rs28934907, MECP2

N. diseases: 30
Disease: Rett Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 GeneticVariation UNIPROT MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719 2000
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042 2000
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 GeneticVariation CLINVAR Three of these mutations (R106W, R133C, and F155S) have their binding affinities for methylated DNA reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated DNA of mutant MeCP2 contributes to Rett syndrome. 10852707 2000
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 CausalMutation CLINVAR Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898 2000
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854 2000
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 GeneticVariation UNIPROT Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688 2000
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 CausalMutation CLINVAR Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. 10577905 1999
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 GeneticVariation UNIPROT Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
0.840 GeneticVariation CLINVAR Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999