Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 13 new risk loci for schizophrenia. 23974872 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease GWASDB Genome-wide association analysis identifies 13 new risk loci for schizophrenia. 23974872 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 Biomarker disease BEFREE Thus, the current study investigated the mechanisms of how the CACNB2 gene influences hippocampal-cortical limbic circuits in patients with bipolar disorder (BD). 30744588 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 GeneticVariation disease BEFREE Combined analysis with independent replication samples further supported the association of rs11013860 in CACNB2 with BP subtype I (P=1×10(-6)). 24581832 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 Biomarker disease PSYGENET Combined analysis with independent replication samples further supported the association of rs11013860 in CACNB2 with BP subtype I (P=1×10(-6)). 24581832 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.420 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval 		0.400 Biomarker phenotype GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval 		0.400 Biomarker phenotype HPO
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker phenotype CLINGEN Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166 2012
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker phenotype CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		0.300 Biomarker phenotype CLINGEN Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166 2012
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		0.300 Biomarker phenotype CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166 2012
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		0.300 Biomarker phenotype CLINGEN Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166 2012
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		0.300 Biomarker phenotype CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.300 Biomarker disease CLINGEN Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166 2012
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.300 Biomarker disease CLINGEN Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay. 22090166 2012
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.300 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker phenotype CLINGEN Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 20817017 2010
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		0.300 Biomarker phenotype CLINGEN Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 20817017 2010
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease CLINGEN Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 20817017 2010
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		0.300 Biomarker phenotype CLINGEN Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. 20817017 2010