BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: TUMOR PREDISPOSITION SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906848
rs387906848
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. 24243779 2014
dbSNP: rs387906848
rs387906848
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR Germline BAP1 mutations predispose to malignant mesothelioma. 21874000 2011
dbSNP: rs387906848
rs387906848
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C3280492
Disease:
TUMOR PREDISPOSITION SYNDROME 		A 0.700 CausalMutation CLINVAR BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. 18757409 2008