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10370 biolink:causes Orphanet:99105 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1987 infores:orphanet PMID:16287139 Assessed uuid:97833d8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:70 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:143 infores:orphanet PMID:17947298 Assessed uuid:97833d8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2626 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4173 infores:orphanet PMID:12845333|PMID:15810002|PMID:20347099 Assessed uuid:97833d8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4624 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7576 infores:orphanet PMID:15735645 Assessed uuid:97833d90-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2488 infores:orphanet PMID:21285290|PMID:15810002 Assessed uuid:97833d91-d8a7-11f1-ae73-e4fade41113c NCBIGene:57057 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11598 infores:orphanet PMID:19762328 Assessed loss_of_function_variant_form uuid:97833d92-d8a7-11f1-ae73-e4fade41113c NCBIGene:57057 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11598 infores:orphanet PMID:19762328 Assessed gain_of_function_variant_form uuid:97833d93-d8a7-11f1-ae73-e4fade41113c NCBIGene:7092 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11843 infores:orphanet PMID:18830233 Assessed uuid:97833d94-d8a7-11f1-ae73-e4fade41113c NCBIGene:10370 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1987 infores:orphanet PMID:16287139 Assessed uuid:97833d95-d8a7-11f1-ae73-e4fade41113c NCBIGene:2627 biolink:causes Orphanet:99103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4174 infores:orphanet PMID:20631719 Assessed uuid:97833d96-d8a7-11f1-ae73-e4fade41113c NCBIGene:5784 biolink:causes Orphanet:99141 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9647 infores:orphanet PMID:20826270 Assessed loss_of_function_variant_form uuid:97833d97-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:causes Orphanet:99361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9967 infores:orphanet PMID:10443680|PMID:20833330|PMID:20301434 Assessed uuid:97833d98-d8a7-11f1-ae73-e4fade41113c NCBIGene:4914 biolink:causes Orphanet:99361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8031 infores:orphanet PMID:10443680 Assessed uuid:97833d99-d8a7-11f1-ae73-e4fade41113c NCBIGene:2100 biolink:causes Orphanet:99361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3468 infores:orphanet PMID:26945007 Assessed loss_of_function_variant_form uuid:97833d9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3208 biolink:causes Orphanet:99657 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5144 infores:orphanet PMID:25799108 Assessed uuid:97833d9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:367 biolink:causes Orphanet:99429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:644 infores:orphanet PMID:20301602 Assessed uuid:97833d9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3417 biolink:causes Orphanet:99646 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:5382 infores:orphanet PMID:22025298 Assessed uuid:97833d9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1387 biolink:causes Orphanet:592574 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2348 infores:orphanet PMID:27311832 Assessed uuid:97833d9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2775 biolink:causes Orphanet:592564 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4389 infores:orphanet PMID:29758257 Assessed uuid:97833d9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:84231 biolink:causes Orphanet:592570 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20456 infores:orphanet PMID:29961569 Assessed uuid:97833da0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4537 biolink:causes Orphanet:99718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7458 infores:orphanet PMID:19458970 Assessed uuid:97833da1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4538 biolink:causes Orphanet:99718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7459 infores:orphanet PMID:8644732 Assessed uuid:97833da2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4541 biolink:causes Orphanet:99718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7462 infores:orphanet PMID:8016139|PMID:8644732 Assessed uuid:97833da3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4221 biolink:causes Orphanet:99725 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7010 infores:orphanet PMID:26187128 Assessed loss_of_function_variant_form uuid:97833da4-d8a7-11f1-ae73-e4fade41113c NCBIGene:9049 biolink:causes Orphanet:99725 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:358 infores:orphanet PMID:26187128 Assessed loss_of_function_variant_form uuid:97833da5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1760 biolink:causes Orphanet:589821 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2933 infores:orphanet PMID:31326502 Assessed uuid:97833da6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1760 biolink:causes Orphanet:589827 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2933 infores:orphanet PMID:31326502 Assessed uuid:97833da7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1760 biolink:causes Orphanet:589824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2933 infores:orphanet PMID:31326502 Assessed uuid:97833da8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1760 biolink:causes Orphanet:589833 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2933 infores:orphanet PMID:31326502 Assessed uuid:97833da9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4915 biolink:causes Orphanet:99704 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8032 infores:orphanet PMID:613886 Assessed uuid:97833daa-d8a7-11f1-ae73-e4fade41113c NCBIGene:1760 biolink:causes Orphanet:589830 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2933 infores:orphanet PMID:31326502 Assessed uuid:97833dab-d8a7-11f1-ae73-e4fade41113c NCBIGene:55023 biolink:causes Orphanet:589905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15673 infores:orphanet PMID:29209020 Assessed uuid:97833dac-d8a7-11f1-ae73-e4fade41113c NCBIGene:8085 biolink:causes Orphanet:589856 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7133 infores:orphanet PMID:31949313 Assessed uuid:97833dad-d8a7-11f1-ae73-e4fade41113c NCBIGene:10456 biolink:causes Orphanet:99749 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16915 infores:orphanet PMID:17187068 Assessed uuid:97833dae-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:99757 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:7706467 Assessed uuid:97833daf-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:causes Orphanet:99757 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7765 infores:orphanet PMID:34166060 Assessed uuid:97833db0-d8a7-11f1-ae73-e4fade41113c NCBIGene:23405 biolink:causes Orphanet:99757 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:17098 infores:orphanet PMID:22180160 Assessed uuid:97833db1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5002 biolink:gene_associated_with_condition Orphanet:99757 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10964 infores:orphanet PMID:9520460 Not yet assessed uuid:97833db2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:causes Orphanet:99756 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11998 infores:orphanet PMID:7706467 Assessed uuid:97833db3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2308 biolink:gene_associated_with_condition Orphanet:99756 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3819 infores:orphanet Assessed uuid:97833db4-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:causes Orphanet:99756 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7765 infores:orphanet PMID:34166060 Assessed uuid:97833db5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5077 biolink:gene_associated_with_condition Orphanet:99756 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8617 infores:orphanet Assessed uuid:97833db6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5081 biolink:gene_associated_with_condition Orphanet:99756 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8621 infores:orphanet Assessed uuid:97833db7-d8a7-11f1-ae73-e4fade41113c NCBIGene:6329 biolink:causes Orphanet:99734 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10591 infores:orphanet PMID:7980103|PMID:8308722 Assessed uuid:97833db8-d8a7-11f1-ae73-e4fade41113c NCBIGene:6821 biolink:causes Orphanet:99731 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11460 infores:orphanet Assessed uuid:97833db9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6329 biolink:causes Orphanet:99735 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10591 infores:orphanet PMID:8308722 Assessed uuid:97833dba-d8a7-11f1-ae73-e4fade41113c NCBIGene:6329 biolink:causes Orphanet:99736 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10591 infores:orphanet PMID:8058156 Assessed uuid:97833dbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:99741 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:21514828|PMID:18765655 Assessed uuid:97833dbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:60386 biolink:causes Orphanet:99742 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14409 infores:orphanet PMID:20301539 Assessed uuid:97833dbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:9681 biolink:causes Orphanet:98820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18423 infores:orphanet PMID:23542697|PMID:23542701 Assessed loss_of_function_variant_form uuid:97833dbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:10641 biolink:causes Orphanet:98820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:24969 infores:orphanet PMID:26505888|PMID:27173016 Assessed loss_of_function_variant_form uuid:97833dbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:8131 biolink:causes Orphanet:98820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14124 infores:orphanet PMID:26505888|PMID:27173016 Assessed loss_of_function_variant_form uuid:97833dc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:6328 biolink:causes Orphanet:98820 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10590 infores:orphanet PMID:29466837 Assessed uuid:97833dc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2903 biolink:causes Orphanet:98818 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4585 infores:orphanet PMID:23933820|PMID:23933819|PMID:23933818 Assessed uuid:97833dc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:8517 biolink:causes Orphanet:98813 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5961 infores:orphanet Assessed uuid:97833dc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4792 biolink:causes Orphanet:98813 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7797 infores:orphanet PMID:18412279 Assessed uuid:97833dc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6513 biolink:causes Orphanet:98811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11005 infores:orphanet Assessed uuid:97833dc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:112476 biolink:causes Orphanet:98811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30500 infores:orphanet PMID:22902309|PMID:22209761|PMID:23398397 Assessed uuid:97833dc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:25953 biolink:causes Orphanet:98810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9153 infores:orphanet Assessed uuid:97833dc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:112476 biolink:causes Orphanet:98810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30500 infores:orphanet PMID:22902309|PMID:22209761|PMID:23398397 Assessed uuid:97833dc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3736 biolink:causes Orphanet:98809 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6218 infores:orphanet PMID:29294000 Assessed uuid:97833dc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3766 biolink:causes Orphanet:98809 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6256 infores:orphanet PMID:38979912 Assessed uuid:97833dca-d8a7-11f1-ae73-e4fade41113c NCBIGene:112476 biolink:causes Orphanet:98809 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30500 infores:orphanet PMID:23398397 Assessed uuid:97833dcb-d8a7-11f1-ae73-e4fade41113c NCBIGene:2643 biolink:causes Orphanet:98808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4193 infores:orphanet Assessed uuid:97833dcc-d8a7-11f1-ae73-e4fade41113c NCBIGene:4929 biolink:causes Orphanet:98808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7981 infores:orphanet PMID:31922365 Assessed loss_of_function_variant_form uuid:97833dcd-d8a7-11f1-ae73-e4fade41113c NCBIGene:3615 biolink:causes Orphanet:98808 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6053 infores:orphanet PMID:34305140 Assessed loss_of_function_variant_form uuid:97833dce-d8a7-11f1-ae73-e4fade41113c NCBIGene:604 biolink:causes Orphanet:98838 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1001 infores:orphanet PMID:17116487 Assessed uuid:97833dcf-d8a7-11f1-ae73-e4fade41113c NCBIGene:7514 biolink:gene_associated_with_condition Orphanet:98838 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12825 infores:orphanet PMID:27312795 Assessed uuid:97833dd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4297 biolink:gene_associated_with_condition Orphanet:98835 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7132 infores:orphanet PMID:11579461 Assessed uuid:97833dd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:causes Orphanet:98833 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3765 infores:orphanet PMID:22338050 Assessed uuid:97833dd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4869 biolink:gene_associated_with_condition Orphanet:98833 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7910 infores:orphanet PMID:22338050 Not yet assessed uuid:97833dd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:gene_associated_with_condition Orphanet:98834 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6342 infores:orphanet PMID:22338050|PMID:20425418 Not yet assessed uuid:97833dd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:causes Orphanet:98834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3765 infores:orphanet PMID:22338050 Assessed uuid:97833dd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4869 biolink:gene_associated_with_condition Orphanet:98834 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7910 infores:orphanet PMID:22338050 Not yet assessed uuid:97833dd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4297 biolink:gene_associated_with_condition Orphanet:98831 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7132 infores:orphanet Assessed uuid:97833dd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:causes Orphanet:98832 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3765 infores:orphanet PMID:22338050 Assessed uuid:97833dd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:gene_associated_with_condition Orphanet:98829 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:6342 infores:orphanet PMID:23783394|PMID:24226631 Assessed uuid:97833dd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4629 biolink:gene_associated_with_condition Orphanet:98829 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7569 infores:orphanet PMID:19357394 Assessed uuid:97833dda-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:gene_associated_with_condition Orphanet:98829 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:3765 infores:orphanet PMID:23783394 Assessed uuid:97833ddb-d8a7-11f1-ae73-e4fade41113c NCBIGene:865 biolink:gene_associated_with_condition Orphanet:98829 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1539 infores:orphanet PMID:19357394 Assessed uuid:97833ddc-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:causes Orphanet:98826 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:25941 infores:orphanet PMID:19483684|PMID:19557078 Assessed uuid:97833ddd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2120 biolink:gene_associated_with_condition Orphanet:98823 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3495 infores:orphanet PMID:8168137|PMID:7742547 Assessed uuid:97833dde-d8a7-11f1-ae73-e4fade41113c NCBIGene:171023 biolink:gene_associated_with_condition Orphanet:98823 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:18318 infores:orphanet PMID:31723789 Not yet assessed uuid:97833ddf-d8a7-11f1-ae73-e4fade41113c NCBIGene:6427 biolink:gene_associated_with_condition Orphanet:98823 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10783 infores:orphanet PMID:31723789 Not yet assessed uuid:97833de0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1441 biolink:causes Orphanet:98824 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:2439 infores:orphanet PMID:23656643 Assessed uuid:97833de1-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:98853 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet Assessed uuid:97833de2-d8a7-11f1-ae73-e4fade41113c NCBIGene:23345 biolink:gene_associated_with_condition Orphanet:98853 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17089 infores:orphanet Not yet assessed uuid:97833de3-d8a7-11f1-ae73-e4fade41113c NCBIGene:79188 biolink:causes Orphanet:98853 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28472 infores:orphanet PMID:21391237 Assessed uuid:97833de4-d8a7-11f1-ae73-e4fade41113c NCBIGene:23224 biolink:gene_associated_with_condition Orphanet:98853 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17084 infores:orphanet Not yet assessed uuid:97833de5-d8a7-11f1-ae73-e4fade41113c NCBIGene:861 biolink:causes Orphanet:98850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:10471 infores:orphanet PMID:26464169 Assessed uuid:97833de6-d8a7-11f1-ae73-e4fade41113c NCBIGene:867 biolink:causes Orphanet:98850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1541 infores:orphanet PMID:22905207 Assessed uuid:97833de7-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:causes Orphanet:98850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:25941 infores:orphanet PMID:19262599 Assessed uuid:97833de8-d8a7-11f1-ae73-e4fade41113c NCBIGene:171023 biolink:causes Orphanet:98850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:18318 infores:orphanet PMID:26464169 Assessed uuid:97833de9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6427 biolink:causes Orphanet:98850 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:10783 infores:orphanet PMID:26464169 Assessed uuid:97833dea-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:causes Orphanet:98849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6342 infores:orphanet Assessed uuid:97833deb-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:causes Orphanet:98849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:25941 infores:orphanet PMID:25567135 Assessed uuid:97833dec-d8a7-11f1-ae73-e4fade41113c NCBIGene:171023 biolink:causes Orphanet:98849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:18318 infores:orphanet PMID:25567135 Assessed uuid:97833ded-d8a7-11f1-ae73-e4fade41113c NCBIGene:6427 biolink:causes Orphanet:98849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:10783 infores:orphanet PMID:25567135 Assessed uuid:97833dee-d8a7-11f1-ae73-e4fade41113c NCBIGene:200942 biolink:gene_associated_with_condition Orphanet:98843 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:28557 infores:orphanet PMID:19706467 Not yet assessed uuid:97833def-d8a7-11f1-ae73-e4fade41113c NCBIGene:596 biolink:gene_associated_with_condition Orphanet:98839 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:990 infores:orphanet PMID:19040469 Assessed uuid:97833df0-d8a7-11f1-ae73-e4fade41113c NCBIGene:604 biolink:causes Orphanet:98839 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1001 infores:orphanet Assessed uuid:97833df1-d8a7-11f1-ae73-e4fade41113c NCBIGene:7297 biolink:gene_associated_with_condition Orphanet:98842 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12440 infores:orphanet PMID:25349176 Assessed uuid:97833df2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4869 biolink:gene_associated_with_condition Orphanet:98842 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7910 infores:orphanet PMID:25349176 Assessed uuid:97833df3-d8a7-11f1-ae73-e4fade41113c NCBIGene:387 biolink:causes Orphanet:589608 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:667 infores:orphanet PMID:31570889 Assessed uuid:97833df4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6521 biolink:causes Orphanet:98868 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11027 infores:orphanet PMID:23664421|PMID:23339107 Assessed uuid:97833df5-d8a7-11f1-ae73-e4fade41113c NCBIGene:4297 biolink:gene_associated_with_condition Orphanet:589595 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7132 infores:orphanet PMID:27069254|PMID:29072953|PMID:26276768 Assessed uuid:97833df6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:causes Orphanet:589595 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3765 infores:orphanet PMID:27069254|PMID:29072953|PMID:26276768 Assessed uuid:97833df7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4299 biolink:gene_associated_with_condition Orphanet:589595 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7135 infores:orphanet Assessed uuid:97833df8-d8a7-11f1-ae73-e4fade41113c NCBIGene:146059 biolink:causes Orphanet:98869 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1713 infores:orphanet Assessed uuid:97833df9-d8a7-11f1-ae73-e4fade41113c NCBIGene:84529 biolink:causes Orphanet:98869 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26929 infores:orphanet PMID:23716552 Assessed uuid:97833dfa-d8a7-11f1-ae73-e4fade41113c NCBIGene:9493 biolink:causes Orphanet:98870 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6392 infores:orphanet PMID:23570799 Assessed uuid:97833dfb-d8a7-11f1-ae73-e4fade41113c NCBIGene:29127 biolink:causes Orphanet:98870 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9804 infores:orphanet Assessed uuid:97833dfc-d8a7-11f1-ae73-e4fade41113c NCBIGene:9757 biolink:causes Orphanet:589618 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15840 infores:orphanet PMID:27992417 Assessed uuid:97833dfd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2010 biolink:causes Orphanet:98863 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3331 infores:orphanet Assessed uuid:97833dfe-d8a7-11f1-ae73-e4fade41113c NCBIGene:2273 biolink:causes Orphanet:98863 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3702 infores:orphanet Assessed uuid:97833dff-d8a7-11f1-ae73-e4fade41113c NCBIGene:4297 biolink:gene_associated_with_condition Orphanet:589534 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7132 infores:orphanet PMID:27069254|PMID:29072953|PMID:26276768 Assessed uuid:97833e00-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:causes Orphanet:589534 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3765 infores:orphanet PMID:27069254|PMID:29072953|PMID:26276768 Assessed uuid:97833e01-d8a7-11f1-ae73-e4fade41113c NCBIGene:2196 biolink:causes Orphanet:589527 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3596 infores:orphanet PMID:29053796 Assessed uuid:97833e02-d8a7-11f1-ae73-e4fade41113c NCBIGene:2904 biolink:causes Orphanet:589547 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4586 infores:orphanet PMID:29851452 Assessed uuid:97833e03-d8a7-11f1-ae73-e4fade41113c NCBIGene:23761 biolink:causes Orphanet:589442 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8999 infores:orphanet PMID:31263216 Assessed uuid:97833e04-d8a7-11f1-ae73-e4fade41113c NCBIGene:5331 biolink:causes Orphanet:589435 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9056 infores:orphanet PMID:29122926 Assessed uuid:97833e05-d8a7-11f1-ae73-e4fade41113c NCBIGene:23646 biolink:causes Orphanet:589522 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17158 infores:orphanet PMID:29847346 Assessed uuid:97833e06-d8a7-11f1-ae73-e4fade41113c NCBIGene:9698 biolink:causes Orphanet:589515 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14957 infores:orphanet PMID:30903679 Assessed uuid:97833e07-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:98855 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet Assessed uuid:97833e08-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:causes Orphanet:98856 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6636 infores:orphanet PMID:20301462 Assessed uuid:97833e09-d8a7-11f1-ae73-e4fade41113c NCBIGene:2243 biolink:causes Orphanet:98881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3661 infores:orphanet PMID:25320241 Assessed uuid:97833e0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2244 biolink:causes Orphanet:98881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3662 infores:orphanet PMID:25320241 Assessed uuid:97833e0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2266 biolink:causes Orphanet:98881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3694 infores:orphanet PMID:25320241 Assessed uuid:97833e0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2243 biolink:causes Orphanet:98880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3661 infores:orphanet PMID:11460507|PMID:17295221 Assessed uuid:97833e0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2244 biolink:causes Orphanet:98880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3662 infores:orphanet PMID:11460507|PMID:17295221 Assessed uuid:97833e0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2266 biolink:causes Orphanet:98880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3694 infores:orphanet PMID:11460507|PMID:17295221 Assessed uuid:97833e0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51206 biolink:causes Orphanet:98885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14388 infores:orphanet PMID:19549989|PMID:19552682 Assessed loss_of_function_variant_form uuid:97833e10-d8a7-11f1-ae73-e4fade41113c NCBIGene:10483 biolink:causes Orphanet:98873 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10702 infores:orphanet Assessed loss_of_function_variant_form uuid:97833e11-d8a7-11f1-ae73-e4fade41113c NCBIGene:100996717 biolink:causes Orphanet:98897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:53924 infores:orphanet PMID:33693509 Assessed uuid:97833e12-d8a7-11f1-ae73-e4fade41113c NCBIGene:10755 biolink:causes Orphanet:98897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1226 infores:orphanet PMID:33374016 Assessed uuid:97833e13-d8a7-11f1-ae73-e4fade41113c NCBIGene:353116 biolink:causes Orphanet:98897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26814 infores:orphanet PMID:35700120 Assessed uuid:97833e14-d8a7-11f1-ae73-e4fade41113c NCBIGene:29967 biolink:causes Orphanet:98897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31708 infores:orphanet PMID:31332380 Assessed uuid:97833e15-d8a7-11f1-ae73-e4fade41113c NCBIGene:5825 biolink:causes Orphanet:98897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:67 infores:orphanet PMID:39068203 Assessed uuid:97833e16-d8a7-11f1-ae73-e4fade41113c NCBIGene:101060691 biolink:causes Orphanet:98897 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:51204 infores:orphanet PMID:37923380 Assessed uuid:97833e17-d8a7-11f1-ae73-e4fade41113c NCBIGene:1756 biolink:causes Orphanet:98895 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2928 infores:orphanet Assessed uuid:97833e18-d8a7-11f1-ae73-e4fade41113c NCBIGene:1756 biolink:causes Orphanet:98896 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2928 infores:orphanet Assessed uuid:97833e19-d8a7-11f1-ae73-e4fade41113c NCBIGene:8425 biolink:contributes_to Orphanet:98896 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Modifying germline mutation in HGNC:6717 infores:orphanet PMID:23440719 Assessed uuid:97833e1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7138 biolink:causes Orphanet:98902 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11948 infores:orphanet PMID:10952871 Assessed uuid:97833e1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:27286 biolink:gene_associated_with_condition Orphanet:98889 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:30668 infores:orphanet PMID:16497722 Not yet assessed uuid:97833e1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9289 biolink:causes Orphanet:98889 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4512 infores:orphanet PMID:24531968 Assessed uuid:97833e1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5297 