×
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
×
Entrez Id:
8557
Gene Symbol:
TCAP
TCAP
Familial dilated cardiomyopathy
0.300
GermlineCausalMutation
ORPHANET
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
15582318
2004
×
Entrez Id:
8048
Gene Symbol:
CSRP3
CSRP3
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
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:
10060
Gene Symbol:
ABCC9
ABCC9
Familial dilated cardiomyopathy
0.300
GermlineCausalMutation
ORPHANET
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
15034580
2004
×
Entrez Id:
7134
Gene Symbol:
TNNC1
TNNC1
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:
7137
Gene Symbol:
TNNI3
TNNI3
Familial dilated cardiomyopathy
0.300
GermlineCausalMutation
ORPHANET
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.
15070570
2004
×
Entrez Id:
88
Gene Symbol:
ACTN2
ACTN2
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