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:

rs150974575

DES

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Desmin splice variants causing cardiac and skeletal myopathy.

11073539

2000

dbSNP:

rs150974575

DES

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

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

10717012

2000

dbSNP:

rs150974575

DES

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Desmin myopathy.

14724127

2004

dbSNP:

rs150974575

DES

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

23815709

2013

dbSNP:

rs150974575

DES

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

12620971

2003

dbSNP:

rs150974575

DES

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy.

19716701

2009

dbSNP:

rs150974575

DES

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

19587455

2009

dbSNP:

rs150974575

DES

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

20696008

2011

dbSNP:

rs1557315928

DMD

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

dbSNP:

rs727504327

DNASE1L1 ; TAZ

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Barth syndrome mutations that cause tafazzin complex lability.

21300850

2011

dbSNP:

rs727504327

DNASE1L1 ; TAZ

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

11238270

2001

dbSNP:

rs758537946

DSG2

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced.

23889974

2013

dbSNP:

rs758537946

DSG2

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.

21606396

2011

dbSNP:

rs397516706

DSG2 ; DSG2-AS1

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

20864495

2010

dbSNP:

rs397516706

DSG2 ; DSG2-AS1

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.

23381804

2013

dbSNP:

rs397516706

DSG2 ; DSG2-AS1

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

CausalMutation

CLINVAR

Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.

21397041

2011

dbSNP:

rs879255521

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869025399

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs869025398

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs794728136

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs730880093

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727505115

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

20716751

2010

dbSNP:

rs727505077

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727504738

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

AGCTCGAGTCCCTCG

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727504498

DSP

CUI:	C0007193
Disease:	Cardiomyopathy, Dilated

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR