Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151879
Disease: Shortened QT interval
Shortened QT interval 		0.400 Biomarker phenotype HPO
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death 		0.110 Biomarker phenotype HPO
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: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.100 Biomarker disease HPO
CUI: C0030252
Disease: Palpitations
Palpitations 		0.100 Biomarker phenotype HPO
CUI: C0030591
Disease: Paroxysmal ventricular tachycardia
Paroxysmal ventricular tachycardia 		0.100 Biomarker disease HPO
CUI: C0037052
Disease: Sick Sinus Syndrome
Sick Sinus Syndrome 		0.100 Biomarker disease HPO
CUI: C0039070
Disease: Syncope
Syncope 		0.100 Biomarker phenotype HPO
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia 		0.100 Biomarker disease HPO
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.100 Biomarker disease HPO
CUI: C0085614
Disease: First degree atrioventricular block
First degree atrioventricular block 		0.100 Biomarker disease HPO
CUI: C0085615
Disease: Right bundle branch block
Right bundle branch block 		0.100 Biomarker disease HPO
CUI: C0155707
Disease: Trifascicular block
Trifascicular block 		0.100 Biomarker disease HPO
CUI: C0428977
Disease: Bradycardia
Bradycardia 		0.100 Biomarker phenotype HPO
CUI: C0520886
Disease: ST segment elevation (finding)
ST segment elevation (finding) 		0.100 Biomarker phenotype HPO
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3715208
Disease: AV Block First Degree by ECG Finding
AV Block First Degree by ECG Finding 		0.100 Biomarker phenotype HPO
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.020 GeneticVariation disease BEFREE The proximity to the WS region