Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004

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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 79717
Gene Symbol: PPCS
PPCS
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. 29754768

2018

Entrez Id: 9015
Gene Symbol: TAF1A
TAF1A
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy. 28472305

2017

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: 5894
Gene Symbol: RAF1
RAF1
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.300 GermlineCausalMutation ORPHANET RAF1 mutations in childhood-onset dilated cardiomyopathy. 24777450

2014

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: 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