DisGeNET - a database of gene-disease associations

Dmd-Associated Dilated Cardiomyopathy, C3668940

Variant: rs398123953 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs398123953

DMD

0.700

CausalMutation

CLINVAR

Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.

27593222

2017

dbSNP:

rs398123953

DMD

0.700

CausalMutation

CLINVAR

MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

23453023

2013

dbSNP:

rs398123953

DMD

0.700

CausalMutation

CLINVAR

A population-based study of dystrophin mutations in Canada.

21515508

2011

dbSNP:

rs398123953

DMD

0.700

CausalMutation

CLINVAR

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

16834926

2006

dbSNP:

rs398123953

DMD

0.700

CausalMutation

CLINVAR

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis.

9067763

1997

dbSNP:

rs398123953

DMD

0.700

CausalMutation

CLINVAR

Spectrum of small mutations in the dystrophin coding region.

7611292

1995