Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 7112
Gene Symbol: TMPO
TMPO
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.310 GermlineCausalMutation ORPHANET A total of 113 subjects from 88 families (56 with familial DCM (FDC) and 32 with sporadic DCM) were screened for LAP2 mutations using denaturing high-performance liquid chromatography and sequence analysis. 16247757

2005
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: 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: 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: 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: 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: 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: 8557
Gene Symbol: TCAP
TCAP
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 19412328

2008
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 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: 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: 5350
Gene Symbol: PLN
PLN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.330 GermlineCausalMutation ORPHANET Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310

2003
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: 6389
Gene Symbol: SDHA
SDHA
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. 20551992

2010
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. 23768516

2013
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: 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: 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: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. 19590045

2009
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: 7414
Gene Symbol: VCL
VCL
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Metavinculin mutations alter actin interaction in dilated cardiomyopathy. 11815424

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 GermlineCausalMutation ORPHANET Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342

2012
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