MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 CausalMutation disease CLINVAR MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review. 27255693 2016
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 CausalMutation disease CLINVAR Refining the phenotype associated with MEF2C point mutations. 23001426 2013
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 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
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 Biomarker disease GENOMICS_ENGLAND 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
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 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
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 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
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 Biomarker disease CTD_human
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.500 Biomarker disease RGD It was demonstrated that MEF2C is up-regulated during development (P0, P3, P7, P14 and P28) and in the adult rat dentate gyrus following SE (3, 7, 14, 28 days after SE). 18949272 2008
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.500 Biomarker disease CTD_human It was demonstrated that MEF2C is up-regulated during development (P0, P3, P7, P14 and P28) and in the adult rat dentate gyrus following SE (3, 7, 14, 28 days after SE). 18949272 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.410 CausalMutation disease CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.410 Biomarker disease BEFREE Transcription factor MEF2C regulates multiple genes linked to autism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy. 29133852 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.410 Biomarker disease CTD_human Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene. 20412115 2010
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.400 Biomarker phenotype CTD_human Refining the phenotype associated with MEF2C haploinsufficiency. 20412115 2010
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.400 Biomarker phenotype HPO
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 Biomarker disease BEFREE We aimed to delineate the spectrum of electroclinical manifestations of MEF2C-related epilepsy from an illustrative case and literature review. 30922778 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.370 AlteredExpression group BEFREE Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report. 31375103 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.370 Biomarker group BEFREE Mef2c haploinsufficiency is implicated in behavioral deficits related to autism, schizophrenia, and intellectual disability. 30276662 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE The latter is a shift from current thinking, as MEF2C haploinsufficiency has been considered the main cause of epilepsy in 5q14.3 deletion syndrome. 29266188 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE The microRNAs target a group of genes enriched for synaptic signaling and epilepsy risk, including SLC12A5, SYT1, GRIN2A, GRIN2B, KCNB1, SCN2A, TSC1, and MEF2C. 28993242 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.370 GeneticVariation group BEFREE Of these genes, point mutations in MEF2C cause a phenotype involving seizures and intellectual disability. 29266188 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.370 GeneticVariation group BEFREE Overall, the MEF2C gene mutational analysis should be performed in ID cohort, especially in patients with features overlapped with RTT. 30376817 2018