×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
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
Familial dilated cardiomyopathy
0.450
GermlineCausalMutation
ORPHANET
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.
19712804
2009
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
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:
9531
Gene Symbol:
BAG3
BAG3
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
Familial dilated cardiomyopathy
0.430
GermlineCausalMutation
ORPHANET
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
11684629
2001
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Familial dilated cardiomyopathy
0.430
GermlineCausalMutation
ORPHANET
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
15466643
2004
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Familial dilated cardiomyopathy
0.430
GermlineCausalMutation
ORPHANET
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
22766342
2012
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
Familial dilated cardiomyopathy
0.410
GermlineCausalMutation
ORPHANET
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
11106718
2000
×
Entrez Id:
4624
Gene Symbol:
MYH6
MYH6
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:
4607
Gene Symbol:
MYBPC3
MYBPC3
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
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:
1756
Gene Symbol:
DMD
DMD
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
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
Familial dilated cardiomyopathy
0.330
GermlineCausalMutation
ORPHANET
Desmin mutation responsible for idiopathic dilated cardiomyopathy.
10430757
1999
×
Entrez Id:
6444
Gene Symbol:
SGCD
SGCD
Familial dilated cardiomyopathy
0.320
GermlineCausalMutation
ORPHANET
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.
10974018
2000
×
Entrez Id:
7168
Gene Symbol:
TPM1
TPM1
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:
70
Gene Symbol:
ACTC1
ACTC1
Familial dilated cardiomyopathy
0.310
GermlineCausalMutation
ORPHANET
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.
9563954
1998
×
Entrez Id:
7112
Gene Symbol:
TMPO
TMPO
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:
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:
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:
1410
Gene Symbol:
CRYAB
CRYAB
Familial dilated cardiomyopathy
0.300
GermlineCausalMutation
ORPHANET
Alpha B-crystallin mutation in dilated cardiomyopathy.
16483541
2006
×
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:
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:
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:
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