Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		phenotype 0.100 None 0 1
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease 0.500 None 1.000 0 1 2005 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C3151464
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 10 		disease 0.700 None 1.000 0 9 1995 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4016652
Disease: ATRIAL STANDSTILL 1, DIGENIC
ATRIAL STANDSTILL 1, DIGENIC 		disease 0.100 None 0 1
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		disease 1.000 definitive 0.984 162 101 1995 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		disease 0.910 None 1.000 8 34 1995 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1861984
Disease: Cardiac Conduction Defect, Nonprogressive
Cardiac Conduction Defect, Nonprogressive 		disease 0.300 None 1.000 0 1 2002 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		disease 0.300 None 1.000 0 1 2005 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.700 strong 1.000 16 3 1998 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
CARDIOMYOPATHY, DILATED, 1E 		disease 0.900 None 1.000 0 11 1995 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		disease 0.200 None 1.000 8 3 1996 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		phenotype 0.100 None 0 1
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease 0.430 None 1.000 0 2 2004 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1861983
Disease: Heart Block, Nonprogressive
Heart Block, Nonprogressive 		disease 0.300 None 1.000 0 1 2002 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		disease 0.980 None 1.000 0 6 1995 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		disease 0.120 None 1.000 0 1 2008 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.120 None 1.000 0 1 2008 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		disease 0.700 strong 0.987 3 4 1995 2020
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C3276240
Disease: LONG QT SYNDROME 2/3, DIGENIC
LONG QT SYNDROME 2/3, DIGENIC 		disease 0.300 None 1.000 0 1 2001 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1859062
Disease: LONG QT SYNDROME 3
LONG QT SYNDROME 3 		disease 1.000 None 1.000 21 30 1995 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1838527
Disease: LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding)
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding) 		disease 0.300 None 1.000 0 1 2001 2012