biolink:causes Orphanet:98889 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8983 infores:orphanet PMID:25855803 Assessed uuid:97833e1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:160418 biolink:causes Orphanet:98892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26899 infores:orphanet PMID:27773428|PMID:28973161 Assessed loss_of_function_variant_form uuid:97833e1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10564 biolink:causes Orphanet:98892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15853 infores:orphanet PMID:14647276|PMID:25160555 Assessed uuid:97833e20-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:98892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3754 infores:orphanet PMID:20301392 Assessed loss_of_function_variant_form uuid:97833e21-d8a7-11f1-ae73-e4fade41113c NCBIGene:55780 biolink:causes Orphanet:98892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21056 infores:orphanet PMID:24056535 Assessed uuid:97833e22-d8a7-11f1-ae73-e4fade41113c NCBIGene:23327 biolink:causes Orphanet:98892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7728 infores:orphanet PMID:27694961 Assessed uuid:97833e23-d8a7-11f1-ae73-e4fade41113c NCBIGene:4131 biolink:causes Orphanet:98892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6836 infores:orphanet PMID:29738522 Assessed loss_of_function_variant_form uuid:97833e24-d8a7-11f1-ae73-e4fade41113c NCBIGene:375 biolink:causes Orphanet:98892 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:652 infores:orphanet PMID:28868155 Assessed uuid:97833e25-d8a7-11f1-ae73-e4fade41113c NCBIGene:11155 biolink:causes Orphanet:98912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15710 infores:orphanet PMID:20809097 Assessed uuid:97833e26-d8a7-11f1-ae73-e4fade41113c NCBIGene:9499 biolink:causes Orphanet:98911 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12399 infores:orphanet PMID:15111675|PMID:16793270|PMID:21361873 Assessed uuid:97833e27-d8a7-11f1-ae73-e4fade41113c NCBIGene:5376 biolink:contributes_to Orphanet:98916 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:9118 infores:orphanet PMID:12439896 Assessed uuid:97833e28-d8a7-11f1-ae73-e4fade41113c NCBIGene:8292 biolink:causes Orphanet:98915 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2226 infores:orphanet PMID:20301347 Assessed uuid:97833e29-d8a7-11f1-ae73-e4fade41113c NCBIGene:3913 biolink:causes Orphanet:98915 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6487 infores:orphanet PMID:19251977|PMID:25792100 Assessed uuid:97833e2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1305 biolink:causes Orphanet:98915 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2190 infores:orphanet PMID:26626625 Assessed loss_of_function_variant_form uuid:97833e2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:58 biolink:causes Orphanet:98904 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:129 infores:orphanet PMID:10508519 Assessed uuid:97833e2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:98905 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:20301467|PMID:12719381|PMID:16380615 Assessed uuid:97833e2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:57104 biolink:causes Orphanet:98908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30802 infores:orphanet PMID:17187067 Assessed uuid:97833e2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:51099 biolink:causes Orphanet:98907 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21396 infores:orphanet PMID:18606822 Assessed uuid:97833e2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1674 biolink:causes Orphanet:98909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2770 infores:orphanet PMID:11668632 Assessed uuid:97833e30-d8a7-11f1-ae73-e4fade41113c NCBIGene:27235 biolink:contributes_to Orphanet:98933 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25223 infores:orphanet PMID:23758206 Assessed uuid:97833e31-d8a7-11f1-ae73-e4fade41113c NCBIGene:57338 biolink:causes Orphanet:98934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14203 infores:orphanet Assessed uuid:97833e32-d8a7-11f1-ae73-e4fade41113c NCBIGene:3508 biolink:causes Orphanet:98920 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5542 infores:orphanet PMID:11528396 Assessed uuid:97833e33-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:98942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:12721955|PMID:16604056 Assessed uuid:97833e34-d8a7-11f1-ae73-e4fade41113c NCBIGene:71 biolink:causes Orphanet:98942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:144 infores:orphanet PMID:28493397 Assessed uuid:97833e35-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:98942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:47 infores:orphanet PMID:22226084 Assessed uuid:97833e36-d8a7-11f1-ae73-e4fade41113c NCBIGene:6297 biolink:causes Orphanet:98942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10526 infores:orphanet PMID:24412933 Assessed loss_of_function_variant_form uuid:97833e37-d8a7-11f1-ae73-e4fade41113c NCBIGene:7855 biolink:causes Orphanet:98942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4043 infores:orphanet PMID:26908622 Assessed gain_of_function_variant_form uuid:97833e38-d8a7-11f1-ae73-e4fade41113c NCBIGene:4990 biolink:gene_associated_with_condition Orphanet:98938 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10892 infores:orphanet Not yet assessed uuid:97833e39-d8a7-11f1-ae73-e4fade41113c NCBIGene:6657 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11195 infores:orphanet PMID:24033328 Assessed uuid:97833e3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8522 infores:orphanet PMID:24033328 Assessed uuid:97833e3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:64220 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30650 infores:orphanet PMID:21901792 Assessed uuid:97833e3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:64840 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17652 infores:orphanet PMID:33111437 Assessed uuid:97833e3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:338917 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1975 infores:orphanet PMID:15257456 Assessed uuid:97833e3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:30062 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18662 infores:orphanet PMID:24033328 Assessed uuid:97833e3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:392255 biolink:gene_associated_with_condition Orphanet:98938 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:4221 infores:orphanet PMID:19864492 Not yet assessed uuid:97833e40-d8a7-11f1-ae73-e4fade41113c NCBIGene:9573 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4218 infores:orphanet PMID:19864492 Assessed uuid:97833e41-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:47 infores:orphanet PMID:22226084 Assessed uuid:97833e42-d8a7-11f1-ae73-e4fade41113c NCBIGene:55714 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29944 infores:orphanet PMID:22766609 Assessed uuid:97833e43-d8a7-11f1-ae73-e4fade41113c NCBIGene:220 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:409 infores:orphanet PMID:23312594 Assessed uuid:97833e44-d8a7-11f1-ae73-e4fade41113c NCBIGene:5950 biolink:causes Orphanet:98938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9922 infores:orphanet PMID:25910211 Assessed uuid:97833e45-d8a7-11f1-ae73-e4fade41113c NCBIGene:341640 biolink:causes Orphanet:98949 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25396 infores:orphanet PMID:29688405 Assessed loss_of_function_variant_form uuid:97833e46-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:98947 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:12721955|PMID:16604056 Assessed uuid:97833e47-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:98947 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:47 infores:orphanet PMID:22226084 Assessed uuid:97833e48-d8a7-11f1-ae73-e4fade41113c NCBIGene:6297 biolink:causes Orphanet:98947 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10526 infores:orphanet PMID:24412933 Assessed loss_of_function_variant_form uuid:97833e49-d8a7-11f1-ae73-e4fade41113c NCBIGene:7855 biolink:causes Orphanet:98947 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4043 infores:orphanet PMID:26908622 Assessed gain_of_function_variant_form uuid:97833e4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:98945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:12721955|PMID:16604056 Assessed uuid:97833e4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:98945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:47 infores:orphanet PMID:22226084 Assessed uuid:97833e4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6297 biolink:causes Orphanet:98945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10526 infores:orphanet PMID:24412933 Assessed loss_of_function_variant_form uuid:97833e4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7855 biolink:causes Orphanet:98945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4043 infores:orphanet PMID:26908622 Assessed gain_of_function_variant_form uuid:97833e4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:98946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:12721955|PMID:16604056 Assessed uuid:97833e4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:98946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:47 infores:orphanet PMID:22226084 Assessed uuid:97833e50-d8a7-11f1-ae73-e4fade41113c NCBIGene:6297 biolink:causes Orphanet:98946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10526 infores:orphanet PMID:24412933 Assessed loss_of_function_variant_form uuid:97833e51-d8a7-11f1-ae73-e4fade41113c NCBIGene:7855 biolink:causes Orphanet:98946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4043 infores:orphanet PMID:26908622 Assessed gain_of_function_variant_form uuid:97833e52-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:98943 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:12721955|PMID:16604056 Assessed uuid:97833e53-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:98943 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:47 infores:orphanet PMID:22226084 Assessed uuid:97833e54-d8a7-11f1-ae73-e4fade41113c NCBIGene:6297 biolink:causes Orphanet:98943 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10526 infores:orphanet PMID:24412933 Assessed loss_of_function_variant_form uuid:97833e55-d8a7-11f1-ae73-e4fade41113c NCBIGene:7855 biolink:causes Orphanet:98943 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4043 infores:orphanet PMID:26908622 Assessed gain_of_function_variant_form uuid:97833e56-d8a7-11f1-ae73-e4fade41113c NCBIGene:5080 biolink:causes Orphanet:98944 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8620 infores:orphanet PMID:12721955|PMID:16604056 Assessed uuid:97833e57-d8a7-11f1-ae73-e4fade41113c NCBIGene:71 biolink:causes Orphanet:98944 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:144 infores:orphanet PMID:28493397 Assessed uuid:97833e58-d8a7-11f1-ae73-e4fade41113c NCBIGene:10058 biolink:causes Orphanet:98944 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:47 infores:orphanet PMID:22226084 Assessed uuid:97833e59-d8a7-11f1-ae73-e4fade41113c NCBIGene:6297 biolink:causes Orphanet:98944 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10526 infores:orphanet PMID:24412933 Assessed loss_of_function_variant_form uuid:97833e5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7855 biolink:causes Orphanet:98944 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4043 infores:orphanet PMID:26908622 Assessed gain_of_function_variant_form uuid:97833e5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4070 biolink:causes Orphanet:98957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11530 infores:orphanet PMID:20454699 Assessed uuid:97833e5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7045 biolink:causes Orphanet:98956 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11771 infores:orphanet PMID:16652336 Assessed uuid:97833e5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3859 biolink:causes Orphanet:98954 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6414 infores:orphanet PMID:9171831 Assessed uuid:97833e5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3850 biolink:causes Orphanet:98954 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6440 infores:orphanet PMID:9171831 Assessed uuid:97833e5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:7045 biolink:causes Orphanet:98964 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11771 infores:orphanet PMID:12770961 Assessed uuid:97833e60-d8a7-11f1-ae73-e4fade41113c NCBIGene:7045 biolink:causes Orphanet:98963 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11771 infores:orphanet PMID:22815629 Assessed uuid:97833e61-d8a7-11f1-ae73-e4fade41113c NCBIGene:7045 biolink:causes Orphanet:98962 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11771 infores:orphanet PMID:21264234 Assessed uuid:97833e62-d8a7-11f1-ae73-e4fade41113c NCBIGene:7045 biolink:causes Orphanet:98961 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11771 infores:orphanet PMID:20360992 Assessed uuid:97833e63-d8a7-11f1-ae73-e4fade41113c NCBIGene:7045 biolink:causes Orphanet:98960 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11771 infores:orphanet PMID:26464103 Assessed uuid:97833e64-d8a7-11f1-ae73-e4fade41113c NCBIGene:30813 biolink:causes Orphanet:98973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12723 infores:orphanet PMID:11978762 Assessed uuid:97833e65-d8a7-11f1-ae73-e4fade41113c NCBIGene:6935 biolink:causes Orphanet:98973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11642 infores:orphanet PMID:23807282|PMID:25441224 Assessed uuid:97833e66-d8a7-11f1-ae73-e4fade41113c NCBIGene:1296 biolink:causes Orphanet:98973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2216 infores:orphanet PMID:11689488 Assessed uuid:97833e67-d8a7-11f1-ae73-e4fade41113c NCBIGene:79977 biolink:causes Orphanet:98973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2799 infores:orphanet PMID:29499165 Assessed uuid:97833e68-d8a7-11f1-ae73-e4fade41113c NCBIGene:58495 biolink:causes Orphanet:98973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15804 infores:orphanet PMID:26749309 Assessed uuid:97833e69-d8a7-11f1-ae73-e4fade41113c NCBIGene:83959 biolink:causes Orphanet:98974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16438 infores:orphanet PMID:20848555 Assessed uuid:97833e6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6935 biolink:causes Orphanet:98974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11642 infores:orphanet PMID:20036349 Assessed loss_of_function_variant_form uuid:97833e6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1296 biolink:causes Orphanet:98974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2216 infores:orphanet PMID:18464802 Assessed uuid:97833e6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6925 biolink:causes Orphanet:98974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11634 infores:orphanet PMID:23185296 Assessed uuid:97833e6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:123624 biolink:causes Orphanet:98974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26504 infores:orphanet PMID:24094747 Assessed uuid:97833e6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:29914 biolink:causes Orphanet:98967 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30791 infores:orphanet PMID:23169578|PMID:22065921 Assessed uuid:97833e6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4166 biolink:causes Orphanet:98969 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6938 infores:orphanet PMID:11017086|PMID:19365571 Assessed loss_of_function_variant_form uuid:97833e70-d8a7-11f1-ae73-e4fade41113c NCBIGene:200576 biolink:causes Orphanet:98970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23785 infores:orphanet PMID:22065932|PMID:26396486 Assessed loss_of_function_variant_form uuid:97833e71-d8a7-11f1-ae73-e4fade41113c NCBIGene:4653 biolink:causes Orphanet:98976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7610 infores:orphanet PMID:21730848|PMID:15733270|PMID:21168818 Assessed uuid:97833e72-d8a7-11f1-ae73-e4fade41113c NCBIGene:4053 biolink:causes Orphanet:98976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6715 infores:orphanet PMID:19361779 Assessed uuid:97833e73-d8a7-11f1-ae73-e4fade41113c NCBIGene:7010 biolink:causes Orphanet:98976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11724 infores:orphanet PMID:27270174 Assessed loss_of_function_variant_form uuid:97833e74-d8a7-11f1-ae73-e4fade41113c NCBIGene:1545 biolink:causes Orphanet:98976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2597 infores:orphanet PMID:21730848 Assessed uuid:97833e75-d8a7-11f1-ae73-e4fade41113c NCBIGene:1545 biolink:contributes_to Orphanet:98977 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2597 infores:orphanet PMID:19643970|PMID:22878448 Assessed uuid:97833e76-d8a7-11f1-ae73-e4fade41113c NCBIGene:2202 biolink:causes Orphanet:98977 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3218 infores:orphanet PMID:34923728 Assessed uuid:97833e77-d8a7-11f1-ae73-e4fade41113c NCBIGene:4653 biolink:causes Orphanet:98977 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7610 infores:orphanet PMID:21730848 Assessed uuid:97833e78-d8a7-11f1-ae73-e4fade41113c NCBIGene:5308 biolink:causes Orphanet:98978 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9005 infores:orphanet PMID:19513095|PMID:24433355 Assessed uuid:97833e79-d8a7-11f1-ae73-e4fade41113c NCBIGene:2296 biolink:causes Orphanet:98978 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3800 infores:orphanet PMID:9620769|PMID:11170889 Assessed uuid:97833e7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1409 biolink:causes Orphanet:98988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2388 infores:orphanet PMID:22065922 Assessed uuid:97833e7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1417 biolink:causes Orphanet:98988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2400 infores:orphanet PMID:23508780 Assessed uuid:97833e7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1419 biolink:causes Orphanet:98988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2409 infores:orphanet PMID:23288985 Assessed uuid:97833e7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1412 biolink:causes Orphanet:98988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2395 infores:orphanet PMID:23508780 Assessed uuid:97833e7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1421 biolink:causes Orphanet:98990 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2411 infores:orphanet PMID:21552497|PMID:18334953 Assessed uuid:97833e7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1415 biolink:causes Orphanet:98989 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2398 infores:orphanet PMID:9158139|PMID:19321936 Assessed uuid:97833e80-d8a7-11f1-ae73-e4fade41113c NCBIGene:1421 biolink:causes Orphanet:98989 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2411 infores:orphanet PMID:12676897 Assessed uuid:97833e81-d8a7-11f1-ae73-e4fade41113c NCBIGene:4284 biolink:causes Orphanet:98989 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7103 infores:orphanet PMID:21850180 Assessed uuid:97833e82-d8a7-11f1-ae73-e4fade41113c NCBIGene:4094 biolink:causes Orphanet:98989 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6776 infores:orphanet PMID:16470690 Assessed uuid:97833e83-d8a7-11f1-ae73-e4fade41113c NCBIGene:8419 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1041 infores:orphanet PMID:24654948 Assessed uuid:97833e84-d8a7-11f1-ae73-e4fade41113c NCBIGene:1415 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2398 infores:orphanet PMID:10634616 Assessed uuid:97833e85-d8a7-11f1-ae73-e4fade41113c NCBIGene:1420 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2410 infores:orphanet PMID:10914683|PMID:23954869 Assessed uuid:97833e86-d8a7-11f1-ae73-e4fade41113c NCBIGene:1421 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2411 infores:orphanet PMID:21866214 Assessed uuid:97833e87-d8a7-11f1-ae73-e4fade41113c NCBIGene:2700 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4277 infores:orphanet PMID:22876138 Assessed uuid:97833e88-d8a7-11f1-ae73-e4fade41113c NCBIGene:2703 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4281 infores:orphanet PMID:18006672 Assessed loss_of_function_variant_form uuid:97833e89-d8a7-11f1-ae73-e4fade41113c NCBIGene:1414 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2397 infores:orphanet PMID:22267527|PMID:19461930|PMID:12360425 Assessed uuid:97833e8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4094 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6776 infores:orphanet PMID:11772997|PMID:12642301 Assessed uuid:97833e8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7431 biolink:causes Orphanet:98984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12692 infores:orphanet PMID:19126778 Assessed uuid:97833e8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8419 biolink:causes Orphanet:98985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1041 infores:orphanet PMID:17200662 Assessed uuid:97833e8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1411 biolink:causes Orphanet:98985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2394 infores:orphanet PMID:9788845 Assessed uuid:97833e8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1415 biolink:causes Orphanet:98985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2398 infores:orphanet PMID:11424921 Assessed uuid:97833e8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2703 biolink:causes Orphanet:98985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4281 infores:orphanet PMID:18587493 Assessed uuid:97833e90-d8a7-11f1-ae73-e4fade41113c NCBIGene:4284 biolink:causes Orphanet:98985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7103 infores:orphanet PMID:20361015|PMID:24405844 Assessed uuid:97833e91-d8a7-11f1-ae73-e4fade41113c NCBIGene:1427 biolink:causes Orphanet:98985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2417 infores:orphanet PMID:18587492|PMID:16141006 Assessed uuid:97833e92-d8a7-11f1-ae73-e4fade41113c NCBIGene:7466 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12762 infores:orphanet PMID:23531866 Assessed uuid:97833e93-d8a7-11f1-ae73-e4fade41113c NCBIGene:1409 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2388 infores:orphanet PMID:19390652|PMID:24074001|PMID:24384146 Assessed uuid:97833e94-d8a7-11f1-ae73-e4fade41113c NCBIGene:1410 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2389 infores:orphanet PMID:19597569|PMID:24384146|PMID:26622071 Assessed uuid:97833e95-d8a7-11f1-ae73-e4fade41113c NCBIGene:1411 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2394 infores:orphanet PMID:21686330|PMID:24384146 Assessed uuid:97833e96-d8a7-11f1-ae73-e4fade41113c NCBIGene:1415 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2398 infores:orphanet PMID:19649175|PMID:24384146 Assessed uuid:97833e97-d8a7-11f1-ae73-e4fade41113c NCBIGene:1417 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2400 infores:orphanet PMID:23508780|PMID:15914629 Assessed uuid:97833e98-d8a7-11f1-ae73-e4fade41113c NCBIGene:1420 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2410 infores:orphanet PMID:18618005|PMID:24384146 Assessed uuid:97833e99-d8a7-11f1-ae73-e4fade41113c NCBIGene:1421 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2411 infores:orphanet PMID:21031598|PMID:26147294|PMID:24384146 Assessed uuid:97833e9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2700 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4277 infores:orphanet PMID:16234473|PMID:20431721|PMID:21552498 Assessed uuid:97833e9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2703 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4281 infores:orphanet PMID:14627691|PMID:24384146 Assessed uuid:97833e9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4284 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7103 infores:orphanet PMID:21245956|PMID:21647270|PMID:24384146 Assessed uuid:97833e9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1414 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2397 infores:orphanet PMID:18432316|PMID:17460281|PMID:24384146 Assessed uuid:97833e9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4810 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7820 infores:orphanet PMID:19414485|PMID:24968223|PMID:24384146 Assessed uuid:97833e9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:631 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1040 infores:orphanet PMID:24379646 Assessed uuid:97833ea0-d8a7-11f1-ae73-e4fade41113c NCBIGene:1969 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3386 infores:orphanet PMID:24014202 Assessed uuid:97833ea1-d8a7-11f1-ae73-e4fade41113c NCBIGene:79443 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14673 infores:orphanet PMID:21636066|PMID:24384146 Assessed uuid:97833ea2-d8a7-11f1-ae73-e4fade41113c NCBIGene:146862 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14304 infores:orphanet PMID:24549050 Assessed uuid:97833ea3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1412 biolink:causes Orphanet:98991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2395 infores:orphanet PMID:23508780 Assessed uuid:97833ea4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1409 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2388 infores:orphanet PMID:16862070 Assessed uuid:97833ea5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1415 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2398 infores:orphanet PMID:21031021 Assessed uuid:97833ea6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2703 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4281 infores:orphanet PMID:17601931 Assessed uuid:97833ea7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3299 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5227 infores:orphanet PMID:15277496|PMID:16876512 Assessed uuid:97833ea8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4284 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7103 infores:orphanet PMID:17893667 Assessed uuid:97833ea9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4810 biolink:gene_associated_with_condition Orphanet:98994 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:7820 infores:orphanet Not yet assessed uuid:97833eaa-d8a7-11f1-ae73-e4fade41113c NCBIGene:3982 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6610 infores:orphanet PMID:18596884 Assessed uuid:97833eab-d8a7-11f1-ae73-e4fade41113c NCBIGene:1969 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3386 infores:orphanet PMID:19306328 Assessed uuid:97833eac-d8a7-11f1-ae73-e4fade41113c NCBIGene:79443 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14673 infores:orphanet PMID:26622071 Assessed uuid:97833ead-d8a7-11f1-ae73-e4fade41113c NCBIGene:55750 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21869 infores:orphanet PMID:22415731|PMID:26622071 Assessed uuid:97833eae-d8a7-11f1-ae73-e4fade41113c NCBIGene:1419 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2409 infores:orphanet PMID:23288985 Assessed uuid:97833eaf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2651 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4204 infores:orphanet PMID:21761136|PMID:26622071 Assessed uuid:97833eb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:4047 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6708 infores:orphanet PMID:262003412 Assessed uuid:97833eb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:23094 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23801 infores:orphanet PMID:25804400 Assessed uuid:97833eb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:221496 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21244 infores:orphanet PMID:26788539 Assessed uuid:97833eb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:10857 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16090 infores:orphanet PMID:33867527 Assessed uuid:97833eb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:23268 biolink:causes Orphanet:98994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30373 infores:orphanet PMID:30290152 Assessed loss_of_function_variant_form uuid:97833eb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5309 biolink:causes Orphanet:98993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9006 infores:orphanet PMID:16636655|PMID:21633712 Assessed uuid:97833eb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1410 