DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Cardiomyopathy, Dilated ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs727504379

ACTC1 ; LOC101928174

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

25201647

2014

dbSNP:

rs397517071

ACTC1 ; LOC101928174

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs397517065

ACTC1 ; LOC101928174

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727502886

ACTN2

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

20022194

2010

dbSNP:

rs140614802

ADSS1 ; LOC107984670

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

dbSNP:

rs867410737

ATP5F1D

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

29478781

2018

dbSNP:

rs397516881

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.710

CausalMutation

CLINVAR

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

21459883

2011

dbSNP:

rs397516881

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.710

CausalMutation

CLINVAR

Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.

28737513

2017

dbSNP:

rs397516881

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.710

CausalMutation

CLINVAR

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

22337857

2012

dbSNP:

rs397516881

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.710

CausalMutation

CLINVAR

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

25008357

2014

dbSNP:

rs876657634

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869248137

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

25008357

2014

dbSNP:

rs869248137

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.

25448463

2014

dbSNP:

rs869248137

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.

24558114

2014

dbSNP:

rs869248137

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

21459883

2011

dbSNP:

rs869025365

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730880055

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505283

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505109

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

21459883

2011

dbSNP:

rs727505109

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

21353195

2011

dbSNP:

rs727502897

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs387906875

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

21353195

2011

dbSNP:

rs387906875

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.

21459883

2011

dbSNP:

rs387906875

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

BAG3 myofibrillar myopathy presenting with cardiomyopathy.

25728519

2015

dbSNP:

rs1564773559

BAG3

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

CCTGTGTA

0.700

CausalMutation

CLINVAR