Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 3752
Gene Symbol: KCND3
KCND3 		0.300 Biomarker phenotype CLINGEN Cloning and expression of the human kv4.3 potassium channel. 10200233 1999
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker phenotype 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: 55800
Gene Symbol: SCN3B
SCN3B 		0.500 Biomarker phenotype CLINGEN The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. 11744748 2001
Entrez Id: 3764
Gene Symbol: KCNJ8
KCNJ8 		0.300 Biomarker phenotype CLINGEN Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. 11984590 2002
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		0.500 Biomarker phenotype CLINGEN Distinct subcellular localization of different sodium channel alpha and beta subunits in single ventricular myocytes from mouse heart. 15007009 2004
Entrez Id: 10021
Gene Symbol: HCN4
HCN4 		0.300 Biomarker phenotype CLINGEN Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 15123648 2004
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		0.500 Biomarker phenotype CLINGEN Modulation of Na(v)1.5 by beta1-- and beta3-subunit co-expression in mammalian cells. 15455233 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.200 Biomarker phenotype MGD Mouse model of SCN5A-linked hereditary Lenègre's disease: age-related conduction slowing and myocardial fibrosis. 15809371 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.200 Biomarker phenotype MGD Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. 17145985 2006
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker phenotype CLINGEN Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 17224476 2007
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L 		0.300 Biomarker phenotype CLINGEN Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 17967977 2007
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
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L 		0.300 Biomarker phenotype CLINGEN Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome. 18762705 2008
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: 10021
Gene Symbol: HCN4
HCN4 		0.300 Biomarker phenotype CLINGEN Role of HCN4 channel in preventing ventricular arrhythmia. 19165230 2009
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		0.500 Biomarker phenotype MGD Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties. 19351516 2009
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		0.500 Biomarker phenotype CLINGEN Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties. 19351516 2009
Entrez Id: 783
Gene Symbol: CACNB2
CACNB2 		0.300 Biomarker phenotype CLINGEN Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. 19358333 2009
Entrez Id: 781
Gene Symbol: CACNA2D1
CACNA2D1 		0.300 Biomarker phenotype CLINGEN Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. 19429829 2009
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: 23171
Gene Symbol: GPD1L
GPD1L 		0.300 Biomarker phenotype CLINGEN GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. 19666841 2009
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B 		0.300 Biomarker phenotype CLINGEN Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		0.500 Biomarker phenotype CLINGEN A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. 20031595 2009