CREBBP, CREB binding protein, 1387

N. diseases: 438; N. variants: 123
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.320 Biomarker disease BEFREE In urothelial carcinoma (UC), p300 and CBP are often mutated, whereas the GNAT family HATs GCN5 and PCAF (General Control Nonderepressible 5, p300/CBP-Associated Factor) are often upregulated. 28678170 2017
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.320 GeneticVariation disease BEFREE This allowed identifying eight mutations of interest in two patients: FGFR3, PDGFRB, and CREBBP missense single-nucleotide variants (SNVs) in an urothelial carcinoma; FGFR2, FBXW7, TP53, and MLH1 missense SNVs as well as an ATM frameshift mutation in a squamous cell carcinoma of the tongue. 26598538 2016
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.320 Biomarker disease CTD_human Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. 21822268 2011