DisGeNET - a database of gene-disease associations

Dmd-Associated Dilated Cardiomyopathy, C3668940

Variant: rs863224995 ×

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:

rs863224995

DMD

0.700

CausalMutation

CLINVAR

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

21972111

2011

dbSNP:

rs863224995

DMD

0.700

CausalMutation

CLINVAR

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

20485447

2010

dbSNP:

rs863224995

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:

rs863224995

DMD

0.700

CausalMutation

CLINVAR

Rapid direct sequence analysis of the dystrophin gene.

12632325

2003