Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 GeneticVariation disease BEFREE Severe intellectual disability with inability to speak and epilepsy are universal features in patients with MEF2C mutations, although mild cognitive and speech disorders have been reported to occur in patients with duplications. 27255693 2016
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 GeneticVariation disease BEFREE Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature. 25691421 2015
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 GeneticVariation disease BEFREE 5q14.3 deletions spanning and flanking MEF2C as well as intragenic MEF2C mutations have recently been described as a cause of severe intellectual disability, epilepsy, and muscular hypotonia, with variable brain and other anomalies. 23824879 2013
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 Biomarker disease BEFREE The purpose of this work was to clarify criteria for the selection of patients with severe intellectual disability to screen for deficiency in the MEF2C gene. 23001426 2013
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 CausalMutation disease CLINVAR Refining the phenotype associated with MEF2C point mutations. 23001426 2013
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 AlteredExpression disease BEFREE We speculate that the translocation may disrupt the proper regulation of MEF2C expression in the developing brain, resulting in severe intellectual disability and early-onset epileptic encephalopathy. 21990267 2011
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 CausalMutation disease 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
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 GeneticVariation disease BEFREE We therefore performed mutational analysis in 362 patients with severe mental retardation and found two truncating and two missense de novo mutations in MEF2C, establishing defects in this transcription factor as a novel relatively frequent autosomal dominant cause of severe mental retardation accounting for as much as 1.1% of patients. 20513142 2010
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 Biomarker disease BEFREE These deletions further support that haploinsufficiency of MEF2C is responsible for severe mental retardation, seizures, and hypotonia. 20333642 2010
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 CausalMutation disease 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
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 Biomarker disease BEFREE Taken together, these results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations. 19592390 2010
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 CausalMutation disease 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
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.180 Biomarker disease HPO