MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Disease: Pervasive Development Disorder ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934908
rs28934908
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0524528
Disease:
Pervasive Development Disorder 		0.010 GeneticVariation BEFREE The 8 hotspot mutations and the A140V mutation were also studied in 4 cohorts of Chinese children (n = 144) actively followed up in our university neurodevelopmental center with classic Rett syndrome (n = 5), autism spectrum disorder (n = 94), epileptic encephalopathy of unknown cause (n = 22), and nonsyndromal mental retardation (n = 23). 18174559 2007