KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Disease: Squamous cell carcinoma of esophagus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.520 CausalMutation disease CGI
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.520 GenomicAlterations disease CGI
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.520 Biomarker disease CTD_human Genetic landscape of esophageal squamous cell carcinoma. 25151357 2014
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.520 GeneticVariation disease BEFREE Moreover, the detection of pathogenic variants, including single nucleotide substitution of TP53 (c.346C>T) and BRCA2 (c.6952C>T) and splicing of KDM6A (c.1194+2T>G), suggest that the development of ESCC in the patient was triggered by impairment of checkpoint and repair for DNA damage and epigenetic modification through accumulation of gene mutations induced by chronic graft-versus-host disease and prolonged administration of tacrolimus. 30499911 2018
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.520 Biomarker disease BEFREE The Prognostic Significance of Histone Demethylase UTX in Esophageal Squamous Cell Carcinoma. 29351209 2018