DisGeNET - a database of gene-disease associations

MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387

Disease: Muscle hypotonia ×

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:

rs1557136758

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

27354166

2016

dbSNP:

rs1557137745

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

27354166

2016

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

27354166

2016

dbSNP:

rs61748396

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

27354166

2016

dbSNP:

rs61749724

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

27354166

2016

dbSNP:

rs61750240

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

27354166

2016

dbSNP:

rs61750241

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

27354166

2016

dbSNP:

rs61751443

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

27354166

2016

dbSNP:

rs1557136758

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

24399845

2014

dbSNP:

rs1557136758

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

MECP2 duplication: possible cause of severe phenotype in females.

24458799

2014

dbSNP:

rs1557137745

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

24399845

2014

dbSNP:

rs1557137745

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

MECP2 duplication: possible cause of severe phenotype in females.

24458799

2014

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

MECP2 duplication: possible cause of severe phenotype in females.

24458799

2014

dbSNP:

rs28934906

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

24399845

2014

dbSNP:

rs61748396

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

MECP2 duplication: possible cause of severe phenotype in females.

24458799

2014

dbSNP:

rs61748396

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

24399845

2014

dbSNP:

rs61749724

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

24399845

2014

dbSNP:

rs61749724

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

MECP2 duplication: possible cause of severe phenotype in females.

24458799

2014

dbSNP:

rs61750240

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

24399845

2014

dbSNP:

rs61750240

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

MECP2 duplication: possible cause of severe phenotype in females.

24458799

2014

dbSNP:

rs61750241

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

MECP2 duplication: possible cause of severe phenotype in females.

24458799

2014

dbSNP:

rs61750241

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

24399845

2014

dbSNP:

rs61751443

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

24399845

2014

dbSNP:

rs61751443

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

MECP2 duplication: possible cause of severe phenotype in females.

24458799

2014

dbSNP:

rs1557136758

Entrez Id:	4204
Gene Symbol:	MECP2

MECP2

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Using a large international sample to investigate epilepsy in Rett syndrome.

23421866

2013