MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751367
rs61751367
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 26936630 2016