Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.300 Biomarker disease CLINGEN Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome. 26179811 2015
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.300 Biomarker disease CLINGEN Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome. 26179811 2015
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.300 Biomarker disease CLINGEN Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort. 26173111 2015
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker phenotype CLINGEN A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. 23559163 2013
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		0.300 Biomarker phenotype CLINGEN A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. 23559163 2013
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. 23559163 2013
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		0.300 Biomarker phenotype CLINGEN A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. 23559163 2013
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.300 Biomarker disease CLINGEN A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. 23559163 2013
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.300 Biomarker disease CLINGEN A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. 23559163 2013
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker phenotype CLINGEN Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		0.300 Biomarker phenotype CLINGEN Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		0.300 Biomarker phenotype CLINGEN Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 GermlineCausalMutation disease ORPHANET Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.300 Biomarker disease CLINGEN Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.300 Biomarker disease CLINGEN Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
CUI: C0029882
Disease: Otitis Media
Otitis Media 		0.200 Biomarker disease RGD Suppression of epithelial ion transport transcripts during pneumococcal acute otitis media in the rat. 12206256 2002
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.200 Biomarker disease RGD mRNA coding for voltage-gated sodium channel beta2 subunit in rat central nervous system: cellular distribution and changes following kainate-induced seizures. 9672387 1998
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. 19074352 2008
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 Biomarker disease HPO
CUI: C0030591
Disease: Paroxysmal ventricular tachycardia
Paroxysmal ventricular tachycardia 		0.100 Biomarker disease HPO
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome 		0.100 Biomarker disease HPO
CUI: C0039070
Disease: Syncope
Syncope 		0.100 Biomarker phenotype HPO
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		0.100 Biomarker disease HPO
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.100 Biomarker disease HPO