biolink:causes Orphanet:98993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2389 infores:orphanet PMID:16877416|PMID:25195561 Assessed uuid:97833eb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1411 biolink:causes Orphanet:98993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2394 infores:orphanet PMID:20142846 Assessed uuid:97833eb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2700 biolink:causes Orphanet:98993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4277 infores:orphanet PMID:21031021 Assessed uuid:97833eb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4284 biolink:causes Orphanet:98993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7103 infores:orphanet PMID:25803033 Assessed uuid:97833eba-d8a7-11f1-ae73-e4fade41113c NCBIGene:128866 biolink:causes Orphanet:98993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16171 infores:orphanet PMID:17701905 Assessed uuid:97833ebb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1969 biolink:causes Orphanet:98993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3386 infores:orphanet PMID:19306328|PMID:23447127 Assessed uuid:97833ebc-d8a7-11f1-ae73-e4fade41113c NCBIGene:55229 biolink:causes Orphanet:98993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19366 infores:orphanet PMID:30585370 Assessed uuid:97833ebd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:99001 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:8485574 Assessed uuid:97833ebe-d8a7-11f1-ae73-e4fade41113c NCBIGene:5015 biolink:causes Orphanet:99001 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8522 infores:orphanet PMID:25293953 Assessed uuid:97833ebf-d8a7-11f1-ae73-e4fade41113c NCBIGene:1495 biolink:causes Orphanet:99001 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2509 infores:orphanet PMID:26691986 Assessed uuid:97833ec0-d8a7-11f1-ae73-e4fade41113c NCBIGene:55213 biolink:causes Orphanet:99002 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18243 infores:orphanet PMID:27486781 Assessed uuid:97833ec1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:99000 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:9338584|PMID:10854112 Assessed uuid:97833ec2-d8a7-11f1-ae73-e4fade41113c NCBIGene:7439 biolink:causes Orphanet:99000 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12703 infores:orphanet PMID:10854112 Assessed uuid:97833ec3-d8a7-11f1-ae73-e4fade41113c NCBIGene:50939 biolink:causes Orphanet:99000 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18362 infores:orphanet PMID:25085631 Assessed uuid:97833ec4-d8a7-11f1-ae73-e4fade41113c NCBIGene:3617 biolink:causes Orphanet:99000 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6055 infores:orphanet PMID:23993198 Assessed uuid:97833ec5-d8a7-11f1-ae73-e4fade41113c NCBIGene:5961 biolink:causes Orphanet:99003 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9942 infores:orphanet PMID:17504850 Assessed uuid:97833ec6-d8a7-11f1-ae73-e4fade41113c NCBIGene:6687 biolink:causes Orphanet:99013 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11237 infores:orphanet PMID:17646629|PMID:20301286 Assessed uuid:97833ec7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5631 biolink:causes Orphanet:99014 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9462 infores:orphanet PMID:20301731 Assessed uuid:97833ec8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5354 biolink:causes Orphanet:99015 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9086 infores:orphanet PMID:20301361 Assessed uuid:97833ec9-d8a7-11f1-ae73-e4fade41113c NCBIGene:25 biolink:gene_associated_with_condition Orphanet:585909 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:76 infores:orphanet PMID:30561755 Assessed uuid:97833eca-d8a7-11f1-ae73-e4fade41113c NCBIGene:613 biolink:gene_associated_with_condition Orphanet:585909 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1014 infores:orphanet PMID:23491079 Assessed uuid:97833ecb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:gene_associated_with_condition Orphanet:585909 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:1787 infores:orphanet PMID:18838613 Assessed uuid:97833ecc-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:gene_associated_with_condition Orphanet:585909 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:11998 infores:orphanet PMID:34218582 Assessed uuid:97833ecd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:causes Orphanet:585909 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3765 infores:orphanet PMID:16234090 Assessed uuid:97833ece-d8a7-11f1-ae73-e4fade41113c NCBIGene:10320 biolink:gene_associated_with_condition Orphanet:585909 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:13176 infores:orphanet PMID:19129520|PMID:23751147|PMID:19770381|PMID:18408710 Assessed uuid:97833ecf-d8a7-11f1-ae73-e4fade41113c NCBIGene:3107 biolink:contributes_to Orphanet:585909 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4933 infores:orphanet PMID:25163702 Assessed uuid:97833ed0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2625 biolink:contributes_to Orphanet:585936 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4172 infores:orphanet PMID:23996088|PMID:24141364|PMID:24203929 Assessed uuid:97833ed1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5305 biolink:contributes_to Orphanet:585936 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:8997 infores:orphanet PMID:23996088 Assessed uuid:97833ed2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4297 biolink:gene_associated_with_condition Orphanet:585918 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7132 infores:orphanet PMID:30487223 Assessed uuid:97833ed3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4001 biolink:causes Orphanet:99027 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6637 infores:orphanet PMID:24501781|PMID:23649844 Assessed uuid:97833ed4-d8a7-11f1-ae73-e4fade41113c NCBIGene:2120 biolink:gene_associated_with_condition Orphanet:585929 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3495 infores:orphanet PMID:23491079 Assessed uuid:97833ed5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6929 biolink:gene_associated_with_condition Orphanet:585956 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11633 infores:orphanet PMID:31575852 Assessed uuid:97833ed6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5087 biolink:gene_associated_with_condition Orphanet:585956 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8632 infores:orphanet PMID:31575852 Assessed uuid:97833ed7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3492 biolink:gene_associated_with_condition Orphanet:585948 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:5477 infores:orphanet PMID:1554798 Assessed uuid:97833ed8-d8a7-11f1-ae73-e4fade41113c NCBIGene:55997 biolink:gene_associated_with_condition Orphanet:99042 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:18292 infores:orphanet PMID:11799476 Not yet assessed uuid:97833ed9-d8a7-11f1-ae73-e4fade41113c NCBIGene:50 biolink:causes Orphanet:98676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:118 infores:orphanet PMID:25351951 Assessed uuid:97833eda-d8a7-11f1-ae73-e4fade41113c NCBIGene:84816 biolink:causes Orphanet:98676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18647 infores:orphanet PMID:26593267 Assessed uuid:97833edb-d8a7-11f1-ae73-e4fade41113c NCBIGene:51102 biolink:causes Orphanet:98676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19691 infores:orphanet PMID:37734847 Assessed uuid:97833edc-d8a7-11f1-ae73-e4fade41113c NCBIGene:10730 biolink:causes Orphanet:98676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12843 infores:orphanet PMID:27495975 Assessed uuid:97833edd-d8a7-11f1-ae73-e4fade41113c NCBIGene:27349 biolink:causes Orphanet:98676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29622 infores:orphanet PMID:31915829 Assessed uuid:97833ede-d8a7-11f1-ae73-e4fade41113c NCBIGene:5479 biolink:causes Orphanet:98673 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9255 infores:orphanet PMID:41045073 Assessed uuid:97833edf-d8a7-11f1-ae73-e4fade41113c NCBIGene:4976 biolink:causes Orphanet:98673 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8140 infores:orphanet PMID:20301426 Assessed uuid:97833ee0-d8a7-11f1-ae73-e4fade41113c NCBIGene:10059 biolink:causes Orphanet:98673 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2973 infores:orphanet PMID:28969390 Assessed uuid:97833ee1-d8a7-11f1-ae73-e4fade41113c NCBIGene:9997 biolink:causes Orphanet:98619 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10604 infores:orphanet PMID:23643385 Assessed uuid:97833ee2-d8a7-11f1-ae73-e4fade41113c NCBIGene:55214 biolink:causes Orphanet:98619 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19317 infores:orphanet PMID:21885030 Assessed uuid:97833ee3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4043 biolink:causes Orphanet:98619 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6701 infores:orphanet PMID:23830514 Assessed loss_of_function_variant_form uuid:97833ee4-d8a7-11f1-ae73-e4fade41113c NCBIGene:283375 biolink:causes Orphanet:98619 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20502 infores:orphanet PMID:24891338 Assessed uuid:97833ee5-d8a7-11f1-ae73-e4fade41113c NCBIGene:29968 biolink:causes Orphanet:583602 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19129 infores:orphanet PMID:25152457 Assessed uuid:97833ee6-d8a7-11f1-ae73-e4fade41113c NCBIGene:26227 biolink:causes Orphanet:583607 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8923 infores:orphanet PMID:24836451 Assessed loss_of_function_variant_form uuid:97833ee7-d8a7-11f1-ae73-e4fade41113c NCBIGene:5723 biolink:causes Orphanet:583612 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9577 infores:orphanet PMID:25152457 Assessed uuid:97833ee8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:583097 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8975 infores:orphanet PMID:28846548 Assessed uuid:97833ee9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7337 biolink:gene_associated_with_condition Orphanet:98795 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12496 infores:orphanet PMID:22670133|PMID:24876791|PMID:25212744|PMID:20301323 Assessed uuid:97833eea-d8a7-11f1-ae73-e4fade41113c NCBIGene:7337 biolink:gene_associated_with_condition Orphanet:98794 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:12496 infores:orphanet PMID:22670133|PMID:24876791|PMID:25212744|PMID:20301323 Assessed uuid:97833eeb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4948 biolink:gene_associated_with_condition Orphanet:98794 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:8101 infores:orphanet PMID:10905897|PMID:20301323 Assessed uuid:97833eec-d8a7-11f1-ae73-e4fade41113c NCBIGene:3040 biolink:gene_associated_with_condition Orphanet:98791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4824 infores:orphanet Assessed uuid:97833eed-d8a7-11f1-ae73-e4fade41113c NCBIGene:3039 biolink:gene_associated_with_condition Orphanet:98791 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4823 infores:orphanet Assessed uuid:97833eee-d8a7-11f1-ae73-e4fade41113c NCBIGene:55145 biolink:causes Orphanet:98806 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20856 infores:orphanet PMID:20301334 Assessed uuid:97833eef-d8a7-11f1-ae73-e4fade41113c NCBIGene:10382 biolink:causes Orphanet:98805 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20774 infores:orphanet Assessed uuid:97833ef0-d8a7-11f1-ae73-e4fade41113c NCBIGene:57010 biolink:causes Orphanet:98784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1386 infores:orphanet PMID:29108277 Assessed uuid:97833ef1-d8a7-11f1-ae73-e4fade41113c NCBIGene:1137 biolink:causes Orphanet:98784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1958 infores:orphanet PMID:7550350|PMID:20301348 Assessed uuid:97833ef2-d8a7-11f1-ae73-e4fade41113c NCBIGene:1135 biolink:causes Orphanet:98784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1956 infores:orphanet PMID:16826524|PMID:20301348 Assessed uuid:97833ef3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1141 biolink:causes Orphanet:98784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1962 infores:orphanet PMID:11062464|PMID:20301348 Assessed uuid:97833ef4-d8a7-11f1-ae73-e4fade41113c NCBIGene:57582 biolink:causes Orphanet:98784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18865 infores:orphanet PMID:23086396 Assessed uuid:97833ef5-d8a7-11f1-ae73-e4fade41113c NCBIGene:9681 biolink:causes Orphanet:98784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:18423 infores:orphanet PMID:23542697|PMID:23542701 Assessed loss_of_function_variant_form uuid:97833ef6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1392 biolink:causes Orphanet:98784 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2355 infores:orphanet PMID:16222669|PMID:20301348 Assessed uuid:97833ef7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2259 biolink:causes Orphanet:98764 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3671 infores:orphanet Assessed uuid:97833ef8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5582 biolink:causes Orphanet:98763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9402 infores:orphanet Assessed uuid:97833ef9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6712 biolink:causes Orphanet:98766 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11276 infores:orphanet PMID:20301317 Assessed uuid:97833efa-d8a7-11f1-ae73-e4fade41113c NCBIGene:25894 biolink:gene_associated_with_condition Orphanet:98765 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:24501 infores:orphanet PMID:21267591|PMID:18293026|PMID:20301317 Not yet assessed uuid:97833efb-d8a7-11f1-ae73-e4fade41113c NCBIGene:724066 biolink:causes Orphanet:98760 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:32925 infores:orphanet Assessed uuid:97833efc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6315 biolink:causes Orphanet:98760 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10561 infores:orphanet Assessed uuid:97833efd-d8a7-11f1-ae73-e4fade41113c NCBIGene:6908 biolink:causes Orphanet:98759 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11588 infores:orphanet Assessed uuid:97833efe-d8a7-11f1-ae73-e4fade41113c NCBIGene:5521 biolink:causes Orphanet:98762 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9305 infores:orphanet Assessed uuid:97833eff-d8a7-11f1-ae73-e4fade41113c NCBIGene:25814 biolink:causes Orphanet:98761 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10549 infores:orphanet Assessed uuid:97833f00-d8a7-11f1-ae73-e4fade41113c NCBIGene:3752 biolink:causes Orphanet:98772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6239 infores:orphanet PMID:22890214 Assessed uuid:97833f01-d8a7-11f1-ae73-e4fade41113c NCBIGene:3475 biolink:causes Orphanet:98771 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5456 infores:orphanet Assessed uuid:97833f02-d8a7-11f1-ae73-e4fade41113c NCBIGene:339453 biolink:causes Orphanet:98773 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25186 infores:orphanet PMID:25070513 Assessed uuid:97833f03-d8a7-11f1-ae73-e4fade41113c NCBIGene:3748 biolink:causes Orphanet:98768 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6235 infores:orphanet Assessed uuid:97833f04-d8a7-11f1-ae73-e4fade41113c NCBIGene:146057 biolink:causes Orphanet:98767 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19141 infores:orphanet PMID:20301317 Assessed uuid:97833f05-d8a7-11f1-ae73-e4fade41113c NCBIGene:3708 biolink:causes Orphanet:98769 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6180 infores:orphanet Assessed uuid:97833f06-d8a7-11f1-ae73-e4fade41113c NCBIGene:54870 biolink:causes Orphanet:580940 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24713 infores:orphanet PMID:28692176|PMID:30281152 Assessed uuid:97833f07-d8a7-11f1-ae73-e4fade41113c NCBIGene:51548 biolink:causes Orphanet:580933 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14934 infores:orphanet PMID:29555651 Assessed loss_of_function_variant_form uuid:97833f08-d8a7-11f1-ae73-e4fade41113c NCBIGene:6310 biolink:causes Orphanet:98755 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10548 infores:orphanet Assessed uuid:97833f09-d8a7-11f1-ae73-e4fade41113c NCBIGene:6311 biolink:causes Orphanet:98756 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10555 infores:orphanet Assessed uuid:97833f0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:773 biolink:causes Orphanet:98758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1388 infores:orphanet PMID:20301317 Assessed uuid:97833f0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8989 biolink:causes Orphanet:581271 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:497 infores:orphanet PMID:28436534 Assessed uuid:97833f0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6638 biolink:gene_associated_with_condition Orphanet:98754 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:11164 infores:orphanet PMID:20301505 Assessed uuid:97833f0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:54551 biolink:gene_associated_with_condition Orphanet:98754 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6814 infores:orphanet PMID:20301505 Assessed uuid:97833f0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4692 biolink:gene_associated_with_condition Orphanet:98754 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7675 infores:orphanet PMID:20301505 Assessed uuid:97833f0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4948 biolink:gene_associated_with_condition Orphanet:98754 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:8101 infores:orphanet PMID:20301505 Assessed uuid:97833f10-d8a7-11f1-ae73-e4fade41113c NCBIGene:2626 biolink:causes Orphanet:576232 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4173 infores:orphanet PMID:17643447 Assessed loss_of_function_variant_form uuid:97833f11-d8a7-11f1-ae73-e4fade41113c NCBIGene:78987 biolink:causes Orphanet:576235 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14630 infores:orphanet PMID:12632326|PMID:15096951|PMID:21080147 Assessed loss_of_function_variant_form uuid:97833f12-d8a7-11f1-ae73-e4fade41113c NCBIGene:4208 biolink:contributes_to Orphanet:576227 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6996 infores:orphanet PMID:35719119 Assessed uuid:97833f13-d8a7-11f1-ae73-e4fade41113c NCBIGene:5476 biolink:causes Orphanet:575553 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9251 infores:orphanet PMID:31177426 Assessed uuid:97833f14-d8a7-11f1-ae73-e4fade41113c NCBIGene:58484 biolink:causes Orphanet:576349 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16412 infores:orphanet PMID:25385754|PMID:31953710|PMID:28957823|PMID:29247997|PMID:29496273 Assessed uuid:97833f15-d8a7-11f1-ae73-e4fade41113c NCBIGene:23314 biolink:causes Orphanet:576283 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21637 infores:orphanet PMID:29023086|PMID:31021519 Assessed uuid:97833f16-d8a7-11f1-ae73-e4fade41113c NCBIGene:3716 biolink:causes Orphanet:574957 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6190 infores:orphanet PMID:30264912 Assessed uuid:97833f17-d8a7-11f1-ae73-e4fade41113c NCBIGene:3665 biolink:gene_associated_with_condition Orphanet:574918 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:6122 infores:orphanet PMID:25814066 Not yet assessed uuid:97833f18-d8a7-11f1-ae73-e4fade41113c NCBIGene:4920 biolink:causes Orphanet:572385 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10257 infores:orphanet PMID:24954533|PMID:18554391 Assessed gain_of_function_variant_form uuid:97833f19-d8a7-11f1-ae73-e4fade41113c NCBIGene:668 biolink:causes Orphanet:572361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1092 infores:orphanet PMID:30029625|PMID:31823134 Assessed uuid:97833f1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2677 biolink:causes Orphanet:98434 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4247 infores:orphanet PMID:16720838 Assessed uuid:97833f1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:79001 biolink:causes Orphanet:98434 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23663 infores:orphanet PMID:14765194 Assessed uuid:97833f1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4938 biolink:causes Orphanet:572428 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8086 infores:orphanet PMID:29455859|PMID:31953170 Assessed uuid:97833f1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:79581 biolink:causes Orphanet:572543 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30224 infores:orphanet PMID:26973221|PMID:30793323 Assessed uuid:97833f1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:113278 biolink:causes Orphanet:572550 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16187 infores:orphanet PMID:26973221|PMID:30793323 Assessed uuid:97833f1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:29980 biolink:causes Orphanet:572773 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2993 infores:orphanet PMID:28191891|PMID:28630177|PMID:31191207|PMID:31320746 Assessed loss_of_function_variant_form uuid:97833f20-d8a7-11f1-ae73-e4fade41113c NCBIGene:10352 biolink:causes Orphanet:572798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12730 infores:orphanet PMID:28236339|PMID:29783990 Assessed uuid:97833f21-d8a7-11f1-ae73-e4fade41113c NCBIGene:29980 biolink:causes Orphanet:572768 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2993 infores:orphanet PMID:28191891|PMID:28630177|PMID:31191207|PMID:31320746 Assessed uuid:97833f22-d8a7-11f1-ae73-e4fade41113c NCBIGene:23499 biolink:causes Orphanet:572013 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13664 infores:orphanet PMID:30471716|PMID:24507697|PMID:24932993 Assessed uuid:97833f23-d8a7-11f1-ae73-e4fade41113c NCBIGene:387119 biolink:causes Orphanet:572013 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21638 infores:orphanet PMID:32097630 Assessed uuid:97833f24-d8a7-11f1-ae73-e4fade41113c NCBIGene:668 biolink:gene_associated_with_condition Orphanet:572333 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:1092 infores:orphanet PMID:21934608|PMID:25032695|PMID:24725350 Assessed uuid:97833f25-d8a7-11f1-ae73-e4fade41113c NCBIGene:668 biolink:causes Orphanet:572354 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1092 infores:orphanet PMID:30029625|PMID:31823134 Assessed uuid:97833f26-d8a7-11f1-ae73-e4fade41113c NCBIGene:55278 biolink:causes Orphanet:570491 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21020 infores:orphanet PMID:30237576|PMID:30283131 Assessed uuid:97833f27-d8a7-11f1-ae73-e4fade41113c NCBIGene:130589 biolink:causes Orphanet:570422 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24063 infores:orphanet PMID:30451973 Assessed uuid:97833f28-d8a7-11f1-ae73-e4fade41113c NCBIGene:10916 biolink:causes Orphanet:570371 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16353 infores:orphanet PMID:27120771 Assessed uuid:97833f29-d8a7-11f1-ae73-e4fade41113c NCBIGene:5053 biolink:causes Orphanet:708895 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8582 infores:orphanet PMID:29025426 Assessed uuid:97833f2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8243 biolink:causes Orphanet:708203 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11111 infores:orphanet PMID:26752331 Assessed uuid:97833f2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5198 biolink:causes Orphanet:708651 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8863 infores:orphanet PMID:40421664 Assessed uuid:97833f2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5430 biolink:causes Orphanet:708208 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9187 infores:orphanet PMID:31353023 Assessed uuid:97833f2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10522 biolink:causes Orphanet:714385 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14677 infores:orphanet PMID:24726472 Assessed uuid:97833f2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2916 biolink:causes Orphanet:714079 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4598 infores:orphanet PMID:17405131 Assessed uuid:97833f2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:4308 biolink:causes Orphanet:714079 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7146 infores:orphanet PMID:19896109|PMID:19896113 Assessed uuid:97833f30-d8a7-11f1-ae73-e4fade41113c NCBIGene:440435 biolink:causes Orphanet:714079 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31371 infores:orphanet PMID:22325361|PMID:22325362 Assessed uuid:97833f31-d8a7-11f1-ae73-e4fade41113c NCBIGene:345193 biolink:causes Orphanet:714079 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24783 infores:orphanet PMID:23246293 Assessed uuid:97833f32-d8a7-11f1-ae73-e4fade41113c NCBIGene:57010 biolink:causes Orphanet:714070 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1386 infores:orphanet PMID:16960802 Assessed uuid:97833f33-d8a7-11f1-ae73-e4fade41113c NCBIGene:778 biolink:causes Orphanet:714070 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1393 infores:orphanet PMID:20301423 Assessed uuid:97833f34-d8a7-11f1-ae73-e4fade41113c NCBIGene:93589 biolink:causes Orphanet:714070 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20202 infores:orphanet PMID:19578023 Assessed uuid:97833f35-d8a7-11f1-ae73-e4fade41113c NCBIGene:4615 biolink:causes Orphanet:714046 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7562 infores:orphanet PMID:34667996 Assessed uuid:97833f36-d8a7-11f1-ae73-e4fade41113c NCBIGene:6010 biolink:causes Orphanet:714096 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10012 infores:orphanet PMID:9888392 Assessed uuid:97833f37-d8a7-11f1-ae73-e4fade41113c NCBIGene:2779 biolink:causes Orphanet:714096 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4393 infores:orphanet PMID:8673138|PMID:22190596 Assessed uuid:97833f38-d8a7-11f1-ae73-e4fade41113c NCBIGene:5158 biolink:causes Orphanet:714096 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8786 infores:orphanet PMID:8075643 Assessed uuid:97833f39-d8a7-11f1-ae73-e4fade41113c NCBIGene:10551 biolink:causes Orphanet:714484 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:328 infores:orphanet PMID:34237462 Assessed loss_of_function_variant_form uuid:97833f3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7482 biolink:causes Orphanet:714487 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12781 infores:orphanet PMID:29909964|PMID:33526876 Assessed uuid:97833f3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:55139 biolink:causes Orphanet:714477 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25527 infores:orphanet PMID:28302725 Assessed loss_of_function_variant_form uuid:97833f3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10590 biolink:causes Orphanet:714481 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16941 infores:orphanet PMID:31663849 Assessed loss_of_function_variant_form uuid:97833f3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10095 biolink:causes Orphanet:714496 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:704 infores:orphanet PMID:28368018 Assessed loss_of_function_variant_form uuid:97833f3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:57526 biolink:causes Orphanet:714652 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14270 infores:orphanet PMID:39187419|PMID:35503712 Assessed uuid:97833f3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:105371045 biolink:causes Orphanet:714490 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:52293 infores:orphanet PMID:36076104|PMID:38710080 Assessed uuid:97833f40-d8a7-11f1-ae73-e4fade41113c NCBIGene:7456 biolink:causes Orphanet:714493 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12736 infores:orphanet PMID:22231303 Assessed uuid:97833f41-d8a7-11f1-ae73-e4fade41113c NCBIGene:4781 biolink:causes Orphanet:714407 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7785 infores:orphanet PMID:30388402|PMID:36756855 Assessed uuid:97833f42-d8a7-11f1-ae73-e4fade41113c NCBIGene:22900 biolink:causes Orphanet:714410 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17057 infores:orphanet PMID:29408806 Assessed loss_of_function_variant_form uuid:97833f43-d8a7-11f1-ae73-e4fade41113c NCBIGene:1487 biolink:causes Orphanet:714399 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2494 infores:orphanet PMID:27094857 Assessed uuid:97833f44-d8a7-11f1-ae73-e4fade41113c NCBIGene:6773 biolink:causes Orphanet:714429 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11363 infores:orphanet