|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
|
26776555 |
2016 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
|
10690282 |
1999 |
|
Brugada Syndrome 1
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
|
18341814 |
2007 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
|
11823453 |
2002 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
|
19272188 |
2009 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
|
12106943 |
2002 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A sodium channel pore mutation causing Brugada syndrome.
|
17198989 |
2007 |
|
Brugada Syndrome 1
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
|
26279430 |
2015 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
|
24167619 |
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 |
|
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 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A sodium-channel mutation causes isolated cardiac conduction disease.
|
11234013 |
2001 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
|
12569159 |
2003 |
|
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 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
|
11804990 |
2002 |
|
Long QT Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.
|
18065446 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
|
12454206 |
2003 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
|
10377081 |
1999 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
|
9506831 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular mechanism for an inherited cardiac arrhythmia.
|
7651517 |
1995 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.
|
18060054 |
2007 |