Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004

Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.310 GermlineCausalMutation ORPHANET Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 9563954

1998

Entrez Id: 88
Gene Symbol: ACTN2
ACTN2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. 14567970

2004

Entrez Id: 88
Gene Symbol: ACTN2
ACTN2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. 25224718

2014

Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. 19525294

2009

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.430 GermlineCausalMutation ORPHANET 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: 10486
Gene Symbol: CAP2
CAP2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy. 30518548

2019

Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Alpha B-crystallin mutation in dilated cardiomyopathy. 16483541

2006

Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands. 16793013

2006

Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. 14567970

2004

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.330 GermlineCausalMutation ORPHANET Desmin mutation responsible for idiopathic dilated cardiomyopathy. 10430757

1999

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.340 GermlineCausalMutation ORPHANET Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. 14567970

2004

Entrez Id: 22845
Gene Symbol: DOLK
DOLK
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. 22242004

2011

Entrez Id: 1829
Gene Symbol: DSG2
DSG2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET To test whether perturbations of DSG2 or DSC2 exhibit a pathogenic impact on DCM pathogenesis, we sequenced both genes in 73 patients with FDCM and assessed prevalence of missense variations in matched control cohorts. 18678517

2008

Entrez Id: 2274
Gene Symbol: FHL2
FHL2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy. 17416352

2007

Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. 17036286

2006

Entrez Id: 57798
Gene Symbol: GATAD1
GATAD1
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. 21965549

2011

Entrez Id: 3910
Gene Symbol: LAMA4
LAMA4
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. 17646580

2007

Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 14660611

2004

Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 14662268

2003

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.400 GermlineCausalMutation ORPHANET 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: 4624
Gene Symbol: MYH6
MYH6
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.400 GermlineCausalMutation ORPHANET Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. 15998695

2005

Entrez Id: 4624
Gene Symbol: MYH6
MYH6
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.400 GermlineCausalMutation ORPHANET 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: 4625
Gene Symbol: MYH7
MYH7
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.410 GermlineCausalMutation ORPHANET Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. 11106718

2000

Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. 22892539

2013