MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 23; N. variants: 50
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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