Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.490 GeneticVariation CLINVAR Effects of pathogenic proline mutations on myosin assembly. 22155079

2012

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.490 GeneticVariation CLINVAR Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. 22337857

2012

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.490 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.490 GeneticVariation CLINVAR Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 23054336

2013

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.490 GeneticVariation CLINVAR Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. 26025024

2015

Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.430 GeneticVariation CLINVAR Genetic testing for dilated cardiomyopathy in clinical practice. 22464770

2012

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR Desmin splice variants causing cardiac and skeletal myopathy. 11073539

2000

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455

2009

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 22153487

2012

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. 12620971

2003

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 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

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. 21459883

2011

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR Desmin myopathy. 14724127

2004

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR BAG3 myofibrillar myopathy presenting with cardiomyopathy. 25728519

2015

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 23815709

2013

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR BAG3: a new player in the heart failure paradigm. 25925243

2015

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. 10717012

2000

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 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

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 20696008

2011

Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.370 GeneticVariation CLINVAR

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.200 GeneticVariation CLINVAR Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation. 11106625

2000

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.200 GeneticVariation CLINVAR The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. 20530761

2010

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.200 GeneticVariation CLINVAR Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 20215591

2010

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.200 GeneticVariation CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645

2011

Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.200 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011