DisGeNET - a database of gene-disease associations

MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387

Disease: Mental Retardation, X-Linked, Syndromic 13 ×

Source: ALL

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:

rs28934908

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

17296936

2007

dbSNP:

rs61748392

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

17296936

2007

dbSNP:

rs61749715

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

17296936

2007

dbSNP:

rs61751449

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

17296936

2007

dbSNP:

rs28934908

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

16966553

2006

dbSNP:

rs61748392

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

16966553

2006

dbSNP:

rs61749715

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

16966553

2006

dbSNP:

rs61751449

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

16966553

2006

dbSNP:

rs28934908

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

12615169

2003

dbSNP:

rs61748392

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

12615169

2003

dbSNP:

rs61749715

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

12615169

2003

dbSNP:

rs61751449

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

12615169

2003

dbSNP:

rs28934908

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

11885030

2002

dbSNP:

rs28934908

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

12325019

2002

dbSNP:

rs28934908

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A Rett syndrome MECP2 mutation that causes mental retardation in men.

11805248

2002

dbSNP:

rs28934908

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

12161600

2002

dbSNP:

rs61748392

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

12325019

2002

dbSNP:

rs61748392

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A Rett syndrome MECP2 mutation that causes mental retardation in men.

11805248

2002

dbSNP:

rs61748392

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

11885030

2002

dbSNP:

rs61748392

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

12161600

2002

dbSNP:

rs61749715

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

11885030

2002

dbSNP:

rs61749715

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

12325019

2002

dbSNP:

rs61749715

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A Rett syndrome MECP2 mutation that causes mental retardation in men.

11805248

2002

dbSNP:

rs61749715

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

12161600

2002

dbSNP:

rs61751449

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C1968550
Disease:

Mental Retardation, X-Linked, Syndromic 13

0.800

GeneticVariation

UNIPROT

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

11885030

2002