MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Rett Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. 28348241 2017
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. 17296936 2007
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. 12966522 2003
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in patients with Rett syndrome. 12567420 2003
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. 12966523 2003
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. 11376998 2001
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. 11283202 2001
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 11269512 2001
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT MeCP2 mutations in children with and without the phenotype of Rett syndrome. 11402105 2001
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. 11738883 2001
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. 11706982 2001
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. 10944854 2000
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation BEFREE 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
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. 11055898 2000
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT MECP2 mutations account for most cases of typical forms of Rett syndrome. 10814719 2000
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Mutation screening in Rett syndrome patients. 10745042 2000
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688 2000
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. 10767337 2000
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. 10991689 2000
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation UNIPROT Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. 10508514 1999
dbSNP: rs28934905
rs28934905
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		G 0.810 CausalMutation CLINVAR