Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. 7616547

1995
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. 9382096

1997
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. 15070570

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 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288

2004
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: 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: 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: 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