Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234238
Disease: Ache
Ache 		0.300 Biomarker phenotype CTD_human Identification of the alpha2-delta-1 subunit of voltage-dependent calcium channels as a molecular target for pain mediating the analgesic actions of pregabalin. 17088553 2006
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0458247
Disease: Allodynia
Allodynia 		0.300 Biomarker phenotype CTD_human Chemical interactions between fibrosarcoma cancer cells and sensory neurons contribute to cancer pain. 17881535 2007
CUI: C0458247
Disease: Allodynia
Allodynia 		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: C0458247
Disease: Allodynia
Allodynia 		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: C2931783
Disease: Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta nephrocalcinosis 		0.010 Biomarker disease BEFREE These results are the first to identify CACNA2D1 as a novel BrS susceptibility gene and CACNA1C, CACNB2, and CACNA2D1 as possible novel ERS susceptibility genes. 20817017 2010
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 Biomarker disease HPO
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.100 Biomarker disease HPO
CUI: C3715208
Disease: AV Block First Degree by ECG Finding
AV Block First Degree by ECG Finding 		0.100 Biomarker phenotype HPO
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 Biomarker disease BEFREE This is the first report describing chromosome insertion inv ins (18,7) and attributes DPP6 and CACNA2D1 to azoospermia. 24937803 2014
CUI: C0428977
Disease: Bradycardia
Bradycardia 		0.100 Biomarker phenotype HPO
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 SusceptibilityMutation disease ORPHANET CACNA1C, CACNB2b, and CACNA2D1 genes of 162 probands with BrS and BrS+SQT, 19 with IVF, and 24 with ERS were screened by direct sequencing. 20817017 2010
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease CLINGEN CACNA1C, CACNB2b, and CACNA2D1 genes of 162 probands with BrS and BrS+SQT, 19 with IVF, and 24 with ERS were screened by direct sequencing. 20817017 2010
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease CLINGEN Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. 19429829 2009
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 Biomarker disease CLINGEN Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 SusceptibilityMutation disease ORPHANET 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) 		0.620 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 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: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.620 GeneticVariation disease BEFREE CACNA1C, CACNB2b, and CACNA2D1 genes of 162 probands with BrS and BrS+SQT, 19 with IVF, and 24 with ERS were screened by direct sequencing. 20817017 2010
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		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: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.300 Biomarker disease CLINGEN Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. 19429829 2009
CUI: C4551804
Disease: Brugada Syndrome 1
Brugada Syndrome 1 		0.300 Biomarker disease CLINGEN Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 Biomarker disease HPO