Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. 16183801

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Clinical profile of a male with Rett syndrome. 16182490

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Only females with Rett syndrome and an identified MECP2 mutation were included. 16077729

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 15737703

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms. 15737703

2005
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. 15173251

2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations. 15057977

2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations. 15057977

2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. 15526954

2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. 15557528

2004
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation. 12966523

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. 12746405

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. 14598336

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Identification of MeCP2 mutations in a series of females with autistic disorder. 12770674

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. 12872250

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. 12872251

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? 12746406

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. 14536082

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR A Rett syndrome MECP2 mutation that causes mental retardation in men. 11805248

2002
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. 12325033

2002
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Spectrum of MECP2 mutations in Rett syndrome. 12180070

2002
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Spectrum of MECP2 mutations in Rett syndrome. 12180070

2002