DisGeNET - a database of gene-disease associations

Dmd-Associated Dilated Cardiomyopathy, C3668940

Variant: rs398123981 ×

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:

rs398123981

DMD

0.700

CausalMutation

CLINVAR

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

23536893

2013

dbSNP:

rs398123981

DMD

0.700

CausalMutation

CLINVAR

A population-based study of dystrophin mutations in Canada.

21515508

2011

dbSNP:

rs398123981

DMD

0.700

CausalMutation

CLINVAR

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

19937601

2009

dbSNP:

rs398123981

DMD

0.700

CausalMutation

CLINVAR

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.

17041906

2007

dbSNP:

rs398123981

DMD

0.700

CausalMutation

CLINVAR

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

16770791

2006