Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.150 CausalMutation CLINVAR [Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene]. 17081393

2006

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR [Effects of a novel familial dilated cardiomyopathy associated LMNA gene mutation E82K on cell cycle of HEK293 cells]. 17386158

2007

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 CausalMutation CLINVAR [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. 19253838

2008

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 CausalMutation CLINVAR [A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy]. 16266469

2005

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.130 GeneticVariation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010

Entrez Id: 1829
Gene Symbol: DSG2
DSG2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.120 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010

Entrez Id: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 CausalMutation CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113

2013

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.160 CausalMutation CLINVAR Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. 23861363

2013

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR We investigated the prevalence of lamin A/C (LMNA) gene defects in familial and sporadic dilated cardiomyopathies (DCM) associated with atrioventricular block (AVB) or increased serum creatine-phosphokinase (sCPK), and the corresponding changes in myocardial and protein expression. 11897440

2002

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.500 GeneticVariation CLINVAR Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. 19318026

2009

Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.630 CausalMutation CLINVAR Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 23383212

2013

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.490 GeneticVariation CLINVAR Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families. 23054336

2013

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 CausalMutation CLINVAR Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. 17720647

2007

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.490 GeneticVariation CLINVAR Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. 15556047

2004

Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.190 CausalMutation CLINVAR Two cases of endocardial fibroelastosis--possible x-linked determination. 4685904

1973

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.100 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 GeneticVariation CLINVAR Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 19587455

2009

Entrez Id: 9531
Gene Symbol: BAG3
BAG3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 CausalMutation CLINVAR Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. 24558114

2014

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 GeneticVariation CLINVAR Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747

2002