Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10529
Gene Symbol: NEBL
NEBL
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GeneticVariation ORPHANET Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies. 27186169

2016
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.640 GermlineCausalMutation ORPHANET Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 11788824

2002
Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.450 GermlineCausalMutation ORPHANET Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 GermlineCausalMutation ORPHANET Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004
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: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 GermlineCausalMutation ORPHANET Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. 11684629

2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 GermlineCausalMutation ORPHANET SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 15466643

2004
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: 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: 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: 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: 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: 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: 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: 6444
Gene Symbol: SGCD
SGCD
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.320 GermlineCausalMutation ORPHANET Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. 10974018

2000
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.320 GermlineCausalMutation ORPHANET Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. 11273725

2001
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: 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: 8557
Gene Symbol: TCAP
TCAP
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. 15582318

2004
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: 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: 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: 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: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461

2006