DisGeNET - a database of gene-disease associations

Dmd-Associated Dilated Cardiomyopathy, C3668940

Variant: rs398123929 ×

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:

rs398123929

DMD

0.700

CausalMutation

CLINVAR

A population-based study of dystrophin mutations in Canada.

21515508

2011

dbSNP:

rs398123929

DMD

0.700

CausalMutation

CLINVAR

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.

19409785

2009

dbSNP:

rs398123929

DMD

0.700

CausalMutation

CLINVAR

Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.

18652600

2008

dbSNP:

rs398123929

DMD

0.700

CausalMutation

CLINVAR

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

11710958

2001