KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 10; N. variants: 9
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225275
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 		0.300 Biomarker disease GENOMICS_ENGLAND Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. 31079897 2019