PMID:31836668|PMID:32092142|PMID:36753016 Assessed uuid:97833f45-d8a7-11f1-ae73-e4fade41113c NCBIGene:60468 biolink:causes Orphanet:714472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14078 infores:orphanet PMID:28530713 Assessed uuid:97833f46-d8a7-11f1-ae73-e4fade41113c NCBIGene:4781 biolink:gene_associated_with_condition Orphanet:714413 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7785 infores:orphanet PMID:36756855 Assessed uuid:97833f47-d8a7-11f1-ae73-e4fade41113c NCBIGene:6814 biolink:causes Orphanet:714423 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11446 infores:orphanet PMID:33891011 Assessed uuid:97833f48-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:715128 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:15481886 Assessed uuid:97833f49-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:715128 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4827 infores:orphanet PMID:21886666 Assessed uuid:97833f4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:715125 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:21886666 Assessed uuid:97833f4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:714785 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:26637981 Assessed uuid:97833f4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7010 biolink:causes Orphanet:714785 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11724 infores:orphanet PMID:26637981 Assessed uuid:97833f4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7010 biolink:causes Orphanet:714806 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11724 infores:orphanet PMID:19079259 Assessed uuid:97833f4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:714737 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:31909475 Assessed uuid:97833f4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:714737 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4379 infores:orphanet PMID:28120216 Assessed uuid:97833f50-d8a7-11f1-ae73-e4fade41113c NCBIGene:3040 biolink:causes Orphanet:715154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4824 infores:orphanet PMID:32411491|PMID:11134494 Assessed uuid:97833f51-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:715157 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:28066926 Assessed uuid:97833f52-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:gene_associated_with_condition Orphanet:715135 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4827 infores:orphanet PMID:18932069 Assessed uuid:97833f53-d8a7-11f1-ae73-e4fade41113c NCBIGene:3045 biolink:gene_associated_with_condition Orphanet:715135 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4829 infores:orphanet PMID:18932069 Assessed uuid:97833f54-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:gene_associated_with_condition Orphanet:715140 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4827 infores:orphanet PMID:18932069 Assessed uuid:97833f55-d8a7-11f1-ae73-e4fade41113c NCBIGene:3045 biolink:gene_associated_with_condition Orphanet:715140 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4829 infores:orphanet PMID:18932069 Assessed uuid:97833f56-d8a7-11f1-ae73-e4fade41113c NCBIGene:3040 biolink:gene_associated_with_condition Orphanet:715143 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4824 infores:orphanet PMID:18249014|PMID:25690803|PMID:34434372 Assessed uuid:97833f57-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:715143 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:18249014|PMID:25690803|PMID:34434372 Assessed uuid:97833f58-d8a7-11f1-ae73-e4fade41113c NCBIGene:3039 biolink:gene_associated_with_condition Orphanet:715143 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:4823 infores:orphanet PMID:18249014|PMID:25690803|PMID:34434372 Assessed uuid:97833f59-d8a7-11f1-ae73-e4fade41113c NCBIGene:6098 biolink:gene_associated_with_condition Orphanet:715701 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10261 infores:orphanet PMID:36316040|PMID:35404193 Assessed uuid:97833f5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:238 biolink:gene_associated_with_condition Orphanet:715697 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:427 infores:orphanet PMID:36910660|PMID:37000961|PMID:36996378 Assessed uuid:97833f5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4914 biolink:gene_associated_with_condition Orphanet:715694 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8031 infores:orphanet PMID:36601394|PMID:31554817|PMID:35034013 Assessed uuid:97833f5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4916 biolink:gene_associated_with_condition Orphanet:715694 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8033 infores:orphanet PMID:36601394|PMID:31554817|PMID:35034013 Assessed uuid:97833f5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4915 biolink:gene_associated_with_condition Orphanet:715694 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8032 infores:orphanet PMID:36601394|PMID:31554817|PMID:35034013 Assessed uuid:97833f5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:9419 biolink:causes Orphanet:715640 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14312 infores:orphanet PMID:24389050 Assessed uuid:97833f5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1763 biolink:causes Orphanet:715635 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2939 infores:orphanet PMID:37055165 Assessed uuid:97833f60-d8a7-11f1-ae73-e4fade41113c NCBIGene:5984 biolink:causes Orphanet:715623 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9972 infores:orphanet PMID:39106866 Assessed loss_of_function_variant_form uuid:97833f61-d8a7-11f1-ae73-e4fade41113c NCBIGene:3020 biolink:causes Orphanet:715950 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4764 infores:orphanet PMID:40402198|PMID:36493960 Assessed uuid:97833f62-d8a7-11f1-ae73-e4fade41113c NCBIGene:546 biolink:gene_associated_with_condition Orphanet:715721 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:886 infores:orphanet PMID:39848278 Assessed uuid:97833f63-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:gene_associated_with_condition Orphanet:715721 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:1787 infores:orphanet PMID:39848278 Assessed uuid:97833f64-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:gene_associated_with_condition Orphanet:715721 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:7765 infores:orphanet PMID:39848278 Assessed uuid:97833f65-d8a7-11f1-ae73-e4fade41113c NCBIGene:1030 biolink:gene_associated_with_condition Orphanet:715721 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:1788 infores:orphanet PMID:29564591 Assessed uuid:97833f66-d8a7-11f1-ae73-e4fade41113c NCBIGene:4233 biolink:gene_associated_with_condition Orphanet:715704 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7029 infores:orphanet PMID:38902810|PMID:31554817 Assessed uuid:97833f67-d8a7-11f1-ae73-e4fade41113c NCBIGene:1642 biolink:causes Orphanet:716109 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2717 infores:orphanet PMID:33743206 Assessed uuid:97833f68-d8a7-11f1-ae73-e4fade41113c NCBIGene:8452 biolink:causes Orphanet:716116 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2553 infores:orphanet PMID:39301775 Assessed loss_of_function_variant_form uuid:97833f69-d8a7-11f1-ae73-e4fade41113c NCBIGene:1145 biolink:causes Orphanet:716772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1966 infores:orphanet PMID:22382357 Assessed uuid:97833f6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1134 biolink:causes Orphanet:716758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1955 infores:orphanet PMID:20301347 Assessed gain_of_function_variant_form uuid:97833f6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:1140 biolink:causes Orphanet:716758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1961 infores:orphanet PMID:20301347 Assessed gain_of_function_variant_form uuid:97833f6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1144 biolink:causes Orphanet:716758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1965 infores:orphanet PMID:20301347 Assessed gain_of_function_variant_form uuid:97833f6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1145 biolink:causes Orphanet:716758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1966 infores:orphanet PMID:20301347 Assessed gain_of_function_variant_form uuid:97833f6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1134 biolink:causes Orphanet:716765 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1955 infores:orphanet PMID:20301347 Assessed loss_of_function_variant_form uuid:97833f6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1140 biolink:causes Orphanet:716765 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1961 infores:orphanet PMID:20301347 Assessed loss_of_function_variant_form uuid:97833f70-d8a7-11f1-ae73-e4fade41113c NCBIGene:1144 biolink:causes Orphanet:716765 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1965 infores:orphanet PMID:20301347 Assessed loss_of_function_variant_form uuid:97833f71-d8a7-11f1-ae73-e4fade41113c NCBIGene:1145 biolink:causes Orphanet:716765 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1966 infores:orphanet PMID:20301347 Assessed loss_of_function_variant_form uuid:97833f72-d8a7-11f1-ae73-e4fade41113c NCBIGene:285489 biolink:causes Orphanet:716825 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26594 infores:orphanet PMID:20301347 Assessed uuid:97833f73-d8a7-11f1-ae73-e4fade41113c NCBIGene:4593 biolink:causes Orphanet:716825 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7525 infores:orphanet PMID:20301347 Assessed uuid:97833f74-d8a7-11f1-ae73-e4fade41113c NCBIGene:4038 biolink:causes Orphanet:716825 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6696 infores:orphanet PMID:24234652 Assessed uuid:97833f75-d8a7-11f1-ae73-e4fade41113c NCBIGene:375790 biolink:causes Orphanet:716825 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:329 infores:orphanet PMID:22205389|PMID:19631309|PMID:20301347 Assessed uuid:97833f76-d8a7-11f1-ae73-e4fade41113c NCBIGene:1134 biolink:causes Orphanet:716816 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1955 infores:orphanet PMID:36634413 Assessed uuid:97833f77-d8a7-11f1-ae73-e4fade41113c NCBIGene:1140 biolink:causes Orphanet:716816 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1961 infores:orphanet PMID:10562302 Assessed uuid:97833f78-d8a7-11f1-ae73-e4fade41113c NCBIGene:1144 biolink:causes Orphanet:716816 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1965 infores:orphanet PMID:16916845 Assessed uuid:97833f79-d8a7-11f1-ae73-e4fade41113c NCBIGene:1145 biolink:causes Orphanet:716816 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1966 infores:orphanet PMID:10211467 Assessed uuid:97833f7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1103 biolink:causes Orphanet:716893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1912 infores:orphanet PMID:20301347 Assessed loss_of_function_variant_form uuid:97833f7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9581 biolink:causes Orphanet:716893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30228 infores:orphanet PMID:24610330|PMID:28726805 Assessed uuid:97833f7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:60482 biolink:causes Orphanet:716893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:14025 infores:orphanet PMID:27569547 Assessed gain_of_function_variant_form uuid:97833f7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6572 biolink:causes Orphanet:716893 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10936 infores:orphanet PMID:27590285 Assessed uuid:97833f7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4649 biolink:causes Orphanet:716889 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7608 infores:orphanet PMID:27259756 Assessed uuid:97833f7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:6329 biolink:causes Orphanet:716881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10591 infores:orphanet PMID:20301347 Assessed uuid:97833f80-d8a7-11f1-ae73-e4fade41113c NCBIGene:6576 biolink:causes Orphanet:716917 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10979 infores:orphanet Assessed uuid:97833f81-d8a7-11f1-ae73-e4fade41113c NCBIGene:79736 biolink:causes Orphanet:716917 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26223 infores:orphanet PMID:37239850|PMID:36823193 Assessed uuid:97833f82-d8a7-11f1-ae73-e4fade41113c NCBIGene:127833 biolink:causes Orphanet:716908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11510 infores:orphanet PMID:25192047 Assessed uuid:97833f83-d8a7-11f1-ae73-e4fade41113c NCBIGene:23025 biolink:causes Orphanet:716903 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23150 infores:orphanet PMID:41125872 Assessed uuid:97833f84-d8a7-11f1-ae73-e4fade41113c NCBIGene:6843 biolink:causes Orphanet:716903 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12642 infores:orphanet PMID:28253535 Assessed uuid:97833f85-d8a7-11f1-ae73-e4fade41113c NCBIGene:6616 biolink:causes Orphanet:716903 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11132 infores:orphanet PMID:25381298|PMID:25792100 Assessed uuid:97833f86-d8a7-11f1-ae73-e4fade41113c NCBIGene:127833 biolink:causes Orphanet:716903 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11510 infores:orphanet PMID:32776697 Assessed loss_of_function_variant_form uuid:97833f87-d8a7-11f1-ae73-e4fade41113c NCBIGene:3911 biolink:causes Orphanet:716903 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6485 infores:orphanet PMID:29377152 Assessed uuid:97833f88-d8a7-11f1-ae73-e4fade41113c NCBIGene:22895 biolink:causes Orphanet:716903 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17056 infores:orphanet PMID:29441694 Assessed uuid:97833f89-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:717611 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:38880808 Assessed uuid:97833f8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7010 biolink:causes Orphanet:717611 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11724 infores:orphanet PMID:38880808 Assessed uuid:97833f8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:23067 biolink:gene_associated_with_condition Orphanet:717812 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:29187 infores:orphanet PMID:27106595 Assessed uuid:97833f8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:84678 biolink:gene_associated_with_condition Orphanet:717812 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:13610 infores:orphanet PMID:27106595 Assessed uuid:97833f8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:55250 biolink:causes Orphanet:717795 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18248 infores:orphanet PMID:25847581|PMID:34653680|PMID:33976153 Assessed uuid:97833f8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5861 biolink:gene_associated_with_condition Orphanet:717830 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:9758 infores:orphanet PMID:35134569 Assessed uuid:97833f8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:10097 biolink:gene_associated_with_condition Orphanet:717830 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:169 infores:orphanet PMID:35134569 Assessed uuid:97833f90-d8a7-11f1-ae73-e4fade41113c NCBIGene:26057 biolink:causes Orphanet:717823 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23575 infores:orphanet PMID:33909992 Assessed uuid:97833f91-d8a7-11f1-ae73-e4fade41113c NCBIGene:8364 biolink:causes Orphanet:717854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4787 infores:orphanet PMID:35202563 Assessed uuid:97833f92-d8a7-11f1-ae73-e4fade41113c NCBIGene:8367 biolink:causes Orphanet:717854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4790 infores:orphanet PMID:35202563 Assessed uuid:97833f93-d8a7-11f1-ae73-e4fade41113c NCBIGene:8294 biolink:causes Orphanet:717854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4793 infores:orphanet PMID:35202563 Assessed uuid:97833f94-d8a7-11f1-ae73-e4fade41113c NCBIGene:84678 biolink:causes Orphanet:717841 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13610 infores:orphanet PMID:40420380 Assessed uuid:97833f95-d8a7-11f1-ae73-e4fade41113c NCBIGene:7030 biolink:causes Orphanet:717846 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11752 infores:orphanet PMID:30595499|PMID:31833172 Assessed uuid:97833f96-d8a7-11f1-ae73-e4fade41113c NCBIGene:5058 biolink:causes Orphanet:717884 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8590 infores:orphanet PMID:37820543|PMID:36905087 Assessed uuid:97833f97-d8a7-11f1-ae73-e4fade41113c NCBIGene:5424 biolink:causes Orphanet:718047 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9175 infores:orphanet PMID:31449058|PMID:31629014 Assessed uuid:97833f98-d8a7-11f1-ae73-e4fade41113c NCBIGene:5425 biolink:causes Orphanet:718047 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9176 infores:orphanet PMID:31449058 Assessed uuid:97833f99-d8a7-11f1-ae73-e4fade41113c NCBIGene:5557 biolink:causes Orphanet:718037 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9369 infores:orphanet PMID:33060134|PMID:38773012 Assessed uuid:97833f9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:22820 biolink:causes Orphanet:718017 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2236 infores:orphanet PMID:33529166 Assessed uuid:97833f9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:90665 biolink:causes Orphanet:718255 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18502 infores:orphanet PMID:30341416 Assessed uuid:97833f9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:672 biolink:contributes_to Orphanet:694963 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1100 infores:orphanet PMID:34445631 Assessed uuid:97833f9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:contributes_to Orphanet:694963 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1101 infores:orphanet PMID:34445631 Assessed uuid:97833f9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6878 biolink:causes Orphanet:694946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11540 infores:orphanet PMID:25574841|PMID:32030742|PMID:35317131 Assessed uuid:97833f9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51341 biolink:causes Orphanet:694956 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18078 infores:orphanet PMID:34515416 Assessed uuid:97833fa0-d8a7-11f1-ae73-e4fade41113c NCBIGene:103 biolink:causes Orphanet:694356 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:225 infores:orphanet PMID:25243380|PMID:25604658 Assessed uuid:97833fa1-d8a7-11f1-ae73-e4fade41113c NCBIGene:318 biolink:causes Orphanet:694937 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8049 infores:orphanet PMID:38141063 Assessed loss_of_function_variant_form uuid:97833fa2-d8a7-11f1-ae73-e4fade41113c NCBIGene:54936 biolink:causes Orphanet:694922 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21304 infores:orphanet PMID:30100084 Assessed uuid:97833fa3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2050 biolink:causes Orphanet:693912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3395 infores:orphanet PMID:30760892 Assessed uuid:97833fa4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5921 biolink:causes Orphanet:693907 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9871 infores:orphanet PMID:14639529|PMID:21348050 Assessed uuid:97833fa5-d8a7-11f1-ae73-e4fade41113c NCBIGene:10771 biolink:causes Orphanet:694308 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16966 infores:orphanet PMID:38397245 Assessed uuid:97833fa6-d8a7-11f1-ae73-e4fade41113c NCBIGene:10555 biolink:causes Orphanet:696189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:325 infores:orphanet PMID:20301391 Assessed uuid:97833fa7-d8a7-11f1-ae73-e4fade41113c NCBIGene:857 biolink:causes Orphanet:696206 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1527 infores:orphanet PMID:18211975 Assessed uuid:97833fa8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5468 biolink:causes Orphanet:696242 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9236 infores:orphanet PMID:24980513|PMID:36806620 Assessed uuid:97833fa9-d8a7-11f1-ae73-e4fade41113c NCBIGene:26580 biolink:causes Orphanet:696289 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15832 infores:orphanet PMID:20301391 Assessed uuid:97833faa-d8a7-11f1-ae73-e4fade41113c NCBIGene:80267 biolink:causes Orphanet:695783 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16787 infores:orphanet PMID:34143952 Assessed uuid:97833fab-d8a7-11f1-ae73-e4fade41113c NCBIGene:6850 biolink:causes Orphanet:695807 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11491 infores:orphanet PMID:33782605 Assessed gain_of_function_variant_form uuid:97833fac-d8a7-11f1-ae73-e4fade41113c NCBIGene:729359 biolink:causes Orphanet:696063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29393 infores:orphanet PMID:35499779 Assessed uuid:97833fad-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:695147 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:34567471 Assessed uuid:97833fae-d8a7-11f1-ae73-e4fade41113c NCBIGene:29851 biolink:causes Orphanet:695183 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5351 infores:orphanet PMID:12577056 Assessed uuid:97833faf-d8a7-11f1-ae73-e4fade41113c NCBIGene:10320 biolink:causes Orphanet:695172 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13176 infores:orphanet PMID:32845957 Assessed uuid:97833fb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:23308 biolink:causes Orphanet:695191 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17087 infores:orphanet PMID:30498080 Assessed uuid:97833fb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:23324 biolink:causes Orphanet:695110 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29623 infores:orphanet PMID:35637269|PMID:31775018 Assessed uuid:97833fb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:695140 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:21250876 Assessed uuid:97833fb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:72 biolink:causes Orphanet:104077 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:145 infores:orphanet PMID:24591628 Assessed uuid:97833fb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:54828 biolink:causes Orphanet:697067 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14347 infores:orphanet PMID:34022130 Assessed uuid:97833fb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:9138 biolink:causes Orphanet:696942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:681 infores:orphanet PMID:30521495 Assessed uuid:97833fb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:30011 biolink:causes Orphanet:696945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13867 infores:orphanet PMID:29636373 Assessed uuid:97833fb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:8742 biolink:causes Orphanet:696931 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11927 infores:orphanet PMID:23493554 Assessed uuid:97833fb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:115650 biolink:causes Orphanet:696925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17755 infores:orphanet PMID:19666484 Assessed uuid:97833fb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:6690 biolink:contributes_to Orphanet:103918 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11244 infores:orphanet PMID:12360463|PMID:12011155 Assessed uuid:97833fba-d8a7-11f1-ae73-e4fade41113c NCBIGene:11330 biolink:contributes_to Orphanet:103918 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:2523 infores:orphanet PMID:22580415|PMID:19404200 Assessed uuid:97833fbb-d8a7-11f1-ae73-e4fade41113c NCBIGene:23495 biolink:causes Orphanet:696907 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18153 infores:orphanet PMID:16007086 Assessed uuid:97833fbc-d8a7-11f1-ae73-e4fade41113c NCBIGene:359948 biolink:causes Orphanet:696904 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:21729 infores:orphanet PMID:27016798 Assessed gain_of_function_variant_form uuid:97833fbd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1380 biolink:causes Orphanet:696894 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2336 infores:orphanet PMID:38817346|PMID:22035880 Assessed uuid:97833fbe-d8a7-11f1-ae73-e4fade41113c NCBIGene:2984 biolink:causes Orphanet:103908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4688 infores:orphanet PMID:25994218 Assessed uuid:97833fbf-d8a7-11f1-ae73-e4fade41113c NCBIGene:6550 biolink:causes Orphanet:103908 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11073 infores:orphanet PMID:26358773 Assessed loss_of_function_variant_form uuid:97833fc0-d8a7-11f1-ae73-e4fade41113c NCBIGene:11181 biolink:gene_associated_with_condition Orphanet:103909 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12266 infores:orphanet Not yet assessed uuid:97833fc1-d8a7-11f1-ae73-e4fade41113c NCBIGene:930 biolink:causes Orphanet:696881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1633 infores:orphanet PMID:21330302 Assessed uuid:97833fc2-d8a7-11f1-ae73-e4fade41113c NCBIGene:975 biolink:causes Orphanet:696881 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1701 infores:orphanet PMID:21970952 Assessed uuid:97833fc3-d8a7-11f1-ae73-e4fade41113c NCBIGene:4790 biolink:causes Orphanet:696874 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7794 infores:orphanet PMID:36356849 Assessed uuid:97833fc4-d8a7-11f1-ae73-e4fade41113c NCBIGene:861 biolink:gene_associated_with_condition Orphanet:102724 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10471 infores:orphanet PMID:19357394 Assessed uuid:97833fc5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3815 biolink:gene_associated_with_condition Orphanet:102724 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:6342 infores:orphanet PMID:23783394|PMID:24226631 Assessed uuid:97833fc6-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:gene_associated_with_condition Orphanet:102724 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:3765 infores:orphanet PMID:23783394 Assessed uuid:97833fc7-d8a7-11f1-ae73-e4fade41113c NCBIGene:862 biolink:gene_associated_with_condition Orphanet:102724 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1535 infores:orphanet PMID:19357394 Assessed uuid:97833fc8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1050 biolink:gene_associated_with_condition Orphanet:102724 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:1833 infores:orphanet Assessed uuid:97833fc9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4848 biolink:causes Orphanet:697764 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7878 infores:orphanet PMID:36224108 Assessed uuid:97833fca-d8a7-11f1-ae73-e4fade41113c NCBIGene:10320 biolink:causes Orphanet:697414 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13176 infores:orphanet PMID:35087518|PMID:36433803 Assessed uuid:97833fcb-d8a7-11f1-ae73-e4fade41113c NCBIGene:6487 biolink:causes Orphanet:697734 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10866 infores:orphanet PMID:37067065 Assessed uuid:97833fcc-d8a7-11f1-ae73-e4fade41113c NCBIGene:29927 biolink:causes Orphanet:697417 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18276 infores:orphanet PMID:28782633 Assessed uuid:97833fcd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5966 biolink:causes Orphanet:697394 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9954 infores:orphanet PMID:31103457 Assessed uuid:97833fce-d8a7-11f1-ae73-e4fade41113c NCBIGene:1147 biolink:causes Orphanet:697403 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1974 infores:orphanet PMID:34533979|PMID:39812688 Assessed uuid:97833fcf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2355 biolink:causes Orphanet:697356 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3798 infores:orphanet PMID:36197437 Assessed uuid:97833fd0-d8a7-11f1-ae73-e4fade41113c NCBIGene:22807 biolink:causes Orphanet:697389 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13177 infores:orphanet PMID:34826260 Assessed uuid:97833fd1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6326 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10588 infores:orphanet PMID:23935176 Assessed uuid:97833fd2-d8a7-11f1-ae73-e4fade41113c NCBIGene:6792 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11411 infores:orphanet PMID:18564362|PMID:22196487|PMID:22787626 Assessed uuid:97833fd3-d8a7-11f1-ae73-e4fade41113c NCBIGene:170302 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18060 infores:orphanet PMID:20506206|PMID:22787626 