Source: ORPHANET

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: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		disease 0.980 None 1.000 3 0 1995 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		disease 0.800 None 0.833 1 0 1995 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome 		disease 0.480 None 1.000 0 0 2005 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1838539
Disease: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE 		disease 0.470 None 1.000 1 0 2003 2018
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 2 0 2004 2018
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		disease 0.410 None 1.000 1 0 1999 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease 0.300 None 1.000 3 0 2008 2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0541782
Disease: Atrial standstill
Atrial standstill 		phenotype 0.300 None 1.000 1 0 2003 2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C4017668
Disease: VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO 		phenotype 0.300 None 1.000 1 0 2000 2000