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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker disease BEFREE Mef2c haploinsufficiency is implicated in behavioral deficits related to autism, schizophrenia, and intellectual disability. 30276662 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker disease BEFREE NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism. 29133852 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker disease CTD_human Autistic phenotype from MEF2C knockout cells. 19131610 2009