Assessed uuid:97833fd4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5277 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8957 infores:orphanet PMID:24357517 Assessed uuid:97833fd5-d8a7-11f1-ae73-e4fade41113c NCBIGene:6709 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11273 infores:orphanet PMID:22196487|PMID:18065176 Assessed uuid:97833fd6-d8a7-11f1-ae73-e4fade41113c NCBIGene:23236 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15917 infores:orphanet PMID:20833646|PMID:22196487 Assessed uuid:97833fd7-d8a7-11f1-ae73-e4fade41113c NCBIGene:2904 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:4586 infores:orphanet PMID:24272827 Assessed gain_of_function_variant_form uuid:97833fd8-d8a7-11f1-ae73-e4fade41113c NCBIGene:11152 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28912 infores:orphanet PMID:27030146 Assessed uuid:97833fd9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4915 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8032 infores:orphanet PMID:29100083 Assessed uuid:97833fda-d8a7-11f1-ae73-e4fade41113c NCBIGene:150094 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11142 infores:orphanet PMID:25839329 Assessed uuid:97833fdb-d8a7-11f1-ae73-e4fade41113c NCBIGene:60558 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25799 infores:orphanet PMID:26486472 Assessed uuid:97833fdc-d8a7-11f1-ae73-e4fade41113c NCBIGene:10695 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11968 infores:orphanet PMID:29394991 Assessed uuid:97833fdd-d8a7-11f1-ae73-e4fade41113c NCBIGene:221692 biolink:causes Orphanet:697160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20990 infores:orphanet PMID:30256902 Assessed uuid:97833fde-d8a7-11f1-ae73-e4fade41113c NCBIGene:22806 biolink:causes Orphanet:699593 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13178 infores:orphanet PMID:34155405 Assessed uuid:97833fdf-d8a7-11f1-ae73-e4fade41113c NCBIGene:22806 biolink:causes Orphanet:699590 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13178 infores:orphanet PMID:38015619 Assessed uuid:97833fe0-d8a7-11f1-ae73-e4fade41113c NCBIGene:8517 biolink:causes Orphanet:699605 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5961 infores:orphanet PMID:31874111|PMID:35289316 Assessed uuid:97833fe1-d8a7-11f1-ae73-e4fade41113c NCBIGene:22807 biolink:causes Orphanet:699599 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13177 infores:orphanet PMID:37316189 Assessed uuid:97833fe2-d8a7-11f1-ae73-e4fade41113c NCBIGene:3458 biolink:causes Orphanet:699618 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:5438 infores:orphanet PMID:32163377 Assessed loss_of_function_variant_form uuid:97833fe3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3659 biolink:causes Orphanet:699615 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6116 infores:orphanet PMID:36736301 Assessed uuid:97833fe4-d8a7-11f1-ae73-e4fade41113c NCBIGene:10430 biolink:causes Orphanet:698085 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30414 infores:orphanet PMID:36044892 Assessed uuid:97833fe5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7862 biolink:causes Orphanet:698090 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14255 infores:orphanet PMID:39837771|PMID:27939639|PMID:27939640 Assessed uuid:97833fe6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:699822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:34334973|PMID:20022270 Assessed uuid:97833fe7-d8a7-11f1-ae73-e4fade41113c NCBIGene:3045 biolink:causes Orphanet:699822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4829 infores:orphanet PMID:34334973|PMID:20022270 Assessed uuid:97833fe8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7837 biolink:gene_associated_with_condition Orphanet:699850 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14966 infores:orphanet PMID:37188826 Assessed uuid:97833fe9-d8a7-11f1-ae73-e4fade41113c NCBIGene:23040 biolink:gene_associated_with_condition Orphanet:699850 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:7623 infores:orphanet PMID:37188826 Assessed uuid:97833fea-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:700090 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:32595482 Assessed uuid:97833feb-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:700111 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:23192960|PMID:37554704 Assessed uuid:97833fec-d8a7-11f1-ae73-e4fade41113c NCBIGene:3043 biolink:causes Orphanet:700107 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4827 infores:orphanet PMID:23388674|PMID:34113458 Assessed uuid:97833fed-d8a7-11f1-ae73-e4fade41113c NCBIGene:1080 biolink:gene_associated_with_condition Orphanet:700124 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:1884 infores:orphanet PMID:22572128 Not yet assessed uuid:97833fee-d8a7-11f1-ae73-e4fade41113c NCBIGene:6690 biolink:causes Orphanet:700124 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11244 infores:orphanet PMID:17274009 Assessed loss_of_function_variant_form uuid:97833fef-d8a7-11f1-ae73-e4fade41113c NCBIGene:154881 biolink:causes Orphanet:699708 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21957 infores:orphanet PMID:39350080 Assessed uuid:97833ff0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5538 biolink:causes Orphanet:699718 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9325 infores:orphanet PMID:32412666|PMID:34733232|PMID:7637805 Assessed uuid:97833ff1-d8a7-11f1-ae73-e4fade41113c NCBIGene:5538 biolink:causes Orphanet:699734 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9325 infores:orphanet PMID:32412666|PMID:34733232|PMID:7637805 Assessed uuid:97833ff2-d8a7-11f1-ae73-e4fade41113c NCBIGene:5538 biolink:causes Orphanet:699739 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9325 infores:orphanet PMID:32412666|PMID:34733232|PMID:7637805 Assessed uuid:97833ff3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5538 biolink:causes Orphanet:699745 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9325 infores:orphanet PMID:32412666|PMID:34733232|PMID:7637805 Assessed uuid:97833ff4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1200 biolink:causes Orphanet:699751 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2073 infores:orphanet PMID:32412666|PMID:34733232 Assessed uuid:97833ff5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1200 biolink:causes Orphanet:699761 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2073 infores:orphanet PMID:32412666|PMID:34733232 Assessed uuid:97833ff6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1200 biolink:causes Orphanet:699769 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2073 infores:orphanet PMID:32412666|PMID:34733232 Assessed uuid:97833ff7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1201 biolink:causes Orphanet:699780 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2074 infores:orphanet PMID:15965709 Assessed uuid:97833ff8-d8a7-11f1-ae73-e4fade41113c NCBIGene:1201 biolink:causes Orphanet:699796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2074 infores:orphanet PMID:15965709 Assessed uuid:97833ff9-d8a7-11f1-ae73-e4fade41113c NCBIGene:1203 biolink:causes Orphanet:699802 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2076 infores:orphanet PMID:2412666|PMID:34733232|PMID:34684815 Assessed uuid:97833ffa-d8a7-11f1-ae73-e4fade41113c NCBIGene:1203 biolink:causes Orphanet:699807 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2076 infores:orphanet PMID:2412666|PMID:34733232|PMID:34684815 Assessed uuid:97833ffb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1203 biolink:causes Orphanet:699812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2076 infores:orphanet PMID:2412666|PMID:34733232|PMID:34684815 Assessed uuid:97833ffc-d8a7-11f1-ae73-e4fade41113c NCBIGene:6652 biolink:causes Orphanet:700508 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11184 infores:orphanet PMID:32367058|PMID:36943151 Assessed loss_of_function_variant_form uuid:97833ffd-d8a7-11f1-ae73-e4fade41113c NCBIGene:1509 biolink:causes Orphanet:700497 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2529 infores:orphanet PMID:32412666|PMID:34733232|PMID:34684815 Assessed uuid:97833ffe-d8a7-11f1-ae73-e4fade41113c NCBIGene:1509 biolink:causes Orphanet:700492 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2529 infores:orphanet PMID:32412666|PMID:34733232|PMID:34684815 Assessed uuid:97833fff-d8a7-11f1-ae73-e4fade41113c NCBIGene:1509 biolink:causes Orphanet:700487 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2529 infores:orphanet PMID:32412666|PMID:34733232|PMID:34684815 Assessed uuid:97834000-d8a7-11f1-ae73-e4fade41113c NCBIGene:2055 biolink:causes Orphanet:700484 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2079 infores:orphanet PMID:32412666|PMID:34733232|PMID:34684815 Assessed uuid:97834001-d8a7-11f1-ae73-e4fade41113c NCBIGene:54982 biolink:causes Orphanet:700477 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2077 infores:orphanet PMID:32412666|PMID:34733232|PMID:34684815 Assessed uuid:97834002-d8a7-11f1-ae73-e4fade41113c NCBIGene:54982 biolink:causes Orphanet:700472 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2077 infores:orphanet PMID:32412666|PMID:34733232|PMID:34684815 Assessed uuid:97834003-d8a7-11f1-ae73-e4fade41113c NCBIGene:6261 biolink:causes Orphanet:700188 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10483 infores:orphanet PMID:30842289 Assessed uuid:97834004-d8a7-11f1-ae73-e4fade41113c NCBIGene:1482 biolink:causes Orphanet:101351 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2488 infores:orphanet PMID:22560297 Assessed uuid:97834005-d8a7-11f1-ae73-e4fade41113c NCBIGene:3921 biolink:causes Orphanet:101351 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6502 infores:orphanet PMID:23579497 Assessed uuid:97834006-d8a7-11f1-ae73-e4fade41113c NCBIGene:11080 biolink:causes Orphanet:700170 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14886 infores:orphanet PMID:39468638 Assessed uuid:97834007-d8a7-11f1-ae73-e4fade41113c NCBIGene:23394 biolink:causes Orphanet:700160 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15766 infores:orphanet PMID:38884529 Assessed uuid:97834008-d8a7-11f1-ae73-e4fade41113c NCBIGene:23676 biolink:causes Orphanet:700163 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11122 infores:orphanet PMID:33974137 Assessed gain_of_function_variant_form uuid:97834009-d8a7-11f1-ae73-e4fade41113c NCBIGene:23435 biolink:causes Orphanet:700154 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11571 infores:orphanet PMID:38079474 Assessed uuid:9783400a-d8a7-11f1-ae73-e4fade41113c NCBIGene:54982 biolink:causes Orphanet:700467 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2077 infores:orphanet PMID:32412666|PMID:34733232|PMID:34684815 Assessed uuid:9783400b-d8a7-11f1-ae73-e4fade41113c NCBIGene:285175 biolink:causes Orphanet:700333 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26582 infores:orphanet PMID:26708751|PMID:26708753|PMID:26545877 Assessed loss_of_function_variant_form uuid:9783400c-d8a7-11f1-ae73-e4fade41113c NCBIGene:259232 biolink:causes Orphanet:700336 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19082 infores:orphanet PMID:23749988|PMID:24075186 Assessed uuid:9783400d-d8a7-11f1-ae73-e4fade41113c NCBIGene:79576 biolink:causes Orphanet:700325 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29873 infores:orphanet PMID:31587868 Assessed loss_of_function_variant_form uuid:9783400e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3551 biolink:causes Orphanet:700205 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:5960 infores:orphanet PMID:30337470 Assessed gain_of_function_variant_form uuid:9783400f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51176 biolink:causes Orphanet:708043 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6551 infores:orphanet PMID:32022899|PMID:35583550 Assessed uuid:97834010-d8a7-11f1-ae73-e4fade41113c NCBIGene:83999 biolink:causes Orphanet:708036 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17550 infores:orphanet PMID:27049303|PMID:28813618 Assessed uuid:97834011-d8a7-11f1-ae73-e4fade41113c NCBIGene:5587 biolink:causes Orphanet:708019 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9407 infores:orphanet PMID:27479907 Assessed uuid:97834012-d8a7-11f1-ae73-e4fade41113c NCBIGene:3664 biolink:causes Orphanet:708014 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6121 infores:orphanet PMID:39902929 Assessed uuid:97834013-d8a7-11f1-ae73-e4fade41113c NCBIGene:51741 biolink:causes Orphanet:708171 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12799 infores:orphanet PMID:25411445|PMID:38161429 Assessed uuid:97834014-d8a7-11f1-ae73-e4fade41113c NCBIGene:80213 biolink:causes Orphanet:708166 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24128 infores:orphanet PMID:40449487 Assessed uuid:97834015-d8a7-11f1-ae73-e4fade41113c NCBIGene:7707 biolink:causes Orphanet:708178 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12933 infores:orphanet PMID:27964749|PMID:36444493|PMID:37580113 Assessed uuid:97834016-d8a7-11f1-ae73-e4fade41113c NCBIGene:10049 biolink:causes Orphanet:708126 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14888 infores:orphanet PMID:31955980|PMID:35812750 Assessed uuid:97834017-d8a7-11f1-ae73-e4fade41113c NCBIGene:4703 biolink:causes Orphanet:708123 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7720 infores:orphanet PMID:40091977|PMID:30679003 Assessed uuid:97834018-d8a7-11f1-ae73-e4fade41113c NCBIGene:88 biolink:causes Orphanet:708133 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:164 infores:orphanet PMID:34386585|PMID:30900782 Assessed uuid:97834019-d8a7-11f1-ae73-e4fade41113c NCBIGene:88 biolink:causes Orphanet:708129 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:164 infores:orphanet PMID:38311799 Assessed uuid:9783401a-d8a7-11f1-ae73-e4fade41113c NCBIGene:3048 biolink:causes Orphanet:707792 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4832 infores:orphanet PMID:24483321|PMID:31985299 Assessed uuid:9783401b-d8a7-11f1-ae73-e4fade41113c NCBIGene:63895 biolink:causes Orphanet:707937 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26270 infores:orphanet PMID:27843126|PMID:33995476|PMID:30800044 Assessed uuid:9783401c-d8a7-11f1-ae73-e4fade41113c NCBIGene:7273 biolink:causes Orphanet:707983 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12403 infores:orphanet PMID:27796757 Assessed uuid:9783401d-d8a7-11f1-ae73-e4fade41113c NCBIGene:3040 biolink:causes Orphanet:707789 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4824 infores:orphanet PMID:25212678 Assessed uuid:9783401e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3039 biolink:causes Orphanet:707789 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4823 infores:orphanet PMID:28696843 Assessed uuid:9783401f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8943 biolink:causes Orphanet:664511 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:568 infores:orphanet PMID:36445457 Assessed uuid:97834020-d8a7-11f1-ae73-e4fade41113c NCBIGene:7054 biolink:causes Orphanet:101150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11782 infores:orphanet Assessed uuid:97834021-d8a7-11f1-ae73-e4fade41113c NCBIGene:9256 biolink:causes Orphanet:101150 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16831 infores:orphanet PMID:33539324 Assessed loss_of_function_variant_form uuid:97834022-d8a7-11f1-ae73-e4fade41113c NCBIGene:8546 biolink:causes Orphanet:664500 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:566 infores:orphanet PMID:10024875 Assessed loss_of_function_variant_form uuid:97834023-d8a7-11f1-ae73-e4fade41113c NCBIGene:87178 biolink:causes Orphanet:101111 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23166 infores:orphanet PMID:35411967 Assessed uuid:97834024-d8a7-11f1-ae73-e4fade41113c NCBIGene:1938 biolink:causes Orphanet:101112 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3214 infores:orphanet PMID:23001565|PMID:20301317 Assessed uuid:97834025-d8a7-11f1-ae73-e4fade41113c NCBIGene:10939 biolink:causes Orphanet:101109 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:315 infores:orphanet Assessed uuid:97834026-d8a7-11f1-ae73-e4fade41113c NCBIGene:3778 biolink:causes Orphanet:664438 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6284 infores:orphanet PMID:311521168 Assessed loss_of_function_variant_form uuid:97834027-d8a7-11f1-ae73-e4fade41113c NCBIGene:5173 biolink:causes Orphanet:101108 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8820 infores:orphanet Assessed uuid:97834028-d8a7-11f1-ae73-e4fade41113c NCBIGene:57282 biolink:causes Orphanet:664430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13811 infores:orphanet PMID:37459438 Assessed uuid:97834029-d8a7-11f1-ae73-e4fade41113c NCBIGene:4208 biolink:causes Orphanet:664416 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6996 infores:orphanet PMID:23389741 Assessed loss_of_function_variant_form uuid:9783402a-d8a7-11f1-ae73-e4fade41113c NCBIGene:137814 biolink:contributes_to Orphanet:665058 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:32940 infores:orphanet PMID:15649947|PMID:25195019 Assessed uuid:9783402b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6899 biolink:causes Orphanet:665058 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11592 infores:orphanet PMID:14585638|PMID:29509905 Assessed uuid:9783402c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2627 biolink:causes Orphanet:665058 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4174 infores:orphanet PMID:19666519|PMID:38351237 Assessed uuid:9783402d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6899 biolink:causes Orphanet:665044 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11592 infores:orphanet PMID:14585638|PMID:29509905 Assessed uuid:9783402e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2627 biolink:causes Orphanet:665044 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4174 infores:orphanet PMID:19666519|PMID:38351237 Assessed uuid:9783402f-d8a7-11f1-ae73-e4fade41113c NCBIGene:55627 biolink:causes Orphanet:664923 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:32949 infores:orphanet PMID:31495489 Assessed loss_of_function_variant_form uuid:97834030-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:causes Orphanet:664729 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25941 infores:orphanet PMID:32518946 Assessed loss_of_function_variant_form uuid:97834031-d8a7-11f1-ae73-e4fade41113c NCBIGene:3604 biolink:causes Orphanet:664726 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11924 infores:orphanet PMID:30872117 Assessed uuid:97834032-d8a7-11f1-ae73-e4fade41113c NCBIGene:5580 biolink:causes Orphanet:664711 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9399 infores:orphanet PMID:23430113 Assessed loss_of_function_variant_form uuid:97834033-d8a7-11f1-ae73-e4fade41113c NCBIGene:10125 biolink:causes Orphanet:664699 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9878 infores:orphanet PMID:28822832|PMID:29282224 Assessed loss_of_function_variant_form uuid:97834034-d8a7-11f1-ae73-e4fade41113c NCBIGene:4747 biolink:causes Orphanet:101085 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7739 infores:orphanet PMID:20301384 Assessed uuid:97834035-d8a7-11f1-ae73-e4fade41113c NCBIGene:959 biolink:causes Orphanet:101088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11935 infores:orphanet Assessed uuid:97834036-d8a7-11f1-ae73-e4fade41113c NCBIGene:5376 biolink:causes Orphanet:101081 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9118 infores:orphanet PMID:20301384 Assessed uuid:97834037-d8a7-11f1-ae73-e4fade41113c NCBIGene:4359 biolink:causes Orphanet:101082 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7225 infores:orphanet PMID:20301384 Assessed uuid:97834038-d8a7-11f1-ae73-e4fade41113c NCBIGene:9516 biolink:causes Orphanet:101083 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16841 infores:orphanet PMID:20301384 Assessed uuid:97834039-d8a7-11f1-ae73-e4fade41113c NCBIGene:1959 biolink:causes Orphanet:101084 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3239 infores:orphanet PMID:20301384 Assessed uuid:9783403a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9131 biolink:causes Orphanet:101078 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8768 infores:orphanet PMID:23217327 Assessed uuid:9783403b-d8a7-11f1-ae73-e4fade41113c NCBIGene:23013 biolink:causes Orphanet:662234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17575 infores:orphanet PMID:33596411 Assessed uuid:9783403c-d8a7-11f1-ae73-e4fade41113c NCBIGene:547 biolink:causes Orphanet:662367 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:888 infores:orphanet PMID:34121983 Assessed uuid:9783403d-d8a7-11f1-ae73-e4fade41113c NCBIGene:153642 biolink:causes Orphanet:662216 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25239 infores:orphanet PMID:34916232 Assessed uuid:9783403e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3187 biolink:causes Orphanet:662207 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5041 infores:orphanet PMID:29938792|PMID:32335897 Assessed uuid:9783403f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2705 biolink:causes Orphanet:101075 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4283 infores:orphanet PMID:20301548 Assessed uuid:97834040-d8a7-11f1-ae73-e4fade41113c NCBIGene:3912 biolink:causes Orphanet:662229 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6486 infores:orphanet PMID:37063705 Assessed uuid:97834041-d8a7-11f1-ae73-e4fade41113c NCBIGene:54332 biolink:gene_associated_with_condition Orphanet:101102 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:15968 infores:orphanet PMID:20301462 Not yet assessed uuid:97834042-d8a7-11f1-ae73-e4fade41113c NCBIGene:4256 biolink:causes Orphanet:664377 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7060 infores:orphanet PMID:37923733 Assessed uuid:97834043-d8a7-11f1-ae73-e4fade41113c NCBIGene:11284 biolink:causes Orphanet:101101 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9154 infores:orphanet PMID:30039206 Assessed uuid:97834044-d8a7-11f1-ae73-e4fade41113c NCBIGene:23118 biolink:causes Orphanet:664401 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17075 infores:orphanet PMID:31959127 Assessed loss_of_function_variant_form uuid:97834045-d8a7-11f1-ae73-e4fade41113c NCBIGene:23118 biolink:gene_associated_with_condition Orphanet:664404 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:17075 infores:orphanet PMID:20493459 Assessed uuid:97834046-d8a7-11f1-ae73-e4fade41113c NCBIGene:54332 biolink:causes Orphanet:101097 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15968 infores:orphanet PMID:20301462 Assessed uuid:97834047-d8a7-11f1-ae73-e4fade41113c NCBIGene:10093 biolink:causes Orphanet:662762 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:707 infores:orphanet PMID:35047857 Assessed uuid:97834048-d8a7-11f1-ae73-e4fade41113c NCBIGene:958 biolink:causes Orphanet:101090 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11919 infores:orphanet PMID:11675497 Assessed uuid:97834049-d8a7-11f1-ae73-e4fade41113c NCBIGene:57379 biolink:causes Orphanet:101089 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13203 infores:orphanet PMID:11007475 Assessed uuid:9783404a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7374 biolink:causes Orphanet:101092 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12572 infores:orphanet PMID:12958596|PMID:15967827 Assessed uuid:9783404b-d8a7-11f1-ae73-e4fade41113c NCBIGene:64919 biolink:causes Orphanet:662829 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13222 infores:orphanet PMID:29985992 Assessed uuid:9783404c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2776 biolink:causes Orphanet:675359 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4390 infores:orphanet PMID:28084343 Assessed uuid:9783404d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:675359 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4379 infores:orphanet PMID:31189994 Assessed uuid:9783404e-d8a7-11f1-ae73-e4fade41113c NCBIGene:9630 biolink:causes Orphanet:675359 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4382 infores:orphanet PMID:29574926 Assessed uuid:9783404f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2259 biolink:causes Orphanet:675216 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3671 infores:orphanet PMID:36516086 Assessed uuid:97834050-d8a7-11f1-ae73-e4fade41113c NCBIGene:2767 biolink:causes Orphanet:101049 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4379 infores:orphanet PMID:23802516 Assessed loss_of_function_variant_form uuid:97834051-d8a7-11f1-ae73-e4fade41113c NCBIGene:1175 biolink:causes Orphanet:101050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:565 infores:orphanet PMID:23222959 Assessed uuid:97834052-d8a7-11f1-ae73-e4fade41113c NCBIGene:2243 biolink:causes Orphanet:101041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3661 infores:orphanet PMID:18676163|PMID:17295221 Assessed uuid:97834053-d8a7-11f1-ae73-e4fade41113c NCBIGene:2244 biolink:causes Orphanet:101041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3662 infores:orphanet PMID:17295221 Assessed uuid:97834054-d8a7-11f1-ae73-e4fade41113c NCBIGene:2266 biolink:causes Orphanet:101041 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3694 infores:orphanet PMID:18676163|PMID:17295221 Assessed uuid:97834055-d8a7-11f1-ae73-e4fade41113c NCBIGene:5649 biolink:causes Orphanet:101046 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9957 infores:orphanet PMID:26046367 Assessed uuid:97834056-d8a7-11f1-ae73-e4fade41113c NCBIGene:9211 biolink:causes Orphanet:101046 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6572 infores:orphanet PMID:12601709|PMID:20301709 Assessed loss_of_function_variant_form uuid:97834057-d8a7-11f1-ae73-e4fade41113c NCBIGene:64780 biolink:causes Orphanet:101046 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20619 infores:orphanet PMID:29394500 Assessed uuid:97834058-d8a7-11f1-ae73-e4fade41113c NCBIGene:1634 biolink:causes Orphanet:101068 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2705 infores:orphanet PMID:15671264|PMID:20301741 Assessed uuid:97834059-d8a7-11f1-ae73-e4fade41113c NCBIGene:8404 biolink:causes Orphanet:101068 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11220 infores:orphanet PMID:39169229 Assessed uuid:9783405a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6729 biolink:causes Orphanet:675767 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11301 infores:orphanet PMID:29914977|PMID:30237254 Assessed loss_of_function_variant_form uuid:9783405b-d8a7-11f1-ae73-e4fade41113c NCBIGene:9289 biolink:causes Orphanet:101070 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4512 infores:orphanet PMID:21349848 Assessed uuid:9783405c-d8a7-11f1-ae73-e4fade41113c NCBIGene:4000 biolink:gene_associated_with_condition Orphanet:675396 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:6636 infores:orphanet PMID:33034932 Assessed uuid:9783405d-d8a7-11f1-ae73-e4fade41113c NCBIGene:7431 biolink:gene_associated_with_condition Orphanet:675396 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12692 infores:orphanet PMID:26135557 Assessed uuid:9783405e-d8a7-11f1-ae73-e4fade41113c NCBIGene:2353 biolink:gene_associated_with_condition Orphanet:675396 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3796 infores:orphanet PMID:33034932 Assessed uuid:9783405f-d8a7-11f1-ae73-e4fade41113c NCBIGene:678 biolink:gene_associated_with_condition Orphanet:675396 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1108 infores:orphanet PMID:25043949 Assessed uuid:97834060-d8a7-11f1-ae73-e4fade41113c NCBIGene:2354 biolink:gene_associated_with_condition Orphanet:675396 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3797 infores:orphanet PMID:25043949 Assessed uuid:97834061-d8a7-11f1-ae73-e4fade41113c NCBIGene:51311 biolink:causes Orphanet:675628 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:15632 infores:orphanet PMID:33512449 Assessed gain_of_function_variant_form uuid:97834062-d8a7-11f1-ae73-e4fade41113c NCBIGene:10370 biolink:gene_associated_with_condition Orphanet:101063 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1987 infores:orphanet Not yet assessed uuid:97834063-d8a7-11f1-ae73-e4fade41113c NCBIGene:4838 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7865 infores:orphanet PMID:19064609 Assessed uuid:97834064-d8a7-11f1-ae73-e4fade41113c NCBIGene:220136 