rs137854618, SCN5A

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
0.800 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
CARDIOMYOPATHY, DILATED, 1E
CUI: C1832680
Disease: CARDIOMYOPATHY, DILATED, 1E
0.800 GeneticVariation UNIPROT SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. 15466643 2004
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. 18456723 2008
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 23994779 2013
ATRIAL STANDSTILL 1
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
0.700 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT A sodium channel pore mutation causing Brugada syndrome. 17198989 2007
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 12569159 2003
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. 18252757 2008
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. 26279430 2015
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT A sodium-channel mutation causes isolated cardiac conduction disease. 11234013 2001
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties. 16266370 2005
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. 18451998 2008
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome. 24167619 2013
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations. 19272188 2009
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. 16325048 2005
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. 12574143 2003
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. 16616735 2006
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 9521325 1998
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel. 26776555 2016
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209 2009
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. 11823453 2002
ATRIAL STANDSTILL 1
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
0.700 GeneticVariation UNIPROT A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 12522116 2003
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. 10532948 1999
Brugada Syndrome 1
CUI: C4551804
Disease: Brugada Syndrome 1
0.700 GeneticVariation UNIPROT [Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome]. 18341814 2007