BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Thymoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040100
Disease: Thymoma
Thymoma 		0.310 Biomarker disease BEFREE Genes in histone modification [BAP1 (n = 6; 13%), SETD2 (n = 5; 11%), ASXL1 (n = 2; 4%)], chromatin remodeling [SMARCA4 (n = 2; 4%)], and DNA methylation [DNMT3A (n = 3; 7%), TET2 (n = 2; 4%), WT1 (n = 2; 4%)] pathways were recurrently mutated in TCs, but not in thymomas. 25482724 2014
CUI: C0040100
Disease: Thymoma
Thymoma 		0.310 Biomarker disease CTD_human A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors. 24974848 2014