MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Mental Retardation, X-Linked 79 ×
Source: ALL
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: C1968551
Disease:
Mental Retardation, X-Linked 79 		0.010 GeneticVariation BEFREE We mapped a new non-syndromic X-linked family (MRX79) to the chromosomal region Xq27.3-Xq28 and identified an A140V mutation in the MEPC2 gene in all patients with the disease haplotype. 12325019 2002