DisGeNET - a database of gene-disease associations

Cardiomyopathy, Dilated, C0007193

Variant: rs267607483 ×

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:

rs267607483

DES

0.700

CausalMutation

CLINVAR

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.

22484823

2013

dbSNP:

rs267607483

DES

0.700

CausalMutation

CLINVAR

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.

22275259

2012

dbSNP:

rs267607483

DES

0.700

CausalMutation

CLINVAR

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

22153487

2012

dbSNP:

rs267607483

DES

0.700

CausalMutation

CLINVAR

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

23155419

2012

dbSNP:

rs267607483

DES

0.700

CausalMutation

CLINVAR

Desmin myopathy.

14724127

2004

dbSNP:

rs267607483

DES

0.700

CausalMutation

CLINVAR

Desmin splice variants causing cardiac and skeletal myopathy.

11073539

2000

dbSNP:

rs267607483

DES

0.700

CausalMutation

CLINVAR

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

10717012

2000