×
Entrez Id:
6336
Gene Symbol:
SCN10A
SCN10A
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
CausalMutation
disease
CLINVAR
"A revised view of cardiac sodium channel ""blockade"" in the long-QT syndrome."
10772658
2000
×
Entrez Id:
287
Gene Symbol:
ANK2
ANK2
0.300
Biomarker
disease
CLINGEN
"Defining the cellular phenotype of ""ankyrin-B syndrome"" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes."
17242276
2007
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
LHGDN
"Molecular underpinning of ""good luck""."
16880338
2006
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
<b>Conclusion:</b> A common SCN5A polymorphism R1193Q enhances UDB by propafenone and predisposes the patients to drug-induced BrS with PIP treatment.
30984031
2019
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
Brugada syndrome exhibits autosomal dominant inheritance with SCN5A , which encodes the cardiac sodium channel, as the only gene with a proven involvement in 20-30% of patients.
15913579
2005
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
Brugada syndrome is a life-threatening, inherited arrhythmia disorder associated with autosomal dominant mutations in SCN5A , the gene encoding the human cardiac Na+ channel alpha subunit (Nav1.5).
19706159
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
Brugada syndrome is a disease known to cause ventricular fibrillation with a structurally normal heart and is linked to SCN5A gene mutation.
20219395
2011
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
Brugada syndrome (BrS) is caused mainly by mutations in the SCN5A gene, which encodes the α-subunit of the cardiac sodium channel Na(v)1.5.
21447824
2011
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
Brugada syndrome (BrS ) is an autosomal-dominant genetic cardiac disorder caused in 18-30 % of the cases by SCN5A gene mutations and manifested by an atypical right bundle block pattern with ST segment elevation and T wave inversion in the right precordial leads.
25758664
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
Brugada syndrome (BrS ) is an inherited cardiac arrhythmia commonly associated with SCN5A mutations, yet its ionic mechanisms remain unclear due to a lack of cellular models.
30050137
2018
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
Brugada syndrome with SCN5A mutations exhibits more pronounced electrophysiological defects and more severe prognosis: A meta-analysis.
30963536
2020
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
Brugada syndrome has a similar prevalence in families with SCD and PAS as in families with SCD alone, although SCD in families with SCD and PAS occurs in more family members and at older age, while SCN5A mutations in these families are rare.
31422358
2020
×
Entrez Id:
10142
Gene Symbol:
AKAP9
AKAP9
0.310
Biomarker
disease
BEFREE
Brugada syndrome & AKAP9 : Reconciling clinical findings with diagnostic uncertainty.
31654968
2019
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
SCN5A mutation (T1620M ) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells.
10664447
2000
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
SCN5A was screened for mutations in a male patient with type-1 BrS pattern ECG.
18252757
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
LHGDN
SCN5A was screened for mutations in a male patient with type-1 BrS pattern ECG.
18252757
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
Biomarker
disease
BEFREE
SCN5A , a gene encoding the cardiac sodium channel, has been reported to be causally related to BrS .
18355654
2008
×
Entrez Id:
23171
Gene Symbol:
GPD1L
GPD1L
0.360
Biomarker
disease
BEFREE
GPD1L does not appear to be a major cause of Brugada syndrome in the Japanese population.
18762705
2008
×
Entrez Id:
23171
Gene Symbol:
GPD1L
GPD1L
0.360
Biomarker
disease
CLINGEN
GPD1L does not appear to be a major cause of Brugada syndrome in the Japanese population.
18762705
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with Brugada syndrome .
21048329
2010
×
Entrez Id:
29098
Gene Symbol:
RANGRF
RANGRF
0.550
Biomarker
disease
CLINGEN
MOG1 was screened by direct sequencing in patients with BrS and idiopathic ventricular fibrillation.
21447824
2011
×
Entrez Id:
29098
Gene Symbol:
RANGRF
RANGRF
0.550
Biomarker
disease
BEFREE
MOG1 was screened by direct sequencing in patients with BrS and idiopathic ventricular fibrillation.
21447824
2011
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
GeneticVariation
disease
BEFREE
SCN5A mutations have been associated with a variety of inherited arrhythmias, including long QT syndrome and Brugada syndrome .
22682427
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
1.000
Biomarker
disease
BEFREE
SCN5A , encoding the cardiac sodium channel Na(v)1.5, is the main gene involved in BrS .
22739120
2012