MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Disease: Autism Spectrum Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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