MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045053
rs797045053
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C3150700
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		C 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016