Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.030 GeneticVariation BEFREE Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. 29322350

2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.030 GeneticVariation BEFREE The MEF2C mutant rate was 4.5% (5/112) in total, and 6.8% (3/44) in the RTT (-like) cohort. 30376817

2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.030 GeneticVariation BEFREE More recently, it has been suggested that phenotypes associated with TCF4 and MEF2C mutations may represent a form of RTT. 22383159

2012