Entrez Id: |
6331 |
Gene Symbol: |
SCN5A |
SCN5A
|
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
|
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
|
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
|
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
|
Sick Sinus Syndrome
|
0.480 |
GermlineCausalMutation |
ORPHANET |
|
|
|
Entrez Id: |
6331 |
Gene Symbol: |
SCN5A |
SCN5A
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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 |