Source: INFERRED

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 Parental origin of de novo MECP2 mutations in Rett syndrome. 11313764

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. 11245712

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome]. 18021529

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR People with MECP2 mutation-positive Rett disorder who converse. 16629931

2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. 26936630

2016
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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Molecular diagnostic dilemmas in Rett syndrome. 22277191

2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Reduction of mortality in specific-pathogen-free layer chickens by a caprine serum fraction after infection with Pasteurella multocida. 11055848

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT. 10767337

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR A total of 27 sporadic RTT patients were found to have mutations in the MECP2 gene, but no mutations were identified in our RTT families. 10745042

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. 20116947

2011
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 Abnormal movements in Rett syndrome are present before the regression period: a case study. 17914728

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Rett syndrome and the MECP2 gene. 11283201

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR In all, we identified 45 different MECP2 mutations in 102 of these RTT patients. 17089071

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. 24399845

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Effect of aging on kinetic parameters of 5 alpha-reductase in epithelium and stroma of normal and hyperplastic human prostate. 2460487

1988
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 Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. 27465203

2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Rett syndrome: clinical manifestations in males with MECP2 mutations. 11913564

2002
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 CausalMutation CLINVAR Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation. 20631224

2010