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
Cytogenetically normal acute myeloid leukemia
0.010 Biomarker disease BEFREE KDM6A expression is heterogeneously regulated and relapse-specific loss of KDM6A was observed in 45.7% of CN-AML patients. 31201358 2020
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE Consistent with an increased transcriptional response to hypoxia in pancreatic adenocarcinomas bearing KDM6A inactivation, we showed that mutation or reduced KDM6A expression in SPNs is associated with increased expression of the HIF1α-regulated protein GLUT1 at both primary and metastatic sites. 30306561 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 AlteredExpression disease BEFREE The expression levels of UTX in the thymus of RA mice were significantly reduced. 31297569 2019
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
0.010 Biomarker disease BEFREE In the present study, we investigated the antitumoral potential of GSK-J4, a small molecule described as an inhibitor of histone demethylases UTX and JMJD3 (KDM6A and KDM6B), alone or in combination with cisplatin in CSs. 31241814 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.010 AlteredExpression disease BEFREE KDM6A, important for germ cell development, has shown to be differentially expressed and methylated in Turner and Klinefelter syndrome across studies. 30811826 2019
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell
0.010 GeneticVariation disease BEFREE Deleterious mutations in KDM6A are found in many cancer types, prominently urothelial carcinoma and certain T-cell leukemias. 30628063 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 Biomarker disease BEFREE Synergistic triad epistasis of epigenetic H3K27me modifier genes, EZH2, KDM6A, and KDM6B, in gastric cancer susceptibility. 30374835 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 Biomarker disease BEFREE This study concisely shows the value of X chromosome gene expression in T cell regulation of autoimmunity and the relevance of Kdm6a in the pathogenesis of EAE as a model of MS. 31403466 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 AlteredExpression group BEFREE We also report that p53S decreased expression of UTX at mRNA and protein level via increasing Xist transcript, result in high female-specific H3K27me3 expression and repressed Mash1 transcription, which facilitating abnormal proliferation, differentiation, and apoptosis, result in the mis-regulation of neurodevelopment and neural tube defects (NTDs). 31523200 2019
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma
0.010 GeneticVariation disease BEFREE This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. 31727177 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 Biomarker disease BEFREE This finding provides a basis for further study of Kdm6a as a new regulator for AMI development. 30887465 2019
Klinefelter's syndrome - male with more than two X chromosomes
0.010 AlteredExpression disease BEFREE KDM6A, important for germ cell development, has shown to be differentially expressed and methylated in Turner and Klinefelter syndrome across studies. 30811826 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 Biomarker disease BEFREE Synergistic triad epistasis of epigenetic H3K27me modifier genes, EZH2, KDM6A, and KDM6B, in gastric cancer susceptibility. 30374835 2019
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
0.010 GeneticVariation disease BEFREE Although genomic analysis have recently discovered the malignant subtype of human pancreatic ductal adenocarcinoma (PDAC) characterized by frequent mutations of histone demethylase KDM6A, the biological and molecular roles still remain obscure. 30556125 2019
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 Biomarker disease BEFREE In conclusion, KDM6A exhibited essential roles in human PDAC as a tumor suppressor and KDM6A deficiency could be a promising biomarker for unfavorable outcome in PDAC patients and a potential surrogate marker for response to HDAC inhibitors. 30556125 2019
Insulin-Like Growth Factor I Deficiency
0.010 GeneticVariation disease BEFREE The pathophysiology of the sensorineural hearing loss in TS is not known, but theories regarding estrogen deficiency, the cell cycle delay hypothesis, IGF-1 deficiency and the possible role of the KDM6A gene are discussed. 30632288 2019
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.010 Biomarker disease BEFREE Our data indicate that UTX does not act in a uniform fashion in UC. 30987376 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE Conversely, inhibition of the Jumonji C domain-containing demethylases Jmjd3 and UTX increased the H3K27me3 content of podocytes and attenuated glomerular disease in adriamycin nephrotoxicity, SNx, and diabetes. 29227285 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE Conversely, inhibition of the Jumonji C domain-containing demethylases Jmjd3 and UTX increased the H3K27me3 content of podocytes and attenuated glomerular disease in adriamycin nephrotoxicity, SNx, and diabetes. 29227285 2018
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.010 Biomarker disease BEFREE Podocytes in glomeruli from humans with focal segmental glomerulosclerosis or diabetic nephropathy exhibited diminished H3K27me3 and heightened UTX content. 29227285 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.010 Biomarker disease BEFREE Systematic genetic interaction studies identify histone demethylase Utx as potential target for ameliorating Huntington's disease. 29281014 2018
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus
0.010 GeneticVariation disease BEFREE In this study, we described a male patient with a novel KDM6A splicing in exon(exon4) and flanking intron(intron3)-exon boundaries characterized by congenital hydrocephalus which had never been reported before. 30509212 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 Biomarker disease BEFREE Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome. 29902804 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 Biomarker group BEFREE Analogous to human disease, inhibition of Jmjd3 and UTX abated nephropathy progression in mice with established glomerular injury and reduced H3K27me3 levels. 29227285 2018
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation disease BEFREE We also identified two genes significantly associated with melanoma metastasis to the regional lymph nodes (PIK3CG and IL2RA), and two genes significantly associated with sex (KDM5C and KDM6A). 29975213 2018