Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 Biomarker GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 Biomarker GENOMICS_ENGLAND SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia. 24317018

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830

2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 Biomarker GENOMICS_ENGLAND Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation. 22490985

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 Biomarker MGD Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. 21824921

2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 Biomarker GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049

2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 GeneticVariation UNIPROT SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 15466643

2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 Biomarker GENOMICS_ENGLAND SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. 7889574

1995
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 CausalMutation CLINVAR

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 GeneticVariation CLINVAR

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		0.900 Biomarker CTD_human