Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Novel mutations in domain I of SCN5A cause Brugada syndrome. 12051963

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Natural history of Brugada syndrome: insights for risk stratification and management. 11901046

2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 11748104

2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 11410597

2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304

2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948

1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 10690282

1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.910 GeneticVariation UNIPROT Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325

1998