Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085614
Disease: First degree atrioventricular block
First degree atrioventricular block 		0.100 Biomarker disease HPO
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block 		0.100 Biomarker disease HPO
CUI: C0155707
Disease: Trifascicular block
Trifascicular block 		0.100 Biomarker disease HPO
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.100 Biomarker disease HPO
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding) 		0.100 Biomarker phenotype HPO
CUI: C0600125
Disease: Prolonged PR interval
Prolonged PR interval 		0.100 Biomarker phenotype HPO
CUI: C3715208
Disease: AV Block First Degree by ECG Finding
AV Block First Degree by ECG Finding 		0.100 Biomarker phenotype HPO
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.040 GeneticVariation disease BEFREE We and others identified loss-of-function mutations in SCN1B and SCN2B and dominant-negative mutations in SCN3B in patients with AF. 30821358 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.040 GeneticVariation disease BEFREE Mutations in the cardiac sodium channel α, β1, β2 and β3 subunit genes (SCN5A, SCN1B, SCN2B and SCN3B) have been associated with AF, which suggests that mutations in the sodium channel β4 subunit gene, SCN4B, are also involved in the pathogenesis of AF. 23604097 2013
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.040 Biomarker disease BEFREE Mutations in cardiac sodium channel alpha, beta1 and beta2 subunit genes (SCN5A, SCN1B, and SCN2B) have been identified in AF patients. 20558140 2010
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.040 GeneticVariation disease BEFREE We identified 2 nonsynonymous variants in SCN1B (resulting in R85H, D153N) and 2 in SCN2B (R28Q, R28W) in patients with AF. 19808477 2009
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.020 GeneticVariation disease BEFREE Our results suggest that variants of SCN1B and SCN2B may not be common causes of DS according to our data. 30921204 2019
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.020 GeneticVariation disease BEFREE Our results suggest that variants of SCN1B and SCN2B may not be common causes of DS according to our data. 30921204 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 Biomarker disease BEFREE Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy. 24337656 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 GeneticVariation disease BEFREE In this study, we determined the prevalence of SCN1A mutations (SCN1A, SCN2A, SCN1B and SCN2B) in 448 patients with suspected DS and intractable childhood epilepsy. 23195492 2012
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.020 Biomarker disease BEFREE In this study, we determined the prevalence of SCN1A mutations (SCN1A, SCN2A, SCN1B and SCN2B) in 448 patients with suspected DS and intractable childhood epilepsy. 23195492 2012
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		0.020 Biomarker disease BEFREE In this study, we determined the prevalence of SCN1A mutations (SCN1A, SCN2A, SCN1B and SCN2B) in 448 patients with suspected DS and intractable childhood epilepsy. 23195492 2012
CUI: C0391957
Disease: idiopathic epilepsy
idiopathic epilepsy 		0.010 GeneticVariation disease BEFREE SCN1A rs2298771 was associated in Indians (OR = 0.56, p = 0.005) and SCN2B rs602594 with idiopathic epilepsy (OR = 0.62, p = 0.002). 24337656 2014
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 AlteredExpression disease BEFREE The RT-qPCR (21 DCM and 8 CNT samples) validated the gene expression of SCN2B (p < 0.0001), KCNJ5 (p < 0.05), KCNJ8 (p < 0.05), CLIC2 (p < 0.05), and CACNB2 (p < 0.05). 24339868 2013
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.010 GeneticVariation disease BEFREE Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic-clonic seizure. 20730464 2010
CUI: C1832399
Disease: Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B1 		0.010 GeneticVariation disease BEFREE In addition, a search for mutations in patients affected with CMT4B as well as a refined physical localisation excludes SCN2B as the CMT4B gene. 9887383 1999