Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker phenotype CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker phenotype CLINGEN Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. 19120683 2009
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker phenotype CLINGEN Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. 22056721 2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker phenotype CLINGEN Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. 24352520 2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker phenotype CLINGEN Arrhythmogenic cardiomyopathy and provocable Brugada ECG in a patient caused by missense mutation in plakophilin-2. 24681023 2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker phenotype CLINGEN Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency. 22764151 2012
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker phenotype CLINGEN High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia. 25998140 2015
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker phenotype CLINGEN Desmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndrome. 24656989 2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker phenotype CLINGEN Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes. 19661460 2009
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker phenotype CLINGEN Epicardial Ventricular Tachycardia Ablation in a Patient With Brugada ECG Pattern and Mutation of PKP2 and DSP Genes. 25900994 2015
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker phenotype CLINGEN Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. 8922383 1996
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 Biomarker phenotype CLINGEN A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A. 9839820 1998
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 Biomarker phenotype CLINGEN Novel SCN10A variants associated with Brugada syndrome. 25842276 2016
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 Biomarker phenotype CLINGEN Contrasting Nav1.8 Activity in Scn10a-/- Ventricular Myocytes and the Intact Heart. 27806966 2016
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 Biomarker phenotype CLINGEN Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. 24998131 2014
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 Biomarker phenotype CLINGEN Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic. 22723299 2012
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 Biomarker phenotype CLINGEN A common genetic variant within SCN10A modulates cardiac SCN5A expression. 24642470 2014
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 Biomarker phenotype CLINGEN Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. 25691538 2015
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.300 Biomarker phenotype CLINGEN Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population. 27272739 2017
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.300 Biomarker phenotype CLINGEN Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation. 28217227 2017
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.300 Biomarker phenotype CLINGEN Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome. 26179811 2015
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.300 Biomarker phenotype CLINGEN Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts. 25772295 2015
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.300 Biomarker phenotype CLINGEN SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation. 22155598 2012
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.300 Biomarker phenotype CLINGEN SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 25253298 2014
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.300 Biomarker phenotype CLINGEN Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 18464934 2008