Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation BEFREE The deubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with a high risk of mesothelioma and melanocytic tumors. 30156010

2019
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 Biomarker BEFREE Germline pathogenic variants in BRCA1-associated protein-1 (BAP1), a nuclear ubiquitin carboxy-terminal hydrolase with evidence suggestive of independent tumor suppressor function, predispose affected families to uveal melanoma, cutaneous melanoma, renal cell carcinoma, malignant mesothelioma, and possibly a range of other tumors and malignancies as part of the BAP1 tumor predisposition syndrome, a recently recognized hereditary cancer syndrome. 29061454

2018
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR A BAP1 Mutation-specific MicroRNA Signature Predicts Clinical Outcomes in Clear Cell Renal Cell Carcinoma Patients with Wild-type BAP1. 28900502

2017
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. 28793149

2017
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. 26096145

2016
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. 26719535

2016
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. 27181379

2016
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation BEFREE We report data on BAP1 analysis in four families with multiple mesothelioma cases to investigate possible BAP1 alterations associated with an inherited cancer syndrome. 27751355

2016
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217

2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s. 26683624

2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes. 25501392

2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation BEFREE Ocular melanoma and the BAP1 hereditary cancer syndrome: implications for the dermatologist. 24697775

2014
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 Biomarker BEFREE We also studied four additional patients with a personal or family history suggestive of BAP1 hereditary cancer syndrome. 24243779

2014
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 AlteredExpression BEFREE Multiple epithelioid Spitz nevi or tumors with loss of BAP1 expression: a clue to a hereditary tumor syndrome. 23552620

2013
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Hereditary uveal melanoma: a report of a germline mutation in BAP1. 23341325

2013
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation BEFREE De-ubiquitinating enzyme BAP1 is mutated in a hereditary cancer syndrome with increased risk of mesothelioma and uveal melanoma. 22878500

2012
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. 22545102

2012
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation BEFREE This study reports a novel hereditary cancer syndrome caused by a germline BAP1 mutation that predisposes patients to UM, lung carcinoma, meningioma, and possibly other cancers. 21941004

2011
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000

2011