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 disease CLINGEN Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. 22056721 2012
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker disease CLINGEN Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. 20558321 2010
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker disease CLINGEN Role of ATP-sensitive K+ channels in cardiac arrhythmias. 24367007 2014
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker disease 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: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker disease 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 disease CLINGEN Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. 8922383 1996
Entrez Id: 5318
Gene Symbol: PKP2
PKP2 		0.300 Biomarker disease 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 disease 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 disease 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 disease 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 disease 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 disease CLINGEN High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia. 25998140 2015
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome. 24998131 2014
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN A common genetic variant within SCN10A modulates cardiac SCN5A expression. 24642470 2014
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: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN Contrasting Nav1.8 Activity in Scn10a-/- Ventricular Myocytes and the Intact Heart. 27806966 2016
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease 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 		0.500 Biomarker disease CLINGEN Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population. 27272739 2017
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CTD_human Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634 2013
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic. 22723299 2012
Entrez Id: 6336
Gene Symbol: SCN10A
SCN10A 		0.500 Biomarker disease CLINGEN Novel SCN10A variants associated with Brugada syndrome. 25842276 2016
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.500 Biomarker disease CLINGEN Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 18464934 2008
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.500 Biomarker disease CLINGEN A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. 22155597 2012
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.500 Biomarker disease CLINGEN SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 25253298 2014
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		0.500 Biomarker disease CTD_human A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. 22155597 2012