Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND A multicentre study of patients with Timothy syndrome. 28371864 2018
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GeneticVariation disease UNIPROT Through expanded whole exome sequencing, we identified a novel genetic substrate for TS, p.Ile1166Thr-CACNA1C. 25260352 2015
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome. 26253506 2015
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GeneticVariation disease UNIPROT Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome. 26253506 2015
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND This study aimed to elucidate the frequency of CACNA1C mutations in patients with long QT syndrome (LQTS), except those with Timothy syndrome and investigate phenotypic variants. 24728418 2014
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GeneticVariation disease UNIPROT Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612 2005
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 GeneticVariation disease UNIPROT Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
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: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 Biomarker disease CTD_human Single-nucleotide polymorphisms (SNPs) in CACNA1C, the α1C subunit of the voltage-gated L-type calcium channel Ca<sub>v</sub>1.2, rank among the most consistent and replicable genetics findings in psychiatry and have been associated with schizophrenia, bipolar disorder and major depression. 28696432 2018
CUI: C2678478
Disease: Brugada Syndrome 3
Brugada Syndrome 3 		0.700 Biomarker disease GENOMICS_ENGLAND A multicentre study of patients with Timothy syndrome. 28371864 2018
CUI: C2678478
Disease: Brugada Syndrome 3
Brugada Syndrome 3 		0.700 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
CUI: C2678478
Disease: Brugada Syndrome 3
Brugada Syndrome 3 		0.700 Biomarker disease GENOMICS_ENGLAND Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death. 26253506 2015
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 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 Biomarker disease PSYGENET Genotyping of five genome-wide significant variants identified for BD (in CACNA1C, ANK3, and ODZ4) was performed in 673 BPD cases and 748 controls. 25304227 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.700 Biomarker disease PSYGENET In treatment of BD with calcium channel blocking drugs, we would predict better response in patients without the risk allele, because they have increased CACNA1C expression. 23979604 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.700 Biomarker disease PSYGENET The variant at rs1006737 in the L-type voltage-gated calcium channel (alpha 1c subunit) CACNA1C gene is reliably associated with both bipolar disorder and schizophrenia. 25290268 2014
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive 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: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 Biomarker disease PSYGENET Since CACNA1C variants have been associated repeatedly with psychosis at a genome-wide level, and preclinical data provide convergent evidence for the relevance of the CACNA1C gene for hippocampal and frontolimbic plasticity and adaptive regulation of stress, our data suggest a potential pathophysiological mechanism conferred by CACNA1C variants that may mediate risk for symptom dimensions shared among bipolar disorder, major depression, and schizophrenia. 24642287 2014
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 Biomarker disease PSYGENET Our findings support CACNA1C being a risk gene for both schizophrenia and major depressive disorder in the Han Chinese population. 24262814 2014
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.700 Biomarker disease PSYGENET Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in genes encoding the neuronal calcium channel CaV1.2 (CACNA1C; rs1006737) and the presynaptic active zone protein Piccolo (PCLO; rs2522833) as risk factors for affective disorders, particularly major depression. 24643163 2014