Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. | 23785128 | 2013 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. | 20129283 | 2010 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | BEFREE | Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome. | 18503232 | 2008 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. | 15520322 | 2004 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | BEFREE | Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. | 11786529 | 2002 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. | 11827685 | 2002 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation. | 11123251 | 2001 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. | 10618304 | 2000 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | BEFREE | SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells. | 10664447 | 2000 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | BEFREE | The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation. | 11029409 | 2000 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation. | 11029409 | 2000 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. | 10532948 | 1999 | |||||
Brugada Syndrome (disorder)
|
0.740 | GeneticVariation | CLINVAR | Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. | 9521325 | 1998 |