MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE Of these genes, point mutations in MEF2C cause a phenotype involving seizures and intellectual disability. 29266188 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.120 CausalMutation phenotype CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE In case 4, a de novo approximately 5.7 Mb deletion of MEF2C and five other genes was found in a child with truncal hypotonia, intractable seizures, profound developmental delay, and shortening of the corpus callosum on brain MRI. 20333642 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO