MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693 2016
dbSNP: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. 23389741 2013
dbSNP: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects. 22498567 2012
dbSNP: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome. 22670137 2012
dbSNP: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012
dbSNP: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		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: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		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: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. 19471318 2009
dbSNP: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells. 18579729 2008
dbSNP: rs397514655
rs397514655
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR MEF2: a central regulator of diverse developmental programs. 17959722 2007