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 GeneticVariation CLINVAR Cross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary academic outpatient specialty clinics and who had complete MECP2 mutation analysis. 18337588

2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome. 10944854

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Characterization of the MeCP2R168X knockin mouse model for Rett syndrome. 25541993

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation 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 We review the literature on MECP2 mutations in Rett syndrome. 11269512

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation 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 GeneticVariation CLINVAR Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. 10852707

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. 17387578

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. 24508304

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Spectrum of MECP2 mutations in New Zealand Rett syndrome patients. 19652677

2009
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 Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. 19442733

2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. 24626160

2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation 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 The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)]. 11402105

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. 11331619

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum. 10577905

1999
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR DHPLC analysis of the MECP2 gene in Italian Rett patients. 11462237

2001
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Large MECP2 rearrangements cause Rett syndrome in a significant number of girls without 'classic' mutations in this gene. 17986102

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494

2013
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 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro. 20093853

2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation CLINVAR Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. 10805343

2000
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		1.000 GeneticVariation 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 GeneticVariation CLINVAR Clinical profile of a male with Rett syndrome. 16182490

2005