Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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: 10587
Gene Symbol: TXNRD2
TXNRD2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy. 21247928

2011
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: 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: 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: 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: 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: 91624
Gene Symbol: NEXN
NEXN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 19881492

2009
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: 84665
Gene Symbol: MYPN
MYPN
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. 18006477

2008
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: 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: 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: 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: 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
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
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
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: 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