DisGeNET - a database of gene-disease associations

Dmd-Associated Dilated Cardiomyopathy, C3668940

Variant: rs128627256 ×

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:

rs128627256

DMD

0.700

CausalMutation

CLINVAR

A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

25612904

2015

dbSNP:

rs128627256

DMD

0.700

CausalMutation

CLINVAR

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMDBMD: a multi-population diagnostic study.

23756440

2014

dbSNP:

rs128627256

DMD

0.700

CausalMutation

CLINVAR

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

23536893

2013

dbSNP:

rs128627256

DMD

0.700

CausalMutation

CLINVAR

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

24349052

2013

dbSNP:

rs128627256

DMD

0.700

CausalMutation

CLINVAR

Somatic mosaicism for Duchenne dystrophy: evidence for genetic normalization mitigating muscle symptoms.

19530190

2009

dbSNP:

rs128627256

DMD

0.700

CausalMutation

CLINVAR

Spectrum of small mutations in the dystrophin coding region.

7611292

1995