Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 CausalMutation disease CLINVAR
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease GENOMICS_ENGLAND SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. 7889574 1995
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker disease CLINGEN Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. 8922383 1996
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325 1998
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A. 9839820 1998
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease CLINVAR 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 		0.910 GeneticVariation disease UNIPROT Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948 1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. 10690282 1999
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker disease CLINGEN Cloning and expression of the human kv4.3 potassium channel. 10200233 1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. 10618304 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. 10662748 2000
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker disease CLINGEN Cloning of the beta(2a) subunit of the voltage-dependent calcium channel from human heart: cooperative effect of alpha(2)/delta and beta(2a) on the membrane expression of the alpha(1C) subunit. 10623591 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease 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 		0.910 GeneticVariation disease 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: 55800
Gene Symbol: SCN3B
SCN3B 		0.300 Biomarker disease CLINGEN The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. 11744748 2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453 2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. 12106943 2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease CLINVAR A calcium sensor in the sodium channel modulates cardiac excitability. 11807557 2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Novel mutations in domain I of SCN5A cause Brugada syndrome. 12051963 2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Natural history of Brugada syndrome: insights for risk stratification and management. 11901046 2002
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker disease CLINGEN Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. 11984590 2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Flecainide test in Brugada syndrome: a reproducible but risky tool. 12687841 2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. 15338453 2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 Biomarker disease CTD_human Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. 15520322 2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.910 GeneticVariation disease UNIPROT A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. 15023552 2004