BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.330 AlteredExpression disease BEFREE This study documents that the loss of BAP1 nuclear expression is quite a frequent finding in PCC/PGL, suggesting a possible role of BAP1 in the pathogenesis of these tumors. 31734934 2019
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.330 GeneticVariation disease BEFREE History revealed that his father had died of paraganglioma, which is also associated with BAP1 mutations. 29974497 2018
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.330 Biomarker disease CTD_human Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area. 25231345 2015
CUI: C0030421
Disease: Paraganglioma
Paraganglioma
0.330 GeneticVariation disease BEFREE Our findings further support BAP1 as a melanoma susceptibility gene and extend the potential predisposition spectrum to paraganglioma. 22889334 2012