Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.300 Biomarker phenotype GENOMICS_ENGLAND Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. 24440382 2014
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.300 Biomarker disease CLINGEN Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (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: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.300 Biomarker disease CLINGEN Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. 19429829 2009
CUI: C2748542
Disease: CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 		0.300 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
CUI: C1720983
Disease: Channelopathies
Channelopathies 		0.010 GeneticVariation disease BEFREE The sequence analysis provides the basis for comprehensive mutation screening of CACNA2 for putative MHS3 individuals and patients with other channelopathies. 10534405 1999
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.300 Biomarker group CTD_human Global gene expression analysis of rat colon cancers induced by a food-borne carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 15059925 2004
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		0.300 Biomarker phenotype CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
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
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		0.300 Biomarker phenotype CLINGEN Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
CUI: C1399226
Disease: Ectopic rhythm
Ectopic rhythm 		0.300 Biomarker phenotype CLINGEN Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. 19429829 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 Biomarker disease BEFREE We examined the genetic variants of THBS1 and CACNA2D1 in two independent cohorts of patients affected by IGE/GGE recruited through the Genetic Commission of the Italian League Against Epilepsy (LICE) and the EuroEPINOMICS-CoGIE Consortium. 28913875 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 GeneticVariation disease BEFREE Five patients with RE carried a rare CNV that disrupted genes associated with other epilepsies (<i>KCTD7</i>, <i>ARHGEF15</i>, <i>CACNA2D1, GRIN2A</i> and <i>ARHGEF4</i>), and 17 cases carried CNVs that disrupted genes associated with other neurological conditions or that are involved in neuronal signalling/development. 29789371 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 GeneticVariation disease BEFREE Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability. 25074461 2015
CUI: C0085614
Disease: First degree atrioventricular block
First degree atrioventricular block 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 Biomarker disease BEFREE Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. 29176626 2017
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 GeneticVariation disease BEFREE Using human genome-wide association study (GWAS) data, evidence for association of a CACNA2D1 single-nucleotide polymorphism and primary open angle glaucoma is found. 29176626 2017
CUI: C0018810
Disease: heart rate
heart rate 		0.100 GeneticVariation phenotype GWASCAT Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 Biomarker phenotype BEFREE Inhibiting α2δ-1 with gabapentin, uncoupling the α2δ-1-NMDAR interaction with an α2δ-1 C terminus-interfering peptide, or genetically ablating Cacna2d1 had no effect on basal NMDAR currents but strikingly abolished oxygen-glucose deprivation-induced NMDAR hyperactivity in hippocampal CA1 neurons. 30355118 2018
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.300 Biomarker phenotype CTD_human Upregulation of dorsal root ganglion (alpha)2(delta) calcium channel subunit and its correlation with allodynia in spinal nerve-injured rats. 11245671 2001
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.300 Biomarker phenotype CTD_human α2δ-1 gene deletion affects somatosensory neuron function and delays mechanical hypersensitivity in response to peripheral nerve damage. 24133248 2013
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.300 Biomarker phenotype CTD_human Chemical interactions between fibrosarcoma cancer cells and sensory neurons contribute to cancer pain. 17881535 2007
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		0.300 Biomarker phenotype CTD_human Upregulation of dorsal root ganglion (alpha)2(delta) calcium channel subunit and its correlation with allodynia in spinal nerve-injured rats. 11245671 2001
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		0.300 Biomarker phenotype CTD_human α2δ-1 gene deletion affects somatosensory neuron function and delays mechanical hypersensitivity in response to peripheral nerve damage. 24133248 2013
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		0.300 Biomarker phenotype CTD_human Chemical interactions between fibrosarcoma cancer cells and sensory neurons contribute to cancer pain. 17881535 2007