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: rs267608383
rs267608383
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Here, we report the identification of the mutation p.P405L in a 19-year-old Brazilian male with mental retardation. 18678449 2009