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26530 infores:orphanet PMID:22577226 Assessed uuid:97834065-d8a7-11f1-ae73-e4fade41113c NCBIGene:146845 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16053 infores:orphanet PMID:25469542 Assessed uuid:97834066-d8a7-11f1-ae73-e4fade41113c NCBIGene:118856 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14357 infores:orphanet PMID:26429889|PMID:26437028 Assessed loss_of_function_variant_form uuid:97834067-d8a7-11f1-ae73-e4fade41113c NCBIGene:29922 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20461 infores:orphanet PMID:27060491 Assessed uuid:97834068-d8a7-11f1-ae73-e4fade41113c NCBIGene:124401 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29422 infores:orphanet PMID:27417436 Assessed uuid:97834069-d8a7-11f1-ae73-e4fade41113c NCBIGene:168507 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18053 infores:orphanet PMID:27616478 Assessed uuid:9783406a-d8a7-11f1-ae73-e4fade41113c NCBIGene:1770 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:2953 infores:orphanet PMID:30471718 Assessed loss_of_function_variant_form uuid:9783406b-d8a7-11f1-ae73-e4fade41113c NCBIGene:100128908 biolink:causes Orphanet:101063 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:53647 infores:orphanet PMID:34903892 Assessed uuid:9783406c-d8a7-11f1-ae73-e4fade41113c NCBIGene:672 biolink:contributes_to Orphanet:667662 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1100 infores:orphanet PMID:40512039 Assessed uuid:9783406d-d8a7-11f1-ae73-e4fade41113c NCBIGene:675 biolink:contributes_to Orphanet:667662 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:1101 infores:orphanet PMID:40512039 Assessed uuid:9783406e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7157 biolink:contributes_to Orphanet:667662 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:11998 infores:orphanet PMID:30546832 Assessed uuid:9783406f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3717 biolink:gene_associated_with_condition Orphanet:667662 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:6192 infores:orphanet PMID:33660353 Assessed uuid:97834070-d8a7-11f1-ae73-e4fade41113c NCBIGene:6774 biolink:causes Orphanet:667662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11364 infores:orphanet PMID:30546832 Assessed uuid:97834071-d8a7-11f1-ae73-e4fade41113c NCBIGene:6774 biolink:gene_associated_with_condition Orphanet:667662 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11364 infores:orphanet PMID:33660353 Assessed uuid:97834072-d8a7-11f1-ae73-e4fade41113c NCBIGene:3716 biolink:causes Orphanet:667662 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:6190 infores:orphanet PMID:33660353 Assessed uuid:97834073-d8a7-11f1-ae73-e4fade41113c NCBIGene:6938 biolink:causes Orphanet:672979 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11623 infores:orphanet PMID:23354436 Assessed uuid:97834074-d8a7-11f1-ae73-e4fade41113c NCBIGene:7545 biolink:causes Orphanet:672985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12872 infores:orphanet PMID:30391508 Assessed uuid:97834075-d8a7-11f1-ae73-e4fade41113c NCBIGene:57822 biolink:contributes_to Orphanet:101023 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25839 infores:orphanet PMID:27018472|PMID:27018475 Assessed uuid:97834076-d8a7-11f1-ae73-e4fade41113c NCBIGene:7314 biolink:gene_associated_with_condition Orphanet:101023 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12463 infores:orphanet PMID:17468296 Not yet assessed uuid:97834077-d8a7-11f1-ae73-e4fade41113c NCBIGene:547 biolink:causes Orphanet:101010 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:888 infores:orphanet PMID:22258533|PMID:26410750 Assessed uuid:97834078-d8a7-11f1-ae73-e4fade41113c NCBIGene:65055 biolink:causes Orphanet:101011 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25786 infores:orphanet PMID:22703882 Assessed uuid:97834079-d8a7-11f1-ae73-e4fade41113c NCBIGene:60 biolink:causes Orphanet:674653 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:132 infores:orphanet PMID:30315159 Assessed uuid:9783407a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7128 biolink:causes Orphanet:674762 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11896 infores:orphanet PMID:30810840|PMID:26642243 Assessed loss_of_function_variant_form uuid:9783407b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6888 biolink:causes Orphanet:101028 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11559 infores:orphanet PMID:23315216 Assessed uuid:9783407c-d8a7-11f1-ae73-e4fade41113c NCBIGene:5054 biolink:gene_associated_with_condition Orphanet:673556 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8583 infores:orphanet PMID:36803395 Assessed uuid:9783407d-d8a7-11f1-ae73-e4fade41113c NCBIGene:60 biolink:gene_associated_with_condition Orphanet:673556 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:132 infores:orphanet PMID:36803395 Assessed uuid:9783407e-d8a7-11f1-ae73-e4fade41113c NCBIGene:25937 biolink:gene_associated_with_condition Orphanet:673556 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:24042 infores:orphanet PMID:36803395 Assessed uuid:9783407f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2354 biolink:gene_associated_with_condition Orphanet:673556 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:3797 infores:orphanet PMID:36803395 Assessed uuid:97834080-d8a7-11f1-ae73-e4fade41113c NCBIGene:51062 biolink:causes Orphanet:100984 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11231 infores:orphanet PMID:11685207 Assessed uuid:97834081-d8a7-11f1-ae73-e4fade41113c NCBIGene:54084 biolink:causes Orphanet:685067 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1268 infores:orphanet PMID:27736875 Assessed uuid:97834082-d8a7-11f1-ae73-e4fade41113c NCBIGene:6439 biolink:contributes_to Orphanet:685082 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10801 infores:orphanet PMID:11063734 Assessed uuid:97834083-d8a7-11f1-ae73-e4fade41113c NCBIGene:6440 biolink:contributes_to Orphanet:685082 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10802 infores:orphanet PMID:29805340 Assessed uuid:97834084-d8a7-11f1-ae73-e4fade41113c NCBIGene:21 biolink:gene_associated_with_condition Orphanet:685082 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:33 infores:orphanet PMID:27516224 Not yet assessed uuid:97834085-d8a7-11f1-ae73-e4fade41113c NCBIGene:6899 biolink:causes Orphanet:685017 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11592 infores:orphanet PMID:17273972 Assessed uuid:97834086-d8a7-11f1-ae73-e4fade41113c NCBIGene:3798 biolink:causes Orphanet:100991 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6323 infores:orphanet PMID:21623771 Assessed uuid:97834087-d8a7-11f1-ae73-e4fade41113c NCBIGene:9897 biolink:causes Orphanet:100989 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28984 infores:orphanet PMID:17160902 Assessed uuid:97834088-d8a7-11f1-ae73-e4fade41113c NCBIGene:727897 biolink:contributes_to Orphanet:686465 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:7516 infores:orphanet PMID:28648751 Assessed uuid:97834089-d8a7-11f1-ae73-e4fade41113c NCBIGene:123606 biolink:causes Orphanet:100988 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17043 infores:orphanet PMID:14508710|PMID:15643603 Assessed uuid:9783408a-d8a7-11f1-ae73-e4fade41113c NCBIGene:9420 biolink:causes Orphanet:100986 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2652 infores:orphanet Assessed uuid:9783408b-d8a7-11f1-ae73-e4fade41113c NCBIGene:6683 biolink:causes Orphanet:100985 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11233 infores:orphanet PMID:17895902 Assessed uuid:9783408c-d8a7-11f1-ae73-e4fade41113c NCBIGene:10771 biolink:gene_associated_with_condition Orphanet:687424 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:16966 infores:orphanet PMID:25281490|PMID:22847950 Assessed uuid:9783408d-d8a7-11f1-ae73-e4fade41113c NCBIGene:23111 biolink:causes Orphanet:101000 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18514 infores:orphanet PMID:12134148|PMID:20437587 Assessed uuid:9783408e-d8a7-11f1-ae73-e4fade41113c NCBIGene:11145 biolink:causes Orphanet:686999 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:17825 infores:orphanet PMID:37919452 Assessed loss_of_function_variant_form uuid:9783408f-d8a7-11f1-ae73-e4fade41113c NCBIGene:26580 biolink:causes Orphanet:100998 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15832 infores:orphanet PMID:14981520 Assessed uuid:97834090-d8a7-11f1-ae73-e4fade41113c NCBIGene:8567 biolink:causes Orphanet:686495 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6766 infores:orphanet PMID:32761064 Assessed uuid:97834091-d8a7-11f1-ae73-e4fade41113c NCBIGene:23503 biolink:causes Orphanet:100996 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20761 infores:orphanet PMID:18394578|PMID:19805727 Assessed uuid:97834092-d8a7-11f1-ae73-e4fade41113c NCBIGene:26834 biolink:causes Orphanet:686488 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10193 infores:orphanet PMID:38821540|PMID:38645094 Assessed uuid:97834093-d8a7-11f1-ae73-e4fade41113c NCBIGene:6253 biolink:causes Orphanet:100993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10468 infores:orphanet PMID:22232211 Assessed uuid:97834094-d8a7-11f1-ae73-e4fade41113c NCBIGene:51271 biolink:causes Orphanet:100993 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12461 infores:orphanet PMID:32934340 Assessed uuid:97834095-d8a7-11f1-ae73-e4fade41113c NCBIGene:3329 biolink:causes Orphanet:100994 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5261 infores:orphanet PMID:1189812 Assessed uuid:97834096-d8a7-11f1-ae73-e4fade41113c NCBIGene:2186 biolink:causes Orphanet:686482 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3581 infores:orphanet PMID:33522091 Assessed uuid:97834097-d8a7-11f1-ae73-e4fade41113c NCBIGene:5880 biolink:causes Orphanet:688543 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9802 infores:orphanet PMID:31919089 Assessed gain_of_function_variant_form uuid:97834098-d8a7-11f1-ae73-e4fade41113c NCBIGene:80821 biolink:causes Orphanet:101008 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19714 infores:orphanet PMID:23176821 Assessed uuid:97834099-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:687741 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:22996177 Assessed uuid:9783409a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2583 biolink:causes Orphanet:101006 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4117 infores:orphanet PMID:23746551 Assessed uuid:9783409b-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:687738 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:22996177 Assessed uuid:9783409c-d8a7-11f1-ae73-e4fade41113c NCBIGene:25778 biolink:causes Orphanet:101003 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29043 infores:orphanet PMID:28157540 Assessed uuid:9783409d-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:687733 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:22996177 Assessed uuid:9783409e-d8a7-11f1-ae73-e4fade41113c NCBIGene:673 biolink:causes Orphanet:687730 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1097 infores:orphanet PMID:22996177 Assessed uuid:9783409f-d8a7-11f1-ae73-e4fade41113c NCBIGene:51324 biolink:causes Orphanet:101001 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20373 infores:orphanet Assessed uuid:978340a0-d8a7-11f1-ae73-e4fade41113c NCBIGene:64145 biolink:causes Orphanet:675775 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20759 infores:orphanet PMID:29784638 Assessed uuid:978340a1-d8a7-11f1-ae73-e4fade41113c NCBIGene:64145 biolink:causes Orphanet:675782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20759 infores:orphanet PMID:35652444 Assessed loss_of_function_variant_form uuid:978340a2-d8a7-11f1-ae73-e4fade41113c NCBIGene:8456 biolink:causes Orphanet:676039 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12765 infores:orphanet PMID:31447097 Assessed uuid:978340a3-d8a7-11f1-ae73-e4fade41113c NCBIGene:2000 biolink:causes Orphanet:676125 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:3319 infores:orphanet PMID:34326534 Assessed loss_of_function_variant_form uuid:978340a4-d8a7-11f1-ae73-e4fade41113c NCBIGene:6392 biolink:gene_associated_with_condition Orphanet:100093 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10683 infores:orphanet PMID:12007193 Not yet assessed uuid:978340a5-d8a7-11f1-ae73-e4fade41113c NCBIGene:210 biolink:causes Orphanet:100924 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:395 infores:orphanet PMID:2063868|PMID:16343966 Assessed uuid:978340a6-d8a7-11f1-ae73-e4fade41113c NCBIGene:200424 biolink:causes Orphanet:684216 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28313 infores:orphanet PMID:31928709|PMID:34750377 Assessed uuid:978340a7-d8a7-11f1-ae73-e4fade41113c NCBIGene:22884 biolink:causes Orphanet:684305 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:31406 infores:orphanet PMID:31327508|PMID:31327510 Assessed loss_of_function_variant_form uuid:978340a8-d8a7-11f1-ae73-e4fade41113c NCBIGene:2334 biolink:causes Orphanet:100973 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3776 infores:orphanet PMID:21739600 Assessed uuid:978340a9-d8a7-11f1-ae73-e4fade41113c NCBIGene:84548 biolink:causes Orphanet:100974 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17125 infores:orphanet PMID:7874164 Assessed uuid:978340aa-d8a7-11f1-ae73-e4fade41113c NCBIGene:129804 biolink:gene_associated_with_condition Orphanet:684742 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:26740 infores:orphanet PMID:24694933 Assessed uuid:978340ab-d8a7-11f1-ae73-e4fade41113c NCBIGene:84910 biolink:gene_associated_with_condition Orphanet:684742 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:25913 infores:orphanet PMID:24694933 Assessed uuid:978340ac-d8a7-11f1-ae73-e4fade41113c NCBIGene:7051 biolink:causes Orphanet:100976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11777 infores:orphanet PMID:16968736|PMID:20301593 Assessed uuid:978340ad-d8a7-11f1-ae73-e4fade41113c NCBIGene:6304 biolink:causes Orphanet:684232 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10541 infores:orphanet PMID:33513338 Assessed uuid:978340ae-d8a7-11f1-ae73-e4fade41113c NCBIGene:51111 biolink:causes Orphanet:684226 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24283 infores:orphanet PMID:28191889|PMID:38571636|PMID:36897941 Assessed uuid:978340af-d8a7-11f1-ae73-e4fade41113c NCBIGene:2692 biolink:causes Orphanet:684247 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4266 infores:orphanet PMID:36960394 Assessed uuid:978340b0-d8a7-11f1-ae73-e4fade41113c NCBIGene:90522 biolink:causes Orphanet:684240 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:30511 infores:orphanet PMID:32006098 Assessed loss_of_function_variant_form uuid:978340b1-d8a7-11f1-ae73-e4fade41113c NCBIGene:2161 biolink:causes Orphanet:100054 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:3530 infores:orphanet PMID:20384613 Assessed gain_of_function_variant_form uuid:978340b2-d8a7-11f1-ae73-e4fade41113c NCBIGene:710 biolink:causes Orphanet:100051 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1228 infores:orphanet PMID:24456027 Assessed uuid:978340b3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7512 biolink:gene_associated_with_condition Orphanet:100057 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12823 infores:orphanet Not yet assessed uuid:978340b4-d8a7-11f1-ae73-e4fade41113c NCBIGene:5575 biolink:causes Orphanet:692173 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9390 infores:orphanet PMID:33833410 Assessed uuid:978340b5-d8a7-11f1-ae73-e4fade41113c NCBIGene:283489 biolink:causes Orphanet:692193 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20311 infores:orphanet PMID:37628598|PMID:35271727 Assessed uuid:978340b6-d8a7-11f1-ae73-e4fade41113c NCBIGene:5880 biolink:causes Orphanet:692812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9802 infores:orphanet PMID:38410820 Assessed uuid:978340b7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4330 biolink:causes Orphanet:693549 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:7180 infores:orphanet PMID:31834374|PMID:31839203|PMID:37575653 Assessed gain_of_function_variant_form uuid:978340b8-d8a7-11f1-ae73-e4fade41113c NCBIGene:537 biolink:causes Orphanet:692790 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:868 infores:orphanet PMID:35732497|PMID:27231034 Assessed uuid:978340b9-d8a7-11f1-ae73-e4fade41113c NCBIGene:5663 biolink:causes Orphanet:100069 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9508 infores:orphanet PMID:11094121 Assessed uuid:978340ba-d8a7-11f1-ae73-e4fade41113c NCBIGene:25978 biolink:contributes_to Orphanet:100069 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:24537 infores:orphanet PMID:23597030 Assessed uuid:978340bb-d8a7-11f1-ae73-e4fade41113c NCBIGene:54209 biolink:contributes_to Orphanet:100069 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17761 infores:orphanet PMID:24139279|PMID:25042114 Assessed uuid:978340bc-d8a7-11f1-ae73-e4fade41113c NCBIGene:4137 biolink:contributes_to Orphanet:100069 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6893 infores:orphanet PMID:23597030 Assessed uuid:978340bd-d8a7-11f1-ae73-e4fade41113c NCBIGene:2896 biolink:contributes_to Orphanet:100069 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4601 infores:orphanet PMID:23597030 Assessed uuid:978340be-d8a7-11f1-ae73-e4fade41113c NCBIGene:203228 biolink:gene_associated_with_condition Orphanet:100069 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:28337 infores:orphanet PMID:23597030 Not yet assessed uuid:978340bf-d8a7-11f1-ae73-e4fade41113c NCBIGene:54664 biolink:contributes_to Orphanet:100069 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:22407 infores:orphanet PMID:27543298|PMID:21614538 Assessed uuid:978340c0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5663 biolink:causes Orphanet:100070 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9508 infores:orphanet PMID:15122701 Assessed uuid:978340c1-d8a7-11f1-ae73-e4fade41113c NCBIGene:25978 biolink:contributes_to Orphanet:100070 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:24537 infores:orphanet PMID:23597030 Assessed uuid:978340c2-d8a7-11f1-ae73-e4fade41113c NCBIGene:54209 biolink:contributes_to Orphanet:100070 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17761 infores:orphanet PMID:25042114 Assessed uuid:978340c3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7415 biolink:gene_associated_with_condition Orphanet:100070 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12666 infores:orphanet PMID:23597030 Not yet assessed uuid:978340c4-d8a7-11f1-ae73-e4fade41113c NCBIGene:4137 biolink:contributes_to Orphanet:100070 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:6893 infores:orphanet PMID:23597030 Assessed uuid:978340c5-d8a7-11f1-ae73-e4fade41113c NCBIGene:2896 biolink:contributes_to Orphanet:100070 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:4601 infores:orphanet PMID:23597030 Assessed uuid:978340c6-d8a7-11f1-ae73-e4fade41113c NCBIGene:203228 biolink:gene_associated_with_condition Orphanet:100070 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:28337 infores:orphanet PMID:23597030 Not yet assessed uuid:978340c7-d8a7-11f1-ae73-e4fade41113c NCBIGene:54664 biolink:contributes_to Orphanet:100070 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:22407 infores:orphanet PMID:27543298|PMID:21614538 Assessed uuid:978340c8-d8a7-11f1-ae73-e4fade41113c NCBIGene:7922 biolink:causes Orphanet:693627 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4927 infores:orphanet PMID:30718914 Assessed uuid:978340c9-d8a7-11f1-ae73-e4fade41113c NCBIGene:5295 biolink:causes Orphanet:693681 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:8979 infores:orphanet PMID:25133428 Assessed gain_of_function_variant_form uuid:978340ca-d8a7-11f1-ae73-e4fade41113c NCBIGene:546 biolink:gene_associated_with_condition Orphanet:100075 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:886 infores:orphanet PMID:26026117 Not yet assessed uuid:978340cb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5293 biolink:causes Orphanet:693661 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:8977 infores:orphanet PMID:24136356 Assessed gain_of_function_variant_form uuid:978340cc-d8a7-11f1-ae73-e4fade41113c NCBIGene:96459 biolink:causes Orphanet:693647 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29418 infores:orphanet PMID:32905580 Assessed loss_of_function_variant_form uuid:978340cd-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:causes Orphanet:100020 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:25941 infores:orphanet PMID:19483684|PMID:19557078 Assessed uuid:978340ce-d8a7-11f1-ae73-e4fade41113c NCBIGene:9949 biolink:causes Orphanet:688581 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:467 infores:orphanet PMID:27811305|PMID:28089922 Assessed uuid:978340cf-d8a7-11f1-ae73-e4fade41113c NCBIGene:54790 biolink:causes Orphanet:100019 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:25941 infores:orphanet PMID:19483684|PMID:19557078 Assessed uuid:978340d0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5971 biolink:causes Orphanet:688594 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:9956 infores:orphanet PMID:39231201 Assessed loss_of_function_variant_form uuid:978340d1-d8a7-11f1-ae73-e4fade41113c NCBIGene:7703 biolink:causes Orphanet:688642 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12929 infores:orphanet PMID:30343942 Assessed uuid:97a2cdde-d8a7-11f1-ae73-e4fade41113c NCBIGene:203859 biolink:causes Orphanet:689021 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:27337 infores:orphanet PMID:28187523 Assessed uuid:97a2cddf-d8a7-11f1-ae73-e4fade41113c NCBIGene:286077 biolink:causes Orphanet:100032 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24797 infores:orphanet PMID:18252228 Assessed uuid:97a2cde0-d8a7-11f1-ae73-e4fade41113c NCBIGene:123041 biolink:causes Orphanet:100032 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10978 infores:orphanet PMID:23375655 Assessed uuid:97a2cde1-d8a7-11f1-ae73-e4fade41113c NCBIGene:3694 biolink:causes Orphanet:100032 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6161 infores:orphanet PMID:24319098 Assessed uuid:97a2cde2-d8a7-11f1-ae73-e4fade41113c NCBIGene:401138 biolink:causes Orphanet:100032 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33188 infores:orphanet PMID:27412008 Assessed uuid:97a2cde3-d8a7-11f1-ae73-e4fade41113c NCBIGene:84957 biolink:causes Orphanet:100032 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:13764 infores:orphanet PMID:30506946 Assessed loss_of_function_variant_form uuid:97a2cde4-d8a7-11f1-ae73-e4fade41113c NCBIGene:10117 biolink:causes Orphanet:100031 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3344 infores:orphanet PMID:11978766|PMID:14684688 Assessed uuid:97a2cde5-d8a7-11f1-ae73-e4fade41113c NCBIGene:3914 biolink:causes Orphanet:100031 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6490 infores:orphanet PMID:23632796 Assessed uuid:97a2cde6-d8a7-11f1-ae73-e4fade41113c NCBIGene:3694 biolink:causes Orphanet:100031 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6161 infores:orphanet PMID:24305999 Assessed loss_of_function_variant_form uuid:97a2cde7-d8a7-11f1-ae73-e4fade41113c NCBIGene:258 biolink:causes Orphanet:100031 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:452 infores:orphanet PMID:24858907 Assessed uuid:97a2cde8-d8a7-11f1-ae73-e4fade41113c NCBIGene:93650 biolink:causes Orphanet:100031 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14376 infores:orphanet PMID:27843125 Assessed loss_of_function_variant_form uuid:97a2cde9-d8a7-11f1-ae73-e4fade41113c NCBIGene:80320 biolink:causes Orphanet:100031 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14530 infores:orphanet PMID:32167558|PMID:33652941 Assessed uuid:97a2cdea-d8a7-11f1-ae73-e4fade41113c NCBIGene:1747 biolink:causes Orphanet:100034 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2916 infores:orphanet PMID:15666299 Assessed uuid:97a2cdeb-d8a7-11f1-ae73-e4fade41113c NCBIGene:265 biolink:causes Orphanet:100033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:461 infores:orphanet PMID:23251683 Assessed uuid:97a2cdec-d8a7-11f1-ae73-e4fade41113c NCBIGene:9622 biolink:causes Orphanet:100033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6365 infores:orphanet PMID:21597265 Assessed uuid:97a2cded-d8a7-11f1-ae73-e4fade41113c NCBIGene:9313 biolink:causes Orphanet:100033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7167 infores:orphanet PMID:15744043 Assessed uuid:97a2cdee-d8a7-11f1-ae73-e4fade41113c NCBIGene:256764 biolink:causes Orphanet:100033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26790 infores:orphanet PMID:19853237 Assessed uuid:97a2cdef-d8a7-11f1-ae73-e4fade41113c NCBIGene:152816 biolink:causes Orphanet:100033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:26300 infores:orphanet PMID:22901946 Assessed loss_of_function_variant_form uuid:97a2cdf0-d8a7-11f1-ae73-e4fade41113c NCBIGene:123041 biolink:causes Orphanet:100033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10978 infores:orphanet PMID:24621671 Assessed uuid:97a2cdf1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8111 biolink:causes Orphanet:100033 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:4519 infores:orphanet PMID:27693231 Assessed loss_of_function_variant_form uuid:97a2cdf2-d8a7-11f1-ae73-e4fade41113c NCBIGene:64135 biolink:causes Orphanet:689231 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18873 infores:orphanet PMID:31427910 Assessed uuid:97a2cdf3-d8a7-11f1-ae73-e4fade41113c NCBIGene:79621 biolink:causes Orphanet:689234 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25671 infores:orphanet PMID:38229641 Assessed uuid:97a2cdf4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1460 biolink:causes Orphanet:689397 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2460 infores:orphanet PMID:34740143 Assessed uuid:97a2cdf5-d8a7-11f1-ae73-e4fade41113c NCBIGene:55252 biolink:causes Orphanet:689408 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23805 infores:orphanet PMID:27693232 Assessed uuid:97a2cdf6-d8a7-11f1-ae73-e4fade41113c NCBIGene:1499 biolink:causes Orphanet:689430 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:2514 infores:orphanet PMID:35840721 Assessed uuid:97a2cdf7-d8a7-11f1-ae73-e4fade41113c NCBIGene:1785 biolink:causes Orphanet:100044 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2974 infores:orphanet PMID:15731758|PMID:20614582 Assessed uuid:97a2cdf8-d8a7-11f1-ae73-e4fade41113c NCBIGene:5915 biolink:causes Orphanet:689829 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9865 infores:orphanet PMID:37092537 Assessed uuid:97a2cdf9-d8a7-11f1-ae73-e4fade41113c NCBIGene:8565 biolink:causes Orphanet:100045 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12840 infores:orphanet PMID:16429158 Assessed uuid:97a2cdfa-d8a7-11f1-ae73-e4fade41113c NCBIGene:54916 biolink:causes Orphanet:689822 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20185 infores:orphanet PMID:37186866|PMID:34612517 Assessed loss_of_function_variant_form uuid:97a2cdfb-d8a7-11f1-ae73-e4fade41113c NCBIGene:4359 biolink:causes Orphanet:100046 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7225 infores:orphanet PMID:10406984 Assessed uuid:97a2cdfc-d8a7-11f1-ae73-e4fade41113c NCBIGene:710 biolink:causes Orphanet:100050 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1228 infores:orphanet PMID:24456027 Assessed uuid:97a2cdfd-d8a7-11f1-ae73-e4fade41113c NCBIGene:10651 biolink:causes Orphanet:647667 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7506 infores:orphanet PMID:36269149 Assessed uuid:97a2cdfe-d8a7-11f1-ae73-e4fade41113c NCBIGene:124583 biolink:causes Orphanet:647676 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19721 infores:orphanet PMID:28742282 Assessed uuid:97a2cdff-d8a7-11f1-ae73-e4fade41113c NCBIGene:1291 biolink:causes Orphanet:646113 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2211 infores:orphanet PMID:21496625 Assessed uuid:97a2ce00-d8a7-11f1-ae73-e4fade41113c NCBIGene:1292 biolink:causes Orphanet:646113 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2212 infores:orphanet PMID:20301676 Assessed uuid:97a2ce01-d8a7-11f1-ae73-e4fade41113c NCBIGene:1293 biolink:causes Orphanet:646113 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2213 infores:orphanet PMID:24271325 Assessed uuid:97a2ce02-d8a7-11f1-ae73-e4fade41113c