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: rs876661308
rs876661308
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C3150700
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		A 0.700 CausalMutation CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693 2016