DisGeNET - a database of gene-disease associations

MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362

Disease: Rett Syndrome ×

Variant: rs28934906 ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.

10991689

2000

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

CLINVAR

Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

20031356

2010

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

CLINVAR

Prenatal diagnosis in Rett syndrome.

12065946

2003

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

UNIPROT

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

11283202

2001

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

UNIPROT

Mutation screening in Rett syndrome patients.

10745042

2000

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

UNIPROT

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

11738883

2001

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length.

19217433

2009

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.

18499664

2008

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

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:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

20031356

2010

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

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

19442733

2009

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

UNIPROT

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

12966522

2003

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

16183801

2006

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

CLINVAR

Chronic osteomyelitis in patients with sickle cell disease.

10944834

2000

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

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

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

10508514

1999

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

21160487

2011

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

11241840

2001

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

UNIPROT

Mutation analysis of the MECP2 gene in patients with Rett syndrome.

12567420

2003

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

11738883

2001

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

UNIPROT

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

11376998

2001

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

16473305

2006

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

GeneticVariation

UNIPROT

MECP2 mutations account for most cases of typical forms of Rett syndrome.

10814719

2000

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0035372
Disease:

Rett Syndrome

0.900

CausalMutation

CLINVAR

Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients.

19309269

2009