MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Mental Retardation, X-Linked, Syndromic 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751444
rs61751444
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1968550
Disease:
Mental Retardation, X-Linked, Syndromic 13 		A 0.700 CausalMutation CLINVAR MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). 23810759 2013
dbSNP: rs61751444
rs61751444
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1968550
Disease:
Mental Retardation, X-Linked, Syndromic 13 		A 0.700 CausalMutation CLINVAR Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. 20479760 2011
dbSNP: rs61751444
rs61751444
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1968550
Disease:
Mental Retardation, X-Linked, Syndromic 13 		A 0.700 CausalMutation CLINVAR Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. 17084570 2007