Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT The K817E mutation of SCN5A gene leads to loss of function of NaV1.5 channel and may underlie the BrS phenotype of the proband. 26776555

2016

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Here, we report that a novel missense SCN5A mutation, L812Q, localized in the DII-S4 transmembrane region of the Nav1.5 channel protein, was identified in an index patient who showed a typical BrS type-1 ECG phenotype. 26279430

2016

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Here we identified a novel K817E mutation of SCN5A gene in a man with type 1 BrS electrocardiogram pattern using next-generation sequencing targeted for 73 cardiac disorder-related genes. 26776555

2016

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT The most common genotype found among BrS patients is caused by mutations in the SCN5A gene, which lead to a loss of function of the cardiac sodium (Na(+)) channel (Nav1.5) by different mechanisms. 26279430

2016

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel. 26776555

2016

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome. 26279430

2016

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT SCN5A encodes the α-subunit of NaV1.5 voltage-gated Na(+) channel, and some of its mutations are linked to BrS. 26776555

2016

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome. 24167619

2014

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT To date some SCN5A mutations related with BrS have been identified in voltage sensor of Nav1.5. 24167619

2014

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Brugada syndrome (BrS) is an inherited arrhythmogenic syndrome leading to sudden cardiac death, partially associated with autosomal dominant mutations in SCN5A, which encodes the cardiac sodium channel alpha-subunit (Nav1.5). 24167619

2014

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT We identified 2 compound heterozygous mutations (p.D1690N and p.G1748D) in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) in a proband diagnosed with Brugada syndrome type 1. 23085483

2013

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830

2013

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Overall, 21% of BrS probands have mutations in SCN5A compared to the 2% to 5% background rate of rare variants reported in healthy control subjects. 20129283

2011

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. 20129283

2011

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Until now, more than a hundred mutations in SCN5A responsible for Brugada syndrome have been described. 19272188

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT We detected a reported polymorphism site (A29A) and a novel missense mutation (Y1494N) on SCN5A in this Chinese family with Brugada syndrome. 18341814

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT In conclusion, the SCN5A channel defect related to Brugada syndrome might be diverse but all resulted in a decrease of sodium current. 19272188

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Here we reported three novel SCN5A mutations identified in patients with Brugada syndrome in Taiwan (p.I848fs, p.R965C, and p.1876insM). 19272188

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT To analyze the gene mutations on the cardiac sodium channel gene SCN5A in a Chinese family with Brugada syndrome. 18341814

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT However, SCN5A is the most well known responsible gene that causes Brugada syndrome. 19272188

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Two heterozygosis mutations, which include a missense mutation (Y1494N) and a same sense mutation (A29A), were identified on SCN5A gene in the proband with Brugada syndrome and these mutations were not detected in other family members with Brugada syndrome and in controls. 18341814

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Polymerase chain reaction and DNA sequencing were used to screen gene mutations on the cardiac sodium channel gene SCN5A in all family members of a Chinese pedigree with Brugada syndrome, single strand conformation polymorphism analysis were performed in 136 normal controls to detect the mutations of SCN5A gene. 18341814

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT [Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome]. 18341814

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT We studied BrS or PCCD probands and their relatives who carried a SCN5A mutation. 19251209

2009

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 GeneticVariation UNIPROT Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel. 18616619

2009