Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678477
Disease: Brugada Syndrome 4
Brugada Syndrome 4
0.700 GeneticVariation disease UNIPROT Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 17224476 2007
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.510 GeneticVariation disease LHGDN Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. 17224476 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease GWASCAT Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 31268507 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease BEFREE RNA-sequencing analyses of cortical and striatal micropunches from Brd1<sup>+/-</sup> and wild-type mice revealed differential expression of genes enriched for schizophrenia risk, including several schizophrenia genome-wide association study risk genes (e.g., calcium channel subunits [Cacna1c and Cacnb2], cholinergic muscarinic receptor 4 [Chrm4)], dopamine receptor D<sub>2</sub> [Drd2], and transcription factor 4 [Tcf4]). 27837920 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease GWASCAT Biological insights from 108 schizophrenia-associated genetic loci. 25056061 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.430 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
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 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 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.300 GeneticVariation disease UNIPROT
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.150 GeneticVariation group BEFREE In conclusion, the results of our case-control study confirmed the significant association of the SNP rs2932538 in MOV10 and SNP rs4373814 in CACNB2 with an increased risk of hypertension in a Chinese Han population, suggesting that the SNP rs2932538 may be a poor prognostic indicator for hypertension, while SNP rs4373814 may be a good prognostic indicator for hypertension in the same region. 24338417 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.150 GeneticVariation group BEFREE These data suggest that genetic variation within CACNB2 may influence treatment-related outcomes in high-risk patients with hypertension. 21156931 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.150 GeneticVariation group BEFREE Two variants in CACNB2 and PLEKHA7 were found to be significantly related to hypertension (odds ratios [OR] and (95% confidence interval [CI]): 0.79 (0.65-0.97) and 1.19 (1.01-1.41), respectively) in logistic regression analyses after adjusted by age, sex and BMI. 21963141 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.150 GeneticVariation group GWASDB Genome-wide association study of blood pressure and hypertension. 19430479 2009
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.150 GeneticVariation group GWASCAT Genome-wide association study of blood pressure and hypertension. 19430479 2009
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.110 GeneticVariation disease BEFREE Two candidate AF variants in the calcium channel subunit genes (CACNB2 and CACNA2D4) were identified in two separate families using expression data and predicted function. 24727801 2014
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.110 GeneticVariation disease GWASCAT Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. 23453885 2013
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018