Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE One hundred seventeen euthymic BD type I subjects were genotyped for CACNA1C rs1006737 and underwent 3 T three-dimensional structural magnetic resonance imaging scans to determine cortical thickness of mPFC components (superior frontal cortex (sFC), medial orbitofrontal cortex (mOFC), caudal anterior cingulate cortex (cACC) and rostral anterior cingulate cortex (rACC)). 28398341 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE Genome-wide association studies have suggested that allelic variations in the CACNA1C gene confer susceptibility to schizophrenia and bipolar disorder only in women. 30124797 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE Genetic analyses have reported numerous BD susceptibility genes, while some variants, such as single-nucleotide polymorphisms (SNPs) in CACNA1C have been successfully replicated, many others have not and subsequently their effects on the intermediate phenotypes cannot be verified. 23568192 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease GWASCAT Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder. 28072414 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease GWASDB Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. 22182935 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE Our data demonstrate that the effect of CACNA1C rs1006737 and ANK3 rs10994336 (or genetic variants in linkage disequilibrium) on the brain converges on the neural circuitry involved in affect processing and provides a mechanism linking BD to genome-wide genetic risk variants. 24108394 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 Biomarker disease CTD_human Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4. 21926972 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE The top association findings suggested that the BD risk alleles at SNP rs4765913 in CACNA1C gene and rs7042161 in SVEP1 may be associated with increased risk of 'cardiac dysrhythmias' (odds ratio (OR)=1.1, P=3.4 × 10(-3)) and 'essential hypertension' (OR=1.1, P=3.5 × 10(-3)), respectively. 27529678 2016
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 Biomarker disease PSYGENET Our findings implicate abnormal perigenual and hippocampal activation as a promising intermediate phenotype for psychiatric disease and suggest a pathophysiologic mechanism conferred by a CACNA1C variant being implicated in risk for symptom dimensions shared among bipolar disorder, major depression, and schizophrenia. 24411473 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 Biomarker disease BEFREE Particular sequence variants of the 30-mer are associated with risk status at several flanking single-nucleotide polymorphisms in the third intron of CACNA1C that have previously been linked to BD and SCZ. 30100087 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE The effects of CACNA1C gene polymorphism on spatial working memory in both healthy controls and patients with schizophrenia or bipolar disorder. 22012475 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE Here we sought to investigate the influence of CACNA1C polymorphism on key subcortical brain structures implicated in the pathophysiology of BD. 21292451 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 Biomarker disease BEFREE Several genome-wide linkage studies in BPAD and migraine have shown overlapping regions of linkage on chromosomes, and two functionally similar voltage-dependent calcium channels CACNA1A and CACNA1C have been identified in familial hemiplegic migraine and recently implicated in two whole genome BPAD association studies, respectively. 19819557 2010
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease GWASDB Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. 18711365 2008
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE CACNA1C risk variant and amygdala activity in bipolar disorder, schizophrenia and healthy controls. 23437284 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE The CACNA1C polymorphism rs1006737 is associated with the mean thickness of cortical brain areas that have been shown to be altered in bipolar disorder. 31829002 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 Biomarker disease CTD_human In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10(-9)), ANK3 (rs10994359, P = 2.5 × 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10(-9)). 21926974 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE Genome-wide association studies have reported strong evidence of association between the polymorphisms rs10994336[T] in the ANK3 gene and rs1006737[A] in the CACNA1C gene and risk of bipolar disorder. 21395576 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 Biomarker disease BEFREE In humans, CACNA1C has emerged as one of the most widely reproduced and prominent candidate risk genes for a range of neuropsychiatric disorders, including bipolar disorder (BD), schizophrenia (SCZ), major depressive disorder, autism spectrum disorder, and attention deficit hyperactivity disorder. 28497380 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. 20351715 2011
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE Recent genome-wide association studies have associated polymorphisms in the gene CACNA1C, which codes for Ca(v)1.2, with a bipolar disorder and depression diagnosis. 20723887 2010
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 Biomarker disease PSYGENET The variants at ANK3 and CACNA1C previously known to be associated with BP were not in linkage disequilibrium with either of the two variants that we identified and these are therefore independent of the previous haplotypes implicated by genome-wide association. 24716743 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE In this study, we aimed to determine whether the BD-associated gene CACNA1C confers susceptibility to schizophrenia. 23900723 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.700 GeneticVariation disease BEFREE The CACNA1C genotype did not impact on amygdala or hippocampus volume neither in BD nor controls. 22464935 2012