KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
0.360 GeneticVariation disease BEFREE This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the KMT2A gene. 31710778 2020
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
0.360 GeneticVariation disease BEFREE We diagnosed a Chinese boy who presented postnatal growth retardation with WSS caused by a novel de novo mutation in KMT2A. 31250358 2019
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
0.360 PosttranslationalModification disease BEFREE As KMT2A is known to regulate the expression of multiple target genes through methylation of lysine 4 of histone 3 (H3K4me), we sought to investigate the transcriptomic consequences of KMT2A variants involved in WSS. 30014449 2018
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
0.360 Biomarker disease BEFREE Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. 29574747 2018
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
0.360 GeneticVariation disease BEFREE WSS is caused by heterozygous mutations in KMT2A (also known as MLL), a gene encoding a histone methyltransferase. 25810209 2016
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
0.360 GeneticVariation disease BEFREE This report expands the phenotypic spectrum of the clinical phenotypes and KMT2A variants associated with WSS. 24886118 2014
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome
0.360 Biomarker disease GENOMICS_ENGLAND