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: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Kabuki syndrome (KS) is a disorder of epigenetic dysregulation due to heterozygous mutations in KMT2D or KDM6A, genes encoding a lysine-specific methyltransferase or demethylase, respectively. 31654559 2020
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Molecular diagnoses of KS were established by identification of pathogenic variants in KMT2D (n = 5) and KDM6A (n = 4). 29907798 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 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: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Kabuki (Niikawa-Kuroki) syndrome (KS) is caused by disease-causing variants in either of two components (KMT2D and KDM6A) of the histone methylation machinery. 30767315 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrome. 30497982 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Most KS patients possess two genetic subtypes: KMT2D-associated, autosomal-dominant KS type 1 (KS1; OMIM 147920); and KDM6A-associated, X-linked-dominant KS type 2. 30556359 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A). 31587141 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE KDM6A is mutated in the human condition Kabuki syndrome type 2 (OMIM 300867) and in many cases of cancer. 31097364 2019
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 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: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Mutations in KMT2D and KDM6A have been proven to be the primary cause in most cases of KS. 29482518 2018
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 Biomarker disease BEFREE The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A. 29536651 2018
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Here, we review all currently available literature describing KS-like phenotypes (or phenocopies) associated with genetic variants located in loci different from KMT2D and KDM6A . 28139835 2018
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Kabuki syndrome is mainly caused by dominant de-novo pathogenic variants in the KMT2D and KDM6A genes. 29307790 2018
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 AlteredExpression disease BEFREE Despite more than 350 documented cases, the oro-dental spectrum associated with kabuki syndrome and expression of <i>KMT2D</i> (histone-lysine N-methyltransferase 2D) or <i>KDM6A</i> (lysine-specific demethylase 6A) genes in tooth development have not been well defined. 29725259 2018
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Based on genetic and clinical features, suggest that the c.335-1G > T splicing mutation in KDM6A causing KS-2 disease. 30509212 2018
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 Biomarker disease BEFREE Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in <i>KMT2D/MLL2</i> and <i>KDM6A/UTX</i>, two interacting chromatin modifier responsible respectively for 56-75% and 5-8% of the cases. 29283410 2017
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 Biomarker disease BEFREE The same was true for both gene mutation KMT2D versus KDM6A and for GH deficiency versus non-GH deficiency KS children (p < 0.05). 28793284 2017
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Kabuki syndrome is a Mendelian intellectual disability syndrome caused by mutations in either of two genes (KMT2D and KDM6A) involved in chromatin accessibility. 27999180 2017
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retardation. 29073101 2017
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Additionally, owing to the heterogeneous nature of Kabuki syndrome, a smaller number of diagnosed patients have been identified with mutations or deletions in KDM6A (a component of the same transcriptional complex as KMT2D) with no mutations in KMT2D, or as those diagnosed with Kabuki syndrome and without alterations in either KMT2D or KDM6A. 27568880 2016
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Exonic deletions, disrupting the lysine (K)-specific demethylase 6A (KDM6A) gene have been demonstrated as rare cause of KS. 27028180 2016
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. 27302555 2016
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. 26841933 2016
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE We demonstrate that less than 5% cases of Kabuki syndrome are due to KDM6A mutations. 24527667 2015
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
0.800 GeneticVariation disease BEFREE We analyzed 40 individuals clinically diagnosed with KS for mutations in KMT2D and KDM6A. 25972376 2015