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: rs1554150607
rs1554150607
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C3150700
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		G 0.700 CausalMutation CLINVAR Refining the phenotype associated with MEF2C point mutations. 23001426 2013
dbSNP: rs1554150607
rs1554150607
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C3150700
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		G 0.700 CausalMutation CLINVAR Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. 20513142 2010
dbSNP: rs1554150607
rs1554150607
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C3150700
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		G 0.700 CausalMutation CLINVAR MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 19592390 2010
dbSNP: rs1554150607
rs1554150607
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C3150700
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		G 0.700 CausalMutation CLINVAR Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. 19876902 2009