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: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.350 GeneticVariation disease BEFREE BAP1-TPDS is associated with an increased risk of developing uveal melanoma (UM), cutaneous melanoma (CM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), meningioma, cholangiocarcinoma, multiple non-melanoma skin cancers, and <i>BAP1</i>-inactivated nevi. 31382694 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.350 Biomarker disease BEFREE The deubiquitinating enzyme BAP1 is a tumor suppressor, among others involved in cholangiocarcinoma. 31130514 2019
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.350 GeneticVariation disease BEFREE Although the pooled results demonstrated that BAP1 mutation was a negative indicator of overall survival (hazard ratio = 1.73; 95% confidence interval = 1.23-2.42) and disease-free survival (hazard ratio = 2.25; 95% confidence interval = 1.47-3.45), this prognostic value was only applicable to uveal melanoma and clear cell renal cell carcinoma, but not to malignant pleural mesothelioma or cholangiocarcinoma. 28618948 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.350 Biomarker disease BEFREE A BAP1 dependent alteration in expression of lncRNA NEAT-1 was identified by RT-PCR based lncRNA expression profiling, and an inverse relationship between this lncRNA and BAP1 was observed in analysis of the Tumor Cancer Genome Atlas cholangiocarcinoma dataset. 28122578 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.350 Biomarker disease BEFREE BAP1 is a tumor suppressor gene that is lost or deleted in diverse cancers, including uveal mela¬noma, malignant pleural mesothelioma (MPM), clear cell renal carcinoma, and cholangiocarcinoma. 25830670 2015
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.350 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: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.350 Biomarker disease CTD_human Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. 24185509 2013