NCBIGene:8621 biolink:causes Orphanet:646278 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1733 infores:orphanet PMID:35063350 Assessed uuid:97a2ce03-d8a7-11f1-ae73-e4fade41113c NCBIGene:1471 biolink:causes Orphanet:100008 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2475 infores:orphanet PMID:2541223 Assessed uuid:97a2ce04-d8a7-11f1-ae73-e4fade41113c NCBIGene:6556 biolink:contributes_to Orphanet:645814 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:10907 infores:orphanet PMID:42163977 Assessed uuid:97a2ce05-d8a7-11f1-ae73-e4fade41113c NCBIGene:351 biolink:causes Orphanet:100006 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:620 infores:orphanet PMID:24870607 Assessed uuid:97a2ce06-d8a7-11f1-ae73-e4fade41113c NCBIGene:3767 biolink:causes Orphanet:99989 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:6257 infores:orphanet Assessed gain_of_function_variant_form uuid:97a2ce07-d8a7-11f1-ae73-e4fade41113c NCBIGene:7048 biolink:gene_associated_with_condition Orphanet:99977 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:11773 infores:orphanet PMID:17680270 Not yet assessed uuid:97a2ce08-d8a7-11f1-ae73-e4fade41113c NCBIGene:51741 biolink:contributes_to Orphanet:99977 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:12799 infores:orphanet PMID:11956080|PMID:22213016 Assessed uuid:97a2ce09-d8a7-11f1-ae73-e4fade41113c NCBIGene:9940 biolink:gene_associated_with_condition Orphanet:99977 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:2899 infores:orphanet PMID:10213508 Not yet assessed uuid:97a2ce0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6049 biolink:gene_associated_with_condition Orphanet:99977 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:10069 infores:orphanet PMID:12154016 Not yet assessed uuid:97a2ce0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:2064 biolink:gene_associated_with_condition Orphanet:99976 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Biomarker tested in HGNC:3430 infores:orphanet PMID:27468182 Assessed uuid:97a2ce0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1019 biolink:gene_associated_with_condition Orphanet:99971 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:1773 infores:orphanet Assessed uuid:97a2ce0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8091 biolink:gene_associated_with_condition Orphanet:99971 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5009 infores:orphanet Assessed uuid:97a2ce0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4193 biolink:gene_associated_with_condition Orphanet:99971 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6973 infores:orphanet Assessed uuid:97a2ce0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1019 biolink:gene_associated_with_condition Orphanet:99970 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:1773 infores:orphanet Assessed uuid:97a2ce10-d8a7-11f1-ae73-e4fade41113c NCBIGene:8091 biolink:gene_associated_with_condition Orphanet:99970 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:5009 infores:orphanet Assessed uuid:97a2ce11-d8a7-11f1-ae73-e4fade41113c NCBIGene:4193 biolink:gene_associated_with_condition Orphanet:99970 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:6973 infores:orphanet Assessed uuid:97a2ce12-d8a7-11f1-ae73-e4fade41113c NCBIGene:2521 biolink:gene_associated_with_condition Orphanet:99967 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4010 infores:orphanet Assessed uuid:97a2ce13-d8a7-11f1-ae73-e4fade41113c NCBIGene:1649 biolink:gene_associated_with_condition Orphanet:99967 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2726 infores:orphanet Assessed uuid:97a2ce14-d8a7-11f1-ae73-e4fade41113c NCBIGene:6598 biolink:causes Orphanet:99966 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:11103 infores:orphanet Assessed uuid:97a2ce15-d8a7-11f1-ae73-e4fade41113c NCBIGene:8647 biolink:causes Orphanet:99961 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:42 infores:orphanet Assessed uuid:97a2ce16-d8a7-11f1-ae73-e4fade41113c NCBIGene:5205 biolink:causes Orphanet:99960 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3706 infores:orphanet Assessed uuid:97a2ce17-d8a7-11f1-ae73-e4fade41113c NCBIGene:7874 biolink:causes Orphanet:643538 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12630 infores:orphanet PMID:30679821 Assessed uuid:97a2ce18-d8a7-11f1-ae73-e4fade41113c NCBIGene:8898 biolink:causes Orphanet:99955 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7450 infores:orphanet PMID:20301641 Assessed uuid:97a2ce19-d8a7-11f1-ae73-e4fade41113c NCBIGene:25 biolink:causes Orphanet:643503 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:76 infores:orphanet PMID:32643838 Assessed uuid:97a2ce1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:81846 biolink:causes Orphanet:99956 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2135 infores:orphanet PMID:20301641 Assessed uuid:97a2ce1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:54332 biolink:causes Orphanet:99948 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15968 infores:orphanet PMID:20301711 Assessed uuid:97a2ce1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:9927 biolink:causes Orphanet:99947 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16877 infores:orphanet PMID:20301462 Assessed uuid:97a2ce1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:10397 biolink:causes Orphanet:99950 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7679 infores:orphanet PMID:10831399|PMID:20301641 Assessed uuid:97a2ce1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:79628 biolink:causes Orphanet:99949 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29427 infores:orphanet PMID:20301514 Assessed uuid:97a2ce1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:57716 biolink:causes Orphanet:99952 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13797 infores:orphanet PMID:20301641 Assessed uuid:97a2ce20-d8a7-11f1-ae73-e4fade41113c NCBIGene:1959 biolink:causes Orphanet:99951 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3239 infores:orphanet PMID:20301641 Assessed uuid:97a2ce21-d8a7-11f1-ae73-e4fade41113c NCBIGene:121512 biolink:causes Orphanet:99954 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19125 infores:orphanet PMID:23926620|PMID:20301641 Assessed loss_of_function_variant_form uuid:97a2ce22-d8a7-11f1-ae73-e4fade41113c NCBIGene:3098 biolink:causes Orphanet:99953 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4922 infores:orphanet PMID:19536174 Assessed uuid:97a2ce23-d8a7-11f1-ae73-e4fade41113c NCBIGene:3315 biolink:causes Orphanet:99940 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5246 infores:orphanet PMID:20301462 Assessed uuid:97a2ce24-d8a7-11f1-ae73-e4fade41113c NCBIGene:4747 biolink:causes Orphanet:99939 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7739 infores:orphanet PMID:20301462 Assessed uuid:97a2ce25-d8a7-11f1-ae73-e4fade41113c NCBIGene:4359 biolink:causes Orphanet:99942 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7225 infores:orphanet PMID:20301462 Assessed uuid:97a2ce26-d8a7-11f1-ae73-e4fade41113c NCBIGene:54332 biolink:causes Orphanet:99944 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15968 infores:orphanet PMID:20301462 Assessed uuid:97a2ce27-d8a7-11f1-ae73-e4fade41113c NCBIGene:4359 biolink:causes Orphanet:99943 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7225 infores:orphanet PMID:20301462 Assessed uuid:97a2ce28-d8a7-11f1-ae73-e4fade41113c NCBIGene:23095 biolink:causes Orphanet:99946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16636 infores:orphanet PMID:11389829|PMID:20301462 Assessed loss_of_function_variant_form uuid:97a2ce29-d8a7-11f1-ae73-e4fade41113c NCBIGene:26353 biolink:causes Orphanet:99945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:30171 infores:orphanet PMID:20301462 Assessed uuid:97a2ce2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:7879 biolink:causes Orphanet:99936 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9788 infores:orphanet PMID:20301462 Assessed uuid:97a2ce2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:59341 biolink:causes Orphanet:99937 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18083 infores:orphanet PMID:20301462 Assessed uuid:97a2ce2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2617 biolink:causes Orphanet:99938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4162 infores:orphanet PMID:20301462 Assessed uuid:97a2ce2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:30061 biolink:causes Orphanet:648562 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10909 infores:orphanet PMID:34601591 Assessed loss_of_function_variant_form uuid:97a2ce2e-d8a7-11f1-ae73-e4fade41113c NCBIGene:7036 biolink:causes Orphanet:648581 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11762 infores:orphanet PMID:26799139 Assessed uuid:97a2ce2f-d8a7-11f1-ae73-e4fade41113c NCBIGene:57817 biolink:causes Orphanet:648581 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15598 infores:orphanet PMID:35449524 Assessed uuid:97a2ce30-d8a7-11f1-ae73-e4fade41113c NCBIGene:3077 biolink:causes Orphanet:648581 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4886 infores:orphanet PMID:34601591 Assessed uuid:97a2ce31-d8a7-11f1-ae73-e4fade41113c NCBIGene:148738 biolink:causes Orphanet:648581 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4887 infores:orphanet PMID:35449524 Assessed uuid:97a2ce32-d8a7-11f1-ae73-e4fade41113c NCBIGene:23405 biolink:contributes_to Orphanet:99916 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17098 infores:orphanet PMID:24761742|PMID:21205968|PMID:21882293 Assessed uuid:97a2ce33-d8a7-11f1-ae73-e4fade41113c NCBIGene:668 biolink:causes Orphanet:99915 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1092 infores:orphanet PMID:19516027 Assessed uuid:97a2ce34-d8a7-11f1-ae73-e4fade41113c NCBIGene:23405 biolink:contributes_to Orphanet:99915 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17098 infores:orphanet PMID:24761742|PMID:21205968|PMID:21882293 Assessed uuid:97a2ce35-d8a7-11f1-ae73-e4fade41113c NCBIGene:23405 biolink:contributes_to Orphanet:99914 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:17098 infores:orphanet PMID:24761742|PMID:21205968|PMID:21882293 Assessed uuid:97a2ce36-d8a7-11f1-ae73-e4fade41113c NCBIGene:28976 biolink:causes Orphanet:99901 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21497 infores:orphanet PMID:17564966 Assessed uuid:97a2ce37-d8a7-11f1-ae73-e4fade41113c NCBIGene:114548 biolink:causes Orphanet:647815 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16400 infores:orphanet PMID:36275641 Assessed uuid:97a2ce38-d8a7-11f1-ae73-e4fade41113c NCBIGene:745 biolink:causes Orphanet:647811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1181 infores:orphanet PMID:36695166 Assessed uuid:97a2ce39-d8a7-11f1-ae73-e4fade41113c NCBIGene:23149 biolink:causes Orphanet:647804 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:29002 infores:orphanet PMID:32098969 Assessed uuid:97a2ce3a-d8a7-11f1-ae73-e4fade41113c NCBIGene:30061 biolink:causes Orphanet:647834 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:10909 infores:orphanet PMID:11431687|PMID:34601591 Assessed gain_of_function_variant_form uuid:97a2ce3b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5573 biolink:causes Orphanet:647772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9388 infores:orphanet PMID:16464939 Assessed uuid:97a2ce3c-d8a7-11f1-ae73-e4fade41113c NCBIGene:50940 biolink:causes Orphanet:647772 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8773 infores:orphanet PMID:35992106 Assessed uuid:97a2ce3d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2077 biolink:causes Orphanet:647681 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3444 infores:orphanet PMID:36209295 Assessed uuid:97a2ce3e-d8a7-11f1-ae73-e4fade41113c NCBIGene:23040 biolink:causes Orphanet:647799 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:7623 infores:orphanet PMID:34748075 Assessed loss_of_function_variant_form uuid:97a2ce3f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3459 biolink:causes Orphanet:99898 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5439 infores:orphanet Assessed uuid:97a2ce40-d8a7-11f1-ae73-e4fade41113c NCBIGene:22907 biolink:causes Orphanet:647788 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16716 infores:orphanet PMID:34020708|PMID:29100085 Assessed uuid:97a2ce41-d8a7-11f1-ae73-e4fade41113c NCBIGene:50940 biolink:causes Orphanet:647782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8773 infores:orphanet PMID:35992106 Assessed uuid:97a2ce42-d8a7-11f1-ae73-e4fade41113c NCBIGene:8622 biolink:causes Orphanet:647782 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8794 infores:orphanet PMID:35992106 Assessed uuid:97a2ce43-d8a7-11f1-ae73-e4fade41113c NCBIGene:3572 biolink:causes Orphanet:656283 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6021 infores:orphanet PMID:35748970 Assessed loss_of_function_variant_form uuid:97a2ce44-d8a7-11f1-ae73-e4fade41113c NCBIGene:79577 biolink:causes Orphanet:99879 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16783 infores:orphanet PMID:20301744|PMID:15531515 Assessed uuid:97a2ce45-d8a7-11f1-ae73-e4fade41113c NCBIGene:4221 biolink:causes Orphanet:99879 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7010 infores:orphanet PMID:9792884|PMID:10664521|PMID:12699448 Assessed uuid:97a2ce46-d8a7-11f1-ae73-e4fade41113c NCBIGene:9247 biolink:causes Orphanet:99879 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4198 infores:orphanet PMID:27745835 Assessed uuid:97a2ce47-d8a7-11f1-ae73-e4fade41113c NCBIGene:55210 biolink:gene_associated_with_condition Orphanet:656279 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:25567 infores:orphanet PMID:32004445 Assessed uuid:97a2ce48-d8a7-11f1-ae73-e4fade41113c NCBIGene:83858 biolink:gene_associated_with_condition Orphanet:656279 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:24007 infores:orphanet PMID:32004445 Assessed uuid:97a2ce49-d8a7-11f1-ae73-e4fade41113c NCBIGene:219293 biolink:gene_associated_with_condition Orphanet:656279 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:32151 infores:orphanet PMID:32004445 Assessed uuid:97a2ce4a-d8a7-11f1-ae73-e4fade41113c NCBIGene:79577 biolink:causes Orphanet:99880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:16783 infores:orphanet PMID:12434154 Assessed gain_of_function_variant_form uuid:97a2ce4b-d8a7-11f1-ae73-e4fade41113c NCBIGene:3572 biolink:causes Orphanet:656313 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6021 infores:orphanet PMID:35748970 Assessed loss_of_function_variant_form uuid:97a2ce4c-d8a7-11f1-ae73-e4fade41113c NCBIGene:3572 biolink:causes Orphanet:656300 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6021 infores:orphanet PMID:34044328 Assessed uuid:97a2ce4d-d8a7-11f1-ae73-e4fade41113c NCBIGene:5087 biolink:causes Orphanet:656130 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:8632 infores:orphanet PMID:28566479 Assessed loss_of_function_variant_form uuid:97a2ce4e-d8a7-11f1-ae73-e4fade41113c NCBIGene:5455 biolink:causes Orphanet:656135 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9216 infores:orphanet PMID:31303265 Assessed uuid:97a2ce4f-d8a7-11f1-ae73-e4fade41113c NCBIGene:2623 biolink:causes Orphanet:99887 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:4170 infores:orphanet PMID:14636651 Assessed uuid:97a2ce50-d8a7-11f1-ae73-e4fade41113c NCBIGene:55914 biolink:causes Orphanet:656912 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15842 infores:orphanet PMID:28126831 Assessed loss_of_function_variant_form uuid:97a2ce51-d8a7-11f1-ae73-e4fade41113c NCBIGene:3570 biolink:causes Orphanet:656326 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6019 infores:orphanet PMID:31235509 Assessed uuid:97a2ce52-d8a7-11f1-ae73-e4fade41113c NCBIGene:6833 biolink:causes Orphanet:99885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:59 infores:orphanet PMID:21844708|PMID:22498247|PMID:20301620 Assessed uuid:97a2ce53-d8a7-11f1-ae73-e4fade41113c NCBIGene:2645 biolink:causes Orphanet:99885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4195 infores:orphanet PMID:21844708|PMID:22498247|PMID:20301620 Assessed uuid:97a2ce54-d8a7-11f1-ae73-e4fade41113c NCBIGene:3767 biolink:causes Orphanet:99885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6257 infores:orphanet PMID:21844708|PMID:22498247|PMID:20301620|PMID:24150202|PMID:24468099 Assessed uuid:97a2ce55-d8a7-11f1-ae73-e4fade41113c NCBIGene:3651 biolink:causes Orphanet:99885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6107 infores:orphanet PMID:20301620|PMID:22498247 Assessed uuid:97a2ce56-d8a7-11f1-ae73-e4fade41113c NCBIGene:6774 biolink:causes Orphanet:99885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11364 infores:orphanet PMID:28073828 Assessed gain_of_function_variant_form uuid:97a2ce57-d8a7-11f1-ae73-e4fade41113c NCBIGene:3630 biolink:causes Orphanet:99885 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6081 infores:orphanet PMID:21844708|PMID:22498247|PMID:20301620|PMID:23245869|PMID:23107109 Assessed uuid:97a2ce58-d8a7-11f1-ae73-e4fade41113c NCBIGene:6833 biolink:causes Orphanet:99886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:59 infores:orphanet PMID:21844708|PMID:22498247|PMID:21738553 Assessed uuid:97a2ce59-d8a7-11f1-ae73-e4fade41113c NCBIGene:3767 biolink:causes Orphanet:99886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6257 infores:orphanet PMID:21844708|PMID:22498247|PMID:21352428 Assessed uuid:97a2ce5a-d8a7-11f1-ae73-e4fade41113c NCBIGene:57061 biolink:causes Orphanet:99886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5326 infores:orphanet PMID:20301706|PMID:21844708|PMID:20803656 Assessed uuid:97a2ce5b-d8a7-11f1-ae73-e4fade41113c NCBIGene:5325 biolink:causes Orphanet:99886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9046 infores:orphanet PMID:20301706|PMID:21844708|PMID:20803656 Assessed uuid:97a2ce5c-d8a7-11f1-ae73-e4fade41113c NCBIGene:346171 biolink:causes Orphanet:99886 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:18791 infores:orphanet PMID:20301706|PMID:22498247|PMID:23150280|PMID:23499433 Assessed uuid:97a2ce5d-d8a7-11f1-ae73-e4fade41113c NCBIGene:1108 biolink:causes Orphanet:653712 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1919 infores:orphanet PMID:37324594|PMID:31388190 Assessed uuid:97a2ce5e-d8a7-11f1-ae73-e4fade41113c NCBIGene:1285 biolink:causes Orphanet:653722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2204 infores:orphanet PMID:5675912|PMID:34930753|PMID:35547199 Assessed uuid:97a2ce5f-d8a7-11f1-ae73-e4fade41113c NCBIGene:1286 biolink:causes Orphanet:653722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2206 infores:orphanet PMID:5675912|PMID:34930753|PMID:35547199 Assessed uuid:97a2ce60-d8a7-11f1-ae73-e4fade41113c NCBIGene:1287 biolink:causes Orphanet:653722 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2207 infores:orphanet PMID:5675912|PMID:34930753|PMID:35547199 Assessed uuid:97a2ce61-d8a7-11f1-ae73-e4fade41113c NCBIGene:3156 biolink:causes Orphanet:653725 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5006 infores:orphanet PMID:36745799|PMID:37167966 Assessed uuid:97a2ce62-d8a7-11f1-ae73-e4fade41113c NCBIGene:85446 biolink:causes Orphanet:653728 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20152 infores:orphanet PMID:29253101 Assessed uuid:97a2ce63-d8a7-11f1-ae73-e4fade41113c NCBIGene:25 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:76 infores:orphanet PMID:29279377 Assessed uuid:97a2ce64-d8a7-11f1-ae73-e4fade41113c NCBIGene:613 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:1014 infores:orphanet Assessed uuid:97a2ce65-d8a7-11f1-ae73-e4fade41113c NCBIGene:1029 biolink:causes Orphanet:99861 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:1787 infores:orphanet PMID:18838613 Assessed uuid:97a2ce66-d8a7-11f1-ae73-e4fade41113c NCBIGene:6886 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11556 infores:orphanet Assessed uuid:97a2ce67-d8a7-11f1-ae73-e4fade41113c NCBIGene:2322 biolink:causes Orphanet:99861 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3765 infores:orphanet PMID:16234090 Assessed uuid:97a2ce68-d8a7-11f1-ae73-e4fade41113c NCBIGene:4609 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7553 infores:orphanet Assessed uuid:97a2ce69-d8a7-11f1-ae73-e4fade41113c NCBIGene:8021 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8064 infores:orphanet PMID:29279377 Assessed uuid:97a2ce6a-d8a7-11f1-ae73-e4fade41113c NCBIGene:6491 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10879 infores:orphanet Assessed uuid:97a2ce6b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4602 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:7545 infores:orphanet Assessed uuid:97a2ce6c-d8a7-11f1-ae73-e4fade41113c NCBIGene:6957 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12155 infores:orphanet Assessed uuid:97a2ce6d-d8a7-11f1-ae73-e4fade41113c NCBIGene:6955 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12027 infores:orphanet PMID:29279377 Assessed uuid:97a2ce6e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6964 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12252 infores:orphanet Assessed uuid:97a2ce6f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8115 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11648 infores:orphanet Assessed uuid:97a2ce70-d8a7-11f1-ae73-e4fade41113c NCBIGene:3195 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:5056 infores:orphanet PMID:22516255|PMID:22516263 Assessed uuid:97a2ce71-d8a7-11f1-ae73-e4fade41113c NCBIGene:30012 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:13532 infores:orphanet PMID:22516255|PMID:22516263 Assessed uuid:97a2ce72-d8a7-11f1-ae73-e4fade41113c NCBIGene:4849 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:7879 infores:orphanet PMID:23263491 Not yet assessed uuid:97a2ce73-d8a7-11f1-ae73-e4fade41113c NCBIGene:8028 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:16063 infores:orphanet PMID:23673860 Assessed uuid:97a2ce74-d8a7-11f1-ae73-e4fade41113c NCBIGene:1654 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:2745 infores:orphanet PMID:23673860 Assessed uuid:97a2ce75-d8a7-11f1-ae73-e4fade41113c NCBIGene:8301 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:15514 infores:orphanet Assessed uuid:97a2ce76-d8a7-11f1-ae73-e4fade41113c NCBIGene:7704 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:12930 infores:orphanet PMID:29279377 Assessed uuid:97a2ce77-d8a7-11f1-ae73-e4fade41113c NCBIGene:6297 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10526 infores:orphanet PMID:29279377 Assessed uuid:97a2ce78-d8a7-11f1-ae73-e4fade41113c NCBIGene:6418 biolink:gene_associated_with_condition Orphanet:99861 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:10760 infores:orphanet PMID:29279377 Assessed uuid:97a2ce79-d8a7-11f1-ae73-e4fade41113c NCBIGene:755 biolink:causes Orphanet:653709 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1260 infores:orphanet PMID:27548899 Assessed uuid:97a2ce7a-d8a7-11f1-ae73-e4fade41113c NCBIGene:54440 biolink:causes Orphanet:653751 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:15975 infores:orphanet PMID:33876203|PMID:35464398 Assessed loss_of_function_variant_form uuid:97a2ce7b-d8a7-11f1-ae73-e4fade41113c NCBIGene:8493 biolink:causes Orphanet:653767 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9277 infores:orphanet PMID:28343630|PMID:7183572|PMID:37385405 Assessed uuid:97a2ce7c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1892 biolink:causes Orphanet:653880 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3151 infores:orphanet PMID:26506407 Assessed uuid:97a2ce7d-d8a7-11f1-ae73-e4fade41113c NCBIGene:2027 biolink:causes Orphanet:99849 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3354 infores:orphanet PMID:11506403 Assessed uuid:97a2ce7e-d8a7-11f1-ae73-e4fade41113c NCBIGene:4212 biolink:causes Orphanet:652514 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7001 infores:orphanet PMID:30055086 Assessed uuid:97a2ce7f-d8a7-11f1-ae73-e4fade41113c NCBIGene:23524 biolink:causes Orphanet:652487 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:16639 infores:orphanet PMID:35567594|PMID:37212523|PMID:37272925 Assessed uuid:97a2ce80-d8a7-11f1-ae73-e4fade41113c NCBIGene:4512 biolink:causes Orphanet:99845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7419 infores:orphanet Assessed uuid:97a2ce81-d8a7-11f1-ae73-e4fade41113c NCBIGene:4514 biolink:causes Orphanet:99845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7422 infores:orphanet Assessed uuid:97a2ce82-d8a7-11f1-ae73-e4fade41113c NCBIGene:23175 biolink:causes Orphanet:99845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13345 infores:orphanet Assessed uuid:97a2ce83-d8a7-11f1-ae73-e4fade41113c NCBIGene:84033 biolink:causes Orphanet:99845 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15719 infores:orphanet PMID:34957489 Assessed uuid:97a2ce84-d8a7-11f1-ae73-e4fade41113c NCBIGene:55343 biolink:causes Orphanet:99843 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:20197 infores:orphanet Assessed uuid:97a2ce85-d8a7-11f1-ae73-e4fade41113c NCBIGene:83706 biolink:causes Orphanet:99844 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23151 infores:orphanet Assessed loss_of_function_variant_form uuid:97a2ce86-d8a7-11f1-ae73-e4fade41113c NCBIGene:1967 biolink:causes Orphanet:99853 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3257 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce87-d8a7-11f1-ae73-e4fade41113c NCBIGene:8892 biolink:causes Orphanet:99853 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3258 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce88-d8a7-11f1-ae73-e4fade41113c NCBIGene:8891 biolink:causes Orphanet:99853 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3259 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce89-d8a7-11f1-ae73-e4fade41113c NCBIGene:8890 biolink:causes Orphanet:99853 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3260 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce8a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8893 biolink:causes Orphanet:99853 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3261 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce8b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57505 biolink:causes Orphanet:99853 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:21022 infores:orphanet PMID:24808023 Assessed loss_of_function_variant_form uuid:97a2ce8c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1967 biolink:causes Orphanet:99854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3257 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce8d-d8a7-11f1-ae73-e4fade41113c NCBIGene:8892 biolink:causes Orphanet:99854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3258 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce8e-d8a7-11f1-ae73-e4fade41113c NCBIGene:8891 biolink:causes Orphanet:99854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3259 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce8f-d8a7-11f1-ae73-e4fade41113c NCBIGene:8890 biolink:causes Orphanet:99854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3260 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce90-d8a7-11f1-ae73-e4fade41113c NCBIGene:8893 biolink:causes Orphanet:99854 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3261 infores:orphanet PMID:20301435|PMID:15136673 Assessed uuid:97a2ce91-d8a7-11f1-ae73-e4fade41113c NCBIGene:3735 biolink:causes Orphanet:652532 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6215 infores:orphanet PMID:28887846|PMID:30737337 Assessed uuid:97a2ce92-d8a7-11f1-ae73-e4fade41113c NCBIGene:9948 biolink:causes Orphanet:652522 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12754 infores:orphanet PMID:29751004|PMID:27994071 Assessed uuid:97a2ce93-d8a7-11f1-ae73-e4fade41113c NCBIGene:7201 biolink:causes Orphanet:99832 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12299 infores:orphanet PMID:20537182|PMID:22851492 Assessed loss_of_function_variant_form uuid:97a2ce94-d8a7-11f1-ae73-e4fade41113c NCBIGene:3689 biolink:causes Orphanet:99842 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6155 infores:orphanet Assessed uuid:97a2ce95-d8a7-11f1-ae73-e4fade41113c NCBIGene:84634 biolink:causes Orphanet:650097 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4510 infores:orphanet PMID:32228714 Assessed uuid:97a2ce96-d8a7-11f1-ae73-e4fade41113c NCBIGene:8788 biolink:causes Orphanet:650097 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2907 infores:orphanet PMID:30733078 Assessed uuid:97a2ce97-d8a7-11f1-ae73-e4fade41113c NCBIGene:3814 biolink:causes Orphanet:650097 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6341 infores:orphanet PMID:20237166 Assessed uuid:97a2ce98-d8a7-11f1-ae73-e4fade41113c NCBIGene:7681 biolink:causes Orphanet:650097 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7114 infores:orphanet PMID:23738509 Assessed uuid:97a2ce99-d8a7-11f1-ae73-e4fade41113c NCBIGene:84634 biolink:causes Orphanet:650077 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4510 infores:orphanet PMID:32228714 Assessed uuid:97a2ce9a-d8a7-11f1-ae73-e4fade41113c NCBIGene:8788 biolink:causes Orphanet:650077 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2907 infores:orphanet PMID:30733078 Assessed uuid:97a2ce9b-d8a7-11f1-ae73-e4fade41113c NCBIGene:7681 biolink:causes Orphanet:650077 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7114 infores:orphanet PMID:23738509 Assessed uuid:97a2ce9c-d8a7-11f1-ae73-e4fade41113c NCBIGene:2316 biolink:causes Orphanet:99811 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3754 infores:orphanet PMID:17357080 Assessed uuid:97a2ce9d-d8a7-11f1-ae73-e4fade41113c NCBIGene:4929 biolink:causes Orphanet:660012 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7981 infores:orphanet PMID:32366965 Assessed uuid:97a2ce9e-d8a7-11f1-ae73-e4fade41113c NCBIGene:3981 biolink:causes Orphanet:99812 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6601 infores:orphanet PMID:23372718 Assessed uuid:97a2ce9f-d8a7-11f1-ae73-e4fade41113c NCBIGene:154810 biolink:causes Orphanet:660021 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17811 infores:orphanet PMID:36751037 Assessed uuid:97a2cea0-d8a7-11f1-ae73-e4fade41113c NCBIGene:8930 biolink:causes Orphanet:661526 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6919 infores:orphanet PMID:35460607 Assessed uuid:97a2cea1-d8a7-11f1-ae73-e4fade41113c NCBIGene:6573 biolink:causes Orphanet:661412 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10937 infores:orphanet PMID:32276275 Assessed uuid:97a2cea2-d8a7-11f1-ae73-e4fade41113c NCBIGene:85358 biolink:causes Orphanet:662172 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:14294 infores:orphanet PMID:30537371|PMID:20385823 Assessed loss_of_function_variant_form uuid:97a2cea3-d8a7-11f1-ae73-e4fade41113c NCBIGene:7253 biolink:causes Orphanet:99819 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12373 infores:orphanet PMID:9854118 Assessed uuid:97a2cea4-d8a7-11f1-ae73-e4fade41113c NCBIGene:85358 biolink:gene_associated_with_condition Orphanet:662169 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:14294 infores:orphanet PMID:21841781 Assessed uuid:97a2cea5-d8a7-11f1-ae73-e4fade41113c NCBIGene:8405 biolink:causes Orphanet:662179 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:11254 infores:orphanet PMID:32109420 Assessed gain_of_function_variant_form uuid:97a2cea6-d8a7-11f1-ae73-e4fade41113c NCBIGene:8405 biolink:causes Orphanet:662175 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:11254 infores:orphanet PMID:32109420 Assessed loss_of_function_variant_form uuid:97a2cea7-d8a7-11f1-ae73-e4fade41113c NCBIGene:10236 biolink:causes Orphanet:662189 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5047 infores:orphanet PMID:31079900 Assessed uuid:97a2cea8-d8a7-11f1-ae73-e4fade41113c NCBIGene:51763 biolink:causes Orphanet:662184 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:33882 infores:orphanet PMID:28190459|PMID:28190456|PMID:33792664 Assessed uuid:97a2cea9-d8a7-11f1-ae73-e4fade41113c NCBIGene:3188 biolink:causes Orphanet:662198 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5042 infores:orphanet PMID:31670473|PMID:33728377|PMID:27545675 Assessed uuid:97a2ceaa-d8a7-11f1-ae73-e4fade41113c NCBIGene:1641 biolink:causes Orphanet:99796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2714 infores:orphanet Assessed uuid:97a2ceab-d8a7-11f1-ae73-e4fade41113c NCBIGene:5048 biolink:causes Orphanet:99796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8574 infores:orphanet PMID:20301752 Assessed uuid:97a2ceac-d8a7-11f1-ae73-e4fade41113c NCBIGene:2009 biolink:causes Orphanet:99796 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3330 infores:orphanet PMID:24859200 Assessed uuid:97a2cead-d8a7-11f1-ae73-e4fade41113c NCBIGene:1896 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3157 infores:orphanet Assessed uuid:97a2ceae-d8a7-11f1-ae73-e4fade41113c NCBIGene:128178 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14341 infores:orphanet Assessed uuid:97a2ceaf-d8a7-11f1-ae73-e4fade41113c NCBIGene:2260 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3688 infores:orphanet Assessed uuid:97a2ceb0-d8a7-11f1-ae73-e4fade41113c NCBIGene:3664 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6121 infores:orphanet Assessed uuid:97a2ceb1-d8a7-11f1-ae73-e4fade41113c NCBIGene:80326 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13829 infores:orphanet Assessed uuid:97a2ceb2-d8a7-11f1-ae73-e4fade41113c NCBIGene:4487 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7391 infores:orphanet Assessed uuid:97a2ceb3-d8a7-11f1-ae73-e4fade41113c NCBIGene:5083 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8623 infores:orphanet Assessed uuid:97a2ceb4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7341 biolink:gene_associated_with_condition Orphanet:99798 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12502 infores:orphanet Not yet assessed uuid:97a2ceb5-d8a7-11f1-ae73-e4fade41113c NCBIGene:7039 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11765 infores:orphanet Assessed uuid:97a2ceb6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4040 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:6698 infores:orphanet PMID:26387593 Assessed loss_of_function_variant_form uuid:97a2ceb7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7480 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12775 infores:orphanet PMID:27321946 Assessed uuid:97a2ceb8-d8a7-11f1-ae73-e4fade41113c NCBIGene:64388 biolink:causes Orphanet:99798 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17655 infores:orphanet PMID:26416033 Assessed uuid:97a2ceb9-d8a7-11f1-ae73-e4fade41113c NCBIGene:5290 biolink:causes Orphanet:99802 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:8975 infores:orphanet PMID:22729223 Assessed uuid:97a2ceba-d8a7-11f1-ae73-e4fade41113c NCBIGene:10000 biolink:causes Orphanet:99802 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:393 infores:orphanet PMID:22500628 Assessed uuid:97a2cebb-d8a7-11f1-ae73-e4fade41113c NCBIGene:2475 biolink:causes Orphanet:99802 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing somatic mutation(s) in HGNC:3942 infores:orphanet PMID:32140648 Assessed uuid:97a2cebc-d8a7-11f1-ae73-e4fade41113c NCBIGene:221496 biolink:causes Orphanet:659873 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21244 infores:orphanet PMID:37867468|PMID:30905398 Assessed uuid:97a2cebd-d8a7-11f1-ae73-e4fade41113c NCBIGene:8929 biolink:causes Orphanet:99803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9143 infores:orphanet Assessed uuid:97a2cebe-d8a7-11f1-ae73-e4fade41113c NCBIGene:5979 biolink:causes Orphanet:99803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9967 infores:orphanet PMID:9565426 Assessed uuid:97a2cebf-d8a7-11f1-ae73-e4fade41113c NCBIGene:429 biolink:causes Orphanet:99803 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:738 infores:orphanet Assessed uuid:97a2cec0-d8a7-11f1-ae73-e4fade41113c NCBIGene:2248 biolink:gene_associated_with_condition Orphanet:99806 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3681 infores:orphanet PMID:17656375 Assessed uuid:97a2cec1-d8a7-11f1-ae73-e4fade41113c NCBIGene:8772 biolink:gene_associated_with_condition Orphanet:99806 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:3573 infores:orphanet PMID:17656375 Assessed uuid:97a2cec2-d8a7-11f1-ae73-e4fade41113c NCBIGene:55704 biolink:causes Orphanet:99807 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:25523 infores:orphanet PMID:26917597 Assessed loss_of_function_variant_form uuid:97a2cec3-d8a7-11f1-ae73-e4fade41113c NCBIGene:57479 biolink:causes Orphanet:659904 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:29217 infores:orphanet PMID:33824499 Assessed loss_of_function_variant_form uuid:97a2cec4-d8a7-11f1-ae73-e4fade41113c NCBIGene:1282 biolink:causes Orphanet:99810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2202 infores:orphanet Assessed uuid:97a2cec5-d8a7-11f1-ae73-e4fade41113c NCBIGene:1284 biolink:causes Orphanet:99810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2203 infores:orphanet Assessed uuid:97a2cec6-d8a7-11f1-ae73-e4fade41113c NCBIGene:79709 biolink:causes Orphanet:99810 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26182 infores:orphanet PMID:30412317|PMID:33709034 Assessed uuid:97a2cec7-d8a7-11f1-ae73-e4fade41113c NCBIGene:79029 biolink:causes Orphanet:659975 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28762 infores:orphanet PMID:34626583 Assessed uuid:97a2cec8-d8a7-11f1-ae73-e4fade41113c NCBIGene:8726 biolink:causes Orphanet:659396 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3188 infores:orphanet PMID:30793471 Assessed uuid:97a2cec9-d8a7-11f1-ae73-e4fade41113c NCBIGene:139818 biolink:causes Orphanet:658951 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:23483 infores:orphanet PMID:37342957 Assessed loss_of_function_variant_form uuid:97a2ceca-d8a7-11f1-ae73-e4fade41113c NCBIGene:5881 biolink:causes Orphanet:659609 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:9803 infores:orphanet PMID:35851598 Assessed gain_of_function_variant_form uuid:97a2cecb-d8a7-11f1-ae73-e4fade41113c NCBIGene:23512 biolink:causes Orphanet:659463 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17101 infores:orphanet PMID:30019515 Assessed uuid:97a2cecc-d8a7-11f1-ae73-e4fade41113c NCBIGene:9525 biolink:causes Orphanet:99789 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:10895 infores:orphanet PMID:27247351 Assessed loss_of_function_variant_form uuid:97a2cecd-d8a7-11f1-ae73-e4fade41113c NCBIGene:51066 biolink:causes Orphanet:99789 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24809 infores:orphanet PMID:27680507 Assessed uuid:97a2cece-d8a7-11f1-ae73-e4fade41113c NCBIGene:1371 biolink:causes Orphanet:659672 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2321 infores:orphanet PMID:30828546 Assessed uuid:97a2cecf-d8a7-11f1-ae73-e4fade41113c NCBIGene:7468 biolink:causes Orphanet:659642 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:12766 infores:orphanet PMID:33941880 Assessed loss_of_function_variant_form uuid:97a2ced0-d8a7-11f1-ae73-e4fade41113c NCBIGene:372 biolink:causes Orphanet:659702 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:649 infores:orphanet PMID:35300924 Assessed loss_of_function_variant_form uuid:97a2ced1-d8a7-11f1-ae73-e4fade41113c NCBIGene:1834 biolink:causes Orphanet:99791 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3054 infores:orphanet Assessed uuid:97a2ced2-d8a7-11f1-ae73-e4fade41113c NCBIGene:10229 biolink:causes Orphanet:658778 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2244 infores:orphanet PMID:37077559 Assessed uuid:97a2ced3-d8a7-11f1-ae73-e4fade41113c NCBIGene:1788 biolink:causes Orphanet:658595 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:2978 infores:orphanet PMID:37517811 Assessed gain_of_function_variant_form uuid:97a2ced4-d8a7-11f1-ae73-e4fade41113c NCBIGene:4522 biolink:causes Orphanet:658813 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7432 infores:orphanet PMID:21813566 Assessed uuid:97a2ced5-d8a7-11f1-ae73-e4fade41113c NCBIGene:253738 biolink:causes Orphanet:658843 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19087 infores:orphanet PMID:28017373 Assessed uuid:97a2ced6-d8a7-11f1-ae73-e4fade41113c NCBIGene:57822 biolink:contributes_to Orphanet:99772 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25839 infores:orphanet PMID:27018472|PMID:27018475 Assessed uuid:97a2ced7-d8a7-11f1-ae73-e4fade41113c NCBIGene:7314 biolink:gene_associated_with_condition Orphanet:99772 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12463 infores:orphanet PMID:17468296 Not yet assessed uuid:97a2ced8-d8a7-11f1-ae73-e4fade41113c NCBIGene:57822 biolink:contributes_to Orphanet:99771 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Major susceptibility factor in HGNC:25839 infores:orphanet PMID:27018472|PMID:27018475 Assessed uuid:97a2ced9-d8a7-11f1-ae73-e4fade41113c NCBIGene:7314 biolink:gene_associated_with_condition Orphanet:99771 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Candidate gene tested in HGNC:12463 infores:orphanet PMID:17468296 Not yet assessed uuid:97a2ceda-d8a7-11f1-ae73-e4fade41113c NCBIGene:139818 biolink:causes Orphanet:658946 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23483 infores:orphanet PMID:36952639 Assessed uuid:97a2cedb-d8a7-11f1-ae73-e4fade41113c NCBIGene:5833 biolink:causes Orphanet:631073 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8756 infores:orphanet PMID:31637422 Assessed uuid:97a2cedc-d8a7-11f1-ae73-e4fade41113c NCBIGene:84842 biolink:causes Orphanet:631076 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28242 infores:orphanet PMID:33188300 Assessed uuid:97a2cedd-d8a7-11f1-ae73-e4fade41113c NCBIGene:5297 biolink:causes Orphanet:631079 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8983 infores:orphanet PMID:34415322 Assessed uuid:97a2cede-d8a7-11f1-ae73-e4fade41113c NCBIGene:81790 biolink:causes Orphanet:631082 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25358 infores:orphanet PMID:31636353 Assessed uuid:97a2cedf-d8a7-11f1-ae73-e4fade41113c NCBIGene:51271 biolink:causes Orphanet:631068 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:12461 infores:orphanet PMID:30929741 Assessed uuid:97a2cee0-d8a7-11f1-ae73-e4fade41113c NCBIGene:219285 biolink:causes Orphanet:631106 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1349 infores:orphanet PMID:35310830 Assessed uuid:97a2cee1-d8a7-11f1-ae73-e4fade41113c NCBIGene:10273 biolink:causes Orphanet:631103 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11427 infores:orphanet PMID:30381368 Assessed uuid:97a2cee2-d8a7-11f1-ae73-e4fade41113c NCBIGene:2911 biolink:causes Orphanet:631095 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4593 infores:orphanet PMID:28886343 Assessed uuid:97a2cee3-d8a7-11f1-ae73-e4fade41113c NCBIGene:57156 biolink:causes Orphanet:631088 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:23787 infores:orphanet PMID:35718349 Assessed uuid:97a2cee4-d8a7-11f1-ae73-e4fade41113c NCBIGene:7920 biolink:causes Orphanet:631085 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13921 infores:orphanet PMID:34489854 Assessed uuid:97a2cee5-d8a7-11f1-ae73-e4fade41113c NCBIGene:51 biolink:causes Orphanet:631248 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:119 infores:orphanet PMID:32169171 Assessed uuid:97a2cee6-d8a7-11f1-ae73-e4fade41113c NCBIGene:4771 biolink:causes Orphanet:634475 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7773 infores:orphanet PMID:35674741 Assessed uuid:97a2cee7-d8a7-11f1-ae73-e4fade41113c NCBIGene:4763 biolink:causes Orphanet:634461 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7765 infores:orphanet PMID:34012067 Assessed uuid:97a2cee8-d8a7-11f1-ae73-e4fade41113c NCBIGene:4625 biolink:causes Orphanet:636970 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7577 infores:orphanet PMID:17372140 Assessed uuid:97a2cee9-d8a7-11f1-ae73-e4fade41113c NCBIGene:4625 biolink:causes Orphanet:636965 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7577 infores:orphanet PMID:21288719 Assessed uuid:97a2ceea-d8a7-11f1-ae73-e4fade41113c NCBIGene:6595 biolink:causes Orphanet:637013 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11098 infores:orphanet PMID:32694869 Assessed uuid:97a2ceeb-d8a7-11f1-ae73-e4fade41113c NCBIGene:1281 biolink:causes Orphanet:636941 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2201 infores:orphanet PMID:28742248 Assessed uuid:97a2ceec-d8a7-11f1-ae73-e4fade41113c NCBIGene:3131 biolink:gene_associated_with_condition Orphanet:641375 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:4977 infores:orphanet PMID:20519628 Assessed uuid:97a2ceed-d8a7-11f1-ae73-e4fade41113c NCBIGene:6929 biolink:gene_associated_with_condition Orphanet:641375 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:11633 infores:orphanet PMID:23346431 Assessed uuid:97a2ceee-d8a7-11f1-ae73-e4fade41113c NCBIGene:84905 biolink:causes Orphanet:641368 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:15992 infores:orphanet PMID:30264496 Assessed uuid:97a2ceef-d8a7-11f1-ae73-e4fade41113c NCBIGene:26053 biolink:gene_associated_with_condition Orphanet:641372 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:14262 infores:orphanet PMID:22578776 Assessed uuid:97a2cef0-d8a7-11f1-ae73-e4fade41113c NCBIGene:5079 biolink:gene_associated_with_condition Orphanet:641372 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Part of a fusion gene in HGNC:8619 infores:orphanet PMID:21962897|PMID:22578776|PMID:17179230 Assessed uuid:97a2cef1-d8a7-11f1-ae73-e4fade41113c NCBIGene:84842 biolink:causes Orphanet:641353 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:28242 infores:orphanet PMID:33188300 Assessed uuid:97a2cef2-d8a7-11f1-ae73-e4fade41113c NCBIGene:56915 biolink:causes Orphanet:641361 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24662 infores:orphanet PMID:30950035|PMID:32504085 Assessed uuid:97a2cef3-d8a7-11f1-ae73-e4fade41113c NCBIGene:3295 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5213 infores:orphanet PMID:20673864 Assessed uuid:97a2cef4-d8a7-11f1-ae73-e4fade41113c NCBIGene:56652 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1160 infores:orphanet PMID:25355836 Assessed uuid:97a2cef5-d8a7-11f1-ae73-e4fade41113c NCBIGene:23438 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4817 infores:orphanet PMID:21464306 Assessed uuid:97a2cef6-d8a7-11f1-ae73-e4fade41113c NCBIGene:55005 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21176 infores:orphanet PMID:34338890 Assessed uuid:97a2cef7-d8a7-11f1-ae73-e4fade41113c NCBIGene:8192 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2084 infores:orphanet PMID:23541340 Assessed uuid:97a2cef8-d8a7-11f1-ae73-e4fade41113c NCBIGene:23395 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17095 infores:orphanet PMID:23541342 Assessed uuid:97a2cef9-d8a7-11f1-ae73-e4fade41113c NCBIGene:26284 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3424 infores:orphanet PMID:26970254 Assessed uuid:97a2cefa-d8a7-11f1-ae73-e4fade41113c NCBIGene:9453 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4249 infores:orphanet PMID:32403198 Assessed uuid:97a2cefb-d8a7-11f1-ae73-e4fade41113c NCBIGene:9692 biolink:causes Orphanet:642976 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19958 infores:orphanet PMID:34715011 Assessed loss_of_function_variant_form uuid:97a2cefc-d8a7-11f1-ae73-e4fade41113c NCBIGene:5828 biolink:causes Orphanet:642965 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:9717 infores:orphanet PMID:21392394 Assessed uuid:97a2cefd-d8a7-11f1-ae73-e4fade41113c NCBIGene:9409 biolink:causes Orphanet:642954 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8857 infores:orphanet PMID:26644994 Assessed uuid:97a2cefe-d8a7-11f1-ae73-e4fade41113c NCBIGene:7818 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2673 infores:orphanet PMID:39701103 Assessed uuid:97a2ceff-d8a7-11f1-ae73-e4fade41113c NCBIGene:3295 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:5213 infores:orphanet PMID:20673864 Assessed uuid:97a2cf00-d8a7-11f1-ae73-e4fade41113c NCBIGene:56652 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1160 infores:orphanet PMID:25355836 Assessed uuid:97a2cf01-d8a7-11f1-ae73-e4fade41113c NCBIGene:23438 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4817 infores:orphanet PMID:21464306 Assessed uuid:97a2cf02-d8a7-11f1-ae73-e4fade41113c NCBIGene:55005 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:21176 infores:orphanet PMID:34338890 Assessed uuid:97a2cf03-d8a7-11f1-ae73-e4fade41113c NCBIGene:8192 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2084 infores:orphanet PMID:26970254 Assessed uuid:97a2cf04-d8a7-11f1-ae73-e4fade41113c NCBIGene:23395 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17095 infores:orphanet PMID:23541342 Assessed uuid:97a2cf05-d8a7-11f1-ae73-e4fade41113c NCBIGene:26284 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3424 infores:orphanet PMID:26970254 Assessed uuid:97a2cf06-d8a7-11f1-ae73-e4fade41113c NCBIGene:9453 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4249 infores:orphanet PMID:32403198 Assessed uuid:97a2cf07-d8a7-11f1-ae73-e4fade41113c NCBIGene:9692 biolink:causes Orphanet:642945 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19958 infores:orphanet PMID:34715011 Assessed loss_of_function_variant_form uuid:97a2cf08-d8a7-11f1-ae73-e4fade41113c NCBIGene:3008 biolink:causes Orphanet:642763 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4718 infores:orphanet PMID:31400068 Assessed uuid:97a2cf09-d8a7-11f1-ae73-e4fade41113c NCBIGene:9698 biolink:causes Orphanet:642747 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14957 infores:orphanet PMID:31422002 Assessed uuid:97a2cf0a-d8a7-11f1-ae73-e4fade41113c NCBIGene:2332 biolink:causes Orphanet:642691 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3775 infores:orphanet PMID:36447079 Assessed uuid:97a2cf0b-d8a7-11f1-ae73-e4fade41113c NCBIGene:57680 biolink:causes Orphanet:642675 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:20153 infores:orphanet PMID:24998929|PMID:26789910 Assessed loss_of_function_variant_form uuid:97a2cf0c-d8a7-11f1-ae73-e4fade41113c NCBIGene:8912 biolink:causes Orphanet:642671 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (gain of function) in HGNC:1395 infores:orphanet PMID:27729216|PMID:25907736 Assessed gain_of_function_variant_form uuid:97a2cf0d-d8a7-11f1-ae73-e4fade41113c NCBIGene:126792 biolink:causes Orphanet:642099 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17978 infores:orphanet PMID:36779427 Assessed uuid:97a2cf0e-d8a7-11f1-ae73-e4fade41113c NCBIGene:23233 biolink:causes Orphanet:642085 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:17085 infores:orphanet PMID:36779427 Assessed uuid:97a2cf0f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3899 biolink:causes Orphanet:632603 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6473 infores:orphanet PMID:33961779 Assessed uuid:97a2cf10-d8a7-11f1-ae73-e4fade41113c NCBIGene:6558 biolink:causes Orphanet:633021 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10911 infores:orphanet PMID:34797034 Assessed uuid:97a2cf11-d8a7-11f1-ae73-e4fade41113c NCBIGene:6558 biolink:causes Orphanet:633024 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10911 infores:orphanet PMID:32658972 Assessed uuid:97a2cf12-d8a7-11f1-ae73-e4fade41113c NCBIGene:51780 biolink:causes Orphanet:633004 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1337 infores:orphanet PMID:30929739 Assessed uuid:97a2cf13-d8a7-11f1-ae73-e4fade41113c NCBIGene:1315 biolink:causes Orphanet:633035 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2231 infores:orphanet PMID:33632302 Assessed uuid:97a2cf14-d8a7-11f1-ae73-e4fade41113c NCBIGene:1363 biolink:causes Orphanet:633028 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:2303 infores:orphanet PMID:34383079 Assessed uuid:97a2cf15-d8a7-11f1-ae73-e4fade41113c NCBIGene:10606 biolink:causes Orphanet:633099 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:8587 infores:orphanet PMID:31600779 Assessed uuid:97a2cf16-d8a7-11f1-ae73-e4fade41113c NCBIGene:84188 biolink:causes Orphanet:615938 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26222 infores:orphanet PMID:33239752 Assessed uuid:97a2cf17-d8a7-11f1-ae73-e4fade41113c NCBIGene:55210 biolink:gene_associated_with_condition Orphanet:615986 biolink:CorrelatedGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Role in the phenotype of HGNC:25567 infores:orphanet PMID:27640307 Assessed uuid:97a2cf18-d8a7-11f1-ae73-e4fade41113c NCBIGene:55210 biolink:causes Orphanet:615983 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:25567 infores:orphanet PMID:28549128 Assessed uuid:97a2cf19-d8a7-11f1-ae73-e4fade41113c NCBIGene:374354 biolink:causes Orphanet:621758 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:24731 infores:orphanet PMID:30138417|PMID:30239752 Assessed uuid:97a2cf1a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4565 biolink:causes Orphanet:620371 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7488 infores:orphanet PMID:34607911 Assessed uuid:97a2cf1b-d8a7-11f1-ae73-e4fade41113c NCBIGene:4558 biolink:causes Orphanet:620371 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7481 infores:orphanet PMID:34607911 Assessed uuid:97a2cf1c-d8a7-11f1-ae73-e4fade41113c NCBIGene:1950 biolink:causes Orphanet:620368 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3229 infores:orphanet PMID:17671655 Assessed uuid:97a2cf1d-d8a7-11f1-ae73-e4fade41113c NCBIGene:54805 biolink:causes Orphanet:620363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:103 infores:orphanet PMID:33600043 Assessed uuid:97a2cf1e-d8a7-11f1-ae73-e4fade41113c NCBIGene:6557 biolink:causes Orphanet:620217 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:10910 infores:orphanet PMID:28095294 Assessed uuid:97a2cf1f-d8a7-11f1-ae73-e4fade41113c NCBIGene:3758 biolink:causes Orphanet:620220 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:6255 infores:orphanet PMID:26963954 Assessed uuid:97a2cf20-d8a7-11f1-ae73-e4fade41113c NCBIGene:80199 biolink:causes Orphanet:620158 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:26219 infores:orphanet PMID:34719684 Assessed uuid:97a2cf21-d8a7-11f1-ae73-e4fade41113c NCBIGene:406932 biolink:causes Orphanet:623695 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:31527 infores:orphanet PMID:30804514 Assessed uuid:97a2cf22-d8a7-11f1-ae73-e4fade41113c NCBIGene:633 biolink:causes Orphanet:622925 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:1044 infores:orphanet PMID:27632686 Assessed loss_of_function_variant_form uuid:97a2cf23-d8a7-11f1-ae73-e4fade41113c NCBIGene:51119 biolink:causes Orphanet:622934 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:19440 infores:orphanet PMID:31633310 Assessed uuid:97a2cf24-d8a7-11f1-ae73-e4fade41113c NCBIGene:6609 biolink:causes Orphanet:618891 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:11120 infores:orphanet PMID:15877209|PMID:28406489 Assessed uuid:97a2cf25-d8a7-11f1-ae73-e4fade41113c NCBIGene:2161 biolink:causes Orphanet:617919 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:3530 infores:orphanet PMID:31924766 Assessed uuid:97a2cf26-d8a7-11f1-ae73-e4fade41113c NCBIGene:57591 biolink:causes Orphanet:619941 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:14334 infores:orphanet PMID:32128589 Assessed uuid:97a2cf27-d8a7-11f1-ae73-e4fade41113c NCBIGene:219285 biolink:causes Orphanet:619367 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1349 infores:orphanet PMID:31874111 Assessed uuid:97a2cf28-d8a7-11f1-ae73-e4fade41113c NCBIGene:3071 biolink:causes Orphanet:619953 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:4862 infores:orphanet PMID:32766723 Assessed uuid:97a2cf29-d8a7-11f1-ae73-e4fade41113c NCBIGene:8651 biolink:causes Orphanet:619948 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:19383 infores:orphanet PMID:32853638 Assessed loss_of_function_variant_form uuid:97a2cf2a-d8a7-11f1-ae73-e4fade41113c NCBIGene:4780 biolink:causes Orphanet:619979 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:7782 infores:orphanet PMID:31953710 Assessed uuid:97a2cf2b-d8a7-11f1-ae73-e4fade41113c NCBIGene:84433 biolink:causes Orphanet:619972 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) (loss of function) in HGNC:16393 infores:orphanet PMID:31953710 Assessed loss_of_function_variant_form uuid:97a2cf2c-d8a7-11f1-ae73-e4fade41113c NCBIGene:998 biolink:causes Orphanet:619363 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:1736 infores:orphanet PMID:31271789 Assessed uuid:97a2cf2d-d8a7-11f1-ae73-e4fade41113c NCBIGene:53335 biolink:causes Orphanet:619233 biolink:CausalGeneToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Disease-causing germline mutation(s) in HGNC:13221 infores:orphanet PMID:27453576 Assessed