DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Rett Syndrome ×

Variant: rs61748390 ×

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:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

17089071

2007

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

17387578

2007

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.

15737703

2005

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

Clinical profile of a male with Rett syndrome.

16182490

2005

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

11269512

2001

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

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

11738883

2001

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

10814718

2000

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.

10991688

2000

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

GeneticVariation

CLINVAR

Effect of aging on kinetic parameters of 5 alpha-reductase in epithelium and stroma of normal and hyperplastic human prostate.

2460487

1988

dbSNP:

rs61748390

MECP2

CUI:	C0035372
Disease:	Rett Syndrome

Rett Syndrome

0.810

CausalMutation

CLINVAR