PBRM1, polybromo 1, 55193

N. diseases: 105; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.030 Biomarker disease BEFREE Polybromo-1 (PBRM1) is an important tumor suppressor in kidney cancer. 30585695 2019
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.030 Biomarker disease BEFREE Recently, exome sequencing studies have revealed that the SWI/SNF (switch/sucrose nonfermentable) members PBRM1 and ARID1A are mutated in ccRCC, and it has also been suggested that aberrant chromatin regulation is a key step in kidney cancer pathogenesis. 23416164 2013
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma
0.030 Biomarker disease BEFREE Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. 21248752 2011