Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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: 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 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 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 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval 		0.400 Biomarker phenotype GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval 		0.400 Biomarker phenotype HPO
CUI: C0030193
Disease: Pain
Pain 		0.310 AlteredExpression phenotype BEFREE Here, we show that Cacna2d1 overexpression potentiates presynaptic and postsynaptic NMDAR activity of spinal dorsal horn neurons to cause pain hypersensitivity. 29490268 2018
CUI: C0030193
Disease: Pain
Pain 		0.310 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: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		0.300 Biomarker phenotype CLINGEN Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
CUI: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		0.300 Biomarker phenotype CLINGEN Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (disorder) 		0.300 Biomarker disease 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 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 Functional characterization of CaVα2δ mutations associated with sudden cardiac death. 25527503 2015
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: 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: C0011071
Disease: Sudden death
Sudden death 		0.300 Biomarker phenotype GENOMICS_ENGLAND Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. 24440382 2014
CUI: C0264893
Disease: Nodal rhythm disorder
Nodal rhythm disorder 		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: C0348626
Disease: Other specified cardiac arrhythmias
Other specified cardiac arrhythmias 		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: C0428908
Disease: Sinus Node Dysfunction (disorder)
Sinus Node Dysfunction (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: 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