×
Entrez Id:
10486
Gene Symbol:
CAP2
CAP2
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
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
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
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
Familial dilated cardiomyopathy
0.300
GermlineCausalMutation
ORPHANET
RAF1 mutations in childhood-onset dilated cardiomyopathy.
24777450
2014
×
Entrez Id:
88
Gene Symbol:
ACTN2
ACTN2
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Familial dilated cardiomyopathy
0.300
GermlineCausalMutation
ORPHANET
Alpha B-crystallin mutation in dilated cardiomyopathy.
16483541
2006
×
Entrez Id:
5664
Gene Symbol:
PSEN2
PSEN2
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
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
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
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