KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.360 AlteredExpression disease BEFREE To investigate expression patterns of UTX and JMJD3 genes in renal cell carcinoma (RCC) and bladder cancer and the relationship between gene expression and tumor development. 27983522 2017
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.360 AlteredExpression disease BEFREE Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2. 28228601 2017
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.360 GeneticVariation disease BEFREE DNA was extracted from urine cell pellets and PCR used to amplify the regions of the TERT promoter and coding regions of FGFR3, PIK3CA, TP53, HRAS, KDM6A and RXRA which are frequently mutated in bladder cancer. 26901314 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.360 Biomarker disease BEFREE Target sequencing and CRISPR/Cas editing reveal simultaneous loss of UTX and UTY in urothelial bladder cancer. 27533081 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.360 Biomarker disease BEFREE Our objective is to characterize alterations observed by exome sequencing and sequencing of the TERT promoter, and to examine the functional relevance of histone lysine (K)-specific demethylase 6A (KDM6A/UTX), a frequently mutated histone demethylase, in bladder cancer. 25225064 2014
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.360 Biomarker disease BEFREE Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. 21822268 2011
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.360 GenomicAlterations disease CGI
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.360 CausalMutation disease CGI