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: rs61748404
rs61748404
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: rs61748404
rs61748404
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		C 0.810 CausalMutation CLINVAR From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. 27929079 2016
dbSNP: rs61748404
rs61748404
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: rs61748404
rs61748404
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		0.810 GeneticVariation BEFREE This case broadens the genotype-phenotype correlation between the P152R mutation 2MECP2-associated Rett syndrome. 23859859 2013
dbSNP: rs61748404
rs61748404
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		C 0.810 CausalMutation CLINVAR We show that a gradient of impairment is present when the p.P152A mutation is compared with an allelic p.P152R mutation, which causes classic Rett syndrome and another Rett syndrome-causing mutation, such that protein-heterochromatin binding observed by immunofluorescence and immunoblotting is wild-type > P152A > P152R > T158 M, consistent with the severity of the observed phenotype. 18989701 2009
dbSNP: rs61748404
rs61748404
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		C 0.810 CausalMutation CLINVAR Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. 18842453 2008
dbSNP: rs61748404
rs61748404
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: rs61748404
rs61748404
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		C 0.810 CausalMutation CLINVAR Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. 16473305 2006
dbSNP: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		C 0.810 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: rs61748404
rs61748404
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		C 0.810 CausalMutation CLINVAR Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. 10814718 2000
dbSNP: rs61748404
rs61748404
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: rs61748404
rs61748404
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: rs61748404
rs61748404
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0035372
Disease:
Rett Syndrome 		C 0.810 CausalMutation CLINVAR Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. 10991688 2000
dbSNP: rs61748404
rs61748404
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