Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 Biomarker disease CTD_human
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79728
Gene Symbol: PALB2
PALB2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2271
Gene Symbol: FH
FH 		0.030 Biomarker disease BEFREE Fumarate hydratase: (FH) was recently identified as the predisposing gene for a tumor predisposition syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839). 15523491 2005
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		0.030 GeneticVariation disease BEFREE DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. 22180160 2012
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		0.030 GeneticVariation disease BEFREE DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations. 27830405 2017
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		0.030 GeneticVariation disease BEFREE DICER1 mutations are known to be present in a majority of PPBs with or without a germline mutation and may be part of a familial tumor predisposition syndrome. 28991133 2017
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 CausalMutation disease CLINVAR Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients. 25687217 2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 GeneticVariation disease BEFREE As BIMTs can serve as an early marker of the BAP1 hereditary tumor predisposition syndrome, we believe a need exists for a more comprehensive combined clinical and pathological approach for BIMT identification. 31206729 2019
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 Biomarker disease BEFREE As our BCCs probably developed independently from the BAP1-TPDS and UMs frequently show loss of nuclear BAP1 staining, genetic analysis is mandatory to diagnose this syndrome. 30578689 2019
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 Biomarker disease CLINGEN Bap1 Is a Bona Fide Tumor Suppressor: Genetic Evidence from Mouse Models Carrying Heterozygous Germline Bap1 Mutations. 26896281 2016
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 CausalMutation disease CLINVAR BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. 18757409 2008
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 CausalMutation disease CLINVAR Clinical Characteristics of Uveal Melanoma in Patients With Germline BAP1 Mutations. 25974357 2015
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 CausalMutation disease 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 		0.790 CausalMutation disease CLINVAR Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. 24243779 2014
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 CausalMutation disease 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 		0.790 Biomarker disease CLINGEN Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. 21941004 2011
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 CausalMutation disease 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 		0.790 GermlineCausalMutation disease ORPHANET Germline BAP1 mutations and tumor susceptibility. 21956388 2011
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 GeneticVariation disease CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 Biomarker disease CLINGEN Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 CausalMutation disease CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.790 GeneticVariation disease CLINVAR Germline BAP1 mutations predispose to renal cell carcinomas. 23684012 2013