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: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 GeneticVariation disease BEFREE The <i>BAP1</i> gene is mutated in about 10% of patients with ccRCC, the most common form of renal cancer, suggesting that BAP1 is a tumor suppressor. 30992312 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 GeneticVariation disease BEFREE Although we did find three VUS's in BAP1 in three families and a pathogenic variant in MITF in one family, pathogenic germline variants in BAP1, MITF or CDKN2B are not frequent causes of hereditary renal cancer in Denmark. 31034483 2019
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 GeneticVariation disease BEFREE We found a bidirectional association of pleural MM with kidney cancer for overall and for <1 year follow-up, suggesting the involvement of germline BAP1 mutations and increased medical surveillance, while the bidirectional association of pleural MM with unknown primary cancer suggests shared genetic or environmental risk factors. 27260871 2016
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 Biomarker disease CTD_human Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer. 26719535 2016
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 GeneticVariation disease BEFREE Thus, the combination of gender and mutation of a specific gene, such as BAP1, may have implications not only for prognosis but also for understanding the role of chromatin remodeling gene mutations in kidney cancer progression. 26484545 2015
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 GeneticVariation disease BEFREE Somatic mutations of BRCA1 associated protein-1 (BAP1) gene were recently found in MM as well as in uveal melanoma and kidney cancer among the Caucasian and Japanese people. 26246155 2015
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 GeneticVariation disease BEFREE BAP1 mutations may drive tumor development in a subset of patients with inherited renal cell cancer. 23709298 2013
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 CausalMutation disease CGI
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney
0.560 GenomicAlterations disease CGI