Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease GWASDB Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451). 23872634 2013
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease BEFREE The aim of this study was to identify the frequency of SCN10A mutations in Japanese patients with BrS and to compare the phenotypical differences between patients with BrS and those who have other BrS-causative genes. 25842276 2016
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease CLINVAR
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease GWASCAT Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451). 23872634 2013
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease BEFREE Furthermore, a genome-wide association study revealed that a common variant in SCN10A or HEY2 in addition to SCN5A is associated with BrS, thus, BrS may not be a monogenic Mendelian disease but probably an oligogenic disease. 30910390 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease BEFREE We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. 24667784 2014
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease BEFREE The SCN10A SNP V1073 was, however, associated strongly with BrS [66.9 vs. 40.1% (UK10K) OR (95% CI) = 3.02 (2.35-3.87), P = 8.07 × 10-19]. 25691538 2015
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease BEFREE Multiple genome-wide association studies (GWAS) and targeted gene sequencing have identified common variants in SCN10A in cases of PR and QRS duration abnormalities, atrial fibrillation and Brugada syndrome. 31195250 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease BEFREE Variants in SCN10A, which encodes a voltage-gated sodium channel, are associated with alterations of cardiac conduction parameters and the cardiac rhythm disorder Brugada syndrome; however, it is unclear how SCN10A variants promote dysfunctional cardiac conduction. 24642470 2014
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.800 GeneticVariation disease BEFREE Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. 23872634 2013
CUI: C3809893
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 2
EPISODIC PAIN SYNDROME, FAMILIAL, 2
0.700 GeneticVariation disease UNIPROT Gain-of-function Nav1.8 mutations in painful neuropathy. 23115331 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.480 GeneticVariation disease BEFREE SCN10A variants were also associated with subsequent development of atrial fibrillation and arrhythmia in the original 5272 "heart-healthy" study population. 23463857 2013
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.480 GeneticVariation disease BEFREE In this meta-analysis, both rs10428132 at SCN10A (OR=0.73, P=5.7 × 10(-6)) and rs11708996 at SCN5A (OR=0.80, P=0.02) showed a statistically significant decreased risk of AF. 24667784 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.480 GeneticVariation disease BEFREE These data suggest that genetic variation in SCN10A may play an important role in predicting AF recurrence after catheter ablation in the Chinese Han population. 28281580 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.480 GeneticVariation disease BEFREE In summary, our study suggests the possible involvement of the SCN10A variant in AF development in Chinese Han populations. 27725708 2016
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.480 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.480 GeneticVariation disease BEFREE In addition, this single nucleotide polymorphism trended towards an association with heart rate response during AF indicating the importance of this common SCN10A polymorphism as a marker of atrioventricular conduction. 24072447 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.480 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.480 GeneticVariation disease BEFREE Rare SCN10A variants encoding Nav1.8 were identified in 6.6% of patients with early onset AF. 25053638 2014
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy
0.330 GeneticVariation disease BEFREE Heterozygous mutations in TRPA1, which encodes the transient receptor potential cation channel, can cause familial episodic pain syndromes, and variants of genes coding for the voltage-gated sodium channels Nav1.8 (SCN10A) and Nav1.9 (SCN11A) lead to small-fibre neuropathy and congenital insensitivity to pain, respectively. 24813307 2014
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy
0.330 GeneticVariation disease BEFREE Genetic studies expanded the panel on genes involved in SFN because of the discovery of new mutations in SCN10A and SCN11A, besides the first found in SCN9A, and identification of mutations in COL6A5 in patients with itching. 28665811 2017
CUI: C3276706
Disease: Small Fiber Neuropathy
Small Fiber Neuropathy
0.330 GeneticVariation disease BEFREE Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy. 30731422 2019
CUI: C0018794
Disease: Heart Block
Heart Block
0.320 GeneticVariation disease BEFREE In addition, the A allele remained significant after adjusting for other covariates in a multivariate model (odds ratio = 6.30 [95% confidence interval: 2.24 to 19.09], P = 0.0005).The rs6795970 in the SCN10A gene, which is reported to carry a high risk of heart block, might be associated with cardiac conduction abnormalities in HCM patients. 26104176 2015
CUI: C0018794
Disease: Heart Block
Heart Block
0.320 GeneticVariation disease BEFREE We have shown that the gene SCN10A encoding the sodium channel Na(v)1.8 is a susceptibility factor for heart block and serious ventricular arrhythmia. 21646736 2011
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.320 GeneticVariation phenotype BEFREE We report here a patient with painful diabetic peripheral neuropathy and negative genetic screening for mutations in SCN9A, SCN10A, and SCN11A-genes encoding sodium channel α-subunit that have been previously linked to the development of neuropathic pain. 31041876 2020