Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GermlineCausalMutation ORPHANET Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach. 22717692

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GermlineCausalMutation ORPHANET Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209

2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1879286
Disease: Hereditary bundle branch system defect
Hereditary bundle branch system defect 		0.980 GermlineCausalMutation ORPHANET In a French family, we have identified a splicing mutation in the SCN5A gene leading to hereditary progressive cardiac conduction defect. 12598077

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C2751898
Disease: Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Fibrillation, Paroxysmal Familial, 1 		0.800 GermlineCausalMutation ORPHANET These findings suggest that SCN5A is one of the responsible genes for IVF patients who do not show typical ECG manifestations of the Brugada syndrome. 10940383

2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome 		0.480 GermlineCausalMutation ORPHANET

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1838539
Disease: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE 		0.470 GermlineCausalMutation ORPHANET The three living AS patients exclusively coinherited both the rare Cx40 genotype and the SCN5A-D1275N mutation. 12522116

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 GermlineCausalMutation ORPHANET Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. 22766342

2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.430 GermlineCausalMutation ORPHANET SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 15466643

2004
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.410 GermlineCausalMutation ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767

2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 GermlineCausalMutation ORPHANET A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation. 24582607

2014
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 GermlineCausalMutation ORPHANET Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. 18378609

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 GermlineCausalMutation ORPHANET A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. 18929244

2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0541782
Disease: Atrial standstill
Atrial standstill 		0.300 GermlineCausalMutation ORPHANET The three living AS patients exclusively coinherited both the rare Cx40 genotype and the SCN5A-D1275N mutation. 12522116

2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4017668
Disease: VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO 		0.300 GermlineCausalMutation ORPHANET A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. 10940383

2000