|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
|
15466643 |
2004 |
|
CARDIOMYOPATHY, DILATED, 1E
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
|
26279430 |
2015 |
|
Brugada Syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.
|
26111534 |
2015 |
|
Brugada Syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
|
24136861 |
2014 |
|
Brugada Syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.
|
24762805 |
2014 |
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
|
23420830 |
2013 |
|
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 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death.
|
23791817 |
2013 |
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
|
24167619 |
2013 |
|
Brugada Syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
|
22247482 |
2012 |
|
Brugada Syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.
|
21824921 |
2011 |
|
Brugada Syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
|
21596231 |
2011 |
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
|
19251209 |
2009 |
|
Hereditary bundle branch system defect
|
|
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
|
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
|
18252757 |
2008 |
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A sodium channel pore mutation causing Brugada syndrome.
|
17198989 |
2007 |
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
|
18341814 |
2007 |
|
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 |