Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.900 Biomarker GENOMICS_ENGLAND A 'second truncation' in TTN causes early onset recessive muscular dystrophy. 28716623

2017

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 Biomarker GENOMICS_ENGLAND Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. 28069705

2017

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 Biomarker GENOMICS_ENGLAND SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia. 24317018

2014

Entrez Id: 7112
Gene Symbol: TMPO
TMPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.610 Biomarker GENOMICS_ENGLAND Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. 16247757

2005

Entrez Id: 4878
Gene Symbol: NPPA
NPPA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.520 Biomarker GENOMICS_ENGLAND Autosomal recessive atrial dilated cardiomyopathy with standstill evolution associated with mutation of Natriuretic Peptide Precursor A. 23275345

2013

Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.420 Biomarker GENOMICS_ENGLAND ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. 24439875

2014

Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 Biomarker GENOMICS_ENGLAND Nemaline myopathy with dilated cardiomyopathy in childhood. 23650303

2013

Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 Biomarker GENOMICS_ENGLAND Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. 16945537

2006

Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.400 Biomarker GENOMICS_ENGLAND Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. 16945537

2006

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.310 Biomarker GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167

2016

Entrez Id: 347273
Gene Symbol: CAVIN4
CAVIN4
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.310 Biomarker GENOMICS_ENGLAND Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. 21642240

2011

Entrez Id: 6443
Gene Symbol: SGCB
SGCB
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.300 Biomarker GENOMICS_ENGLAND Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452

2013