MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Disease: Rett Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. 23696494 2013
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356 2010
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. 15526954 2004
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases. 15173251 2004
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Identification of MeCP2 mutations in a series of females with autistic disorder. 12770674 2003
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Spectrum of MECP2 mutations in Rett syndrome. 12180070 2002
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR DHPLC analysis of the MECP2 gene in Italian Rett patients. 11462237 2001
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. 11245712 2001
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. 11214906 2001
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation. 11524741 2001
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718 2000
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854 2000
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688 2000
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Functional consequences of Rett syndrome mutations on human MeCP2. 11058114 2000
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719 2000
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337 2000
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 CausalMutation CLINVAR [Comparative and experimental studies on various prosthesis cleaners. 1. Testing of mechanical cleans power and the action on prosthesis materials]. 1105898 1975
dbSNP: rs61751362
rs61751362
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		A 0.730 GeneticVariation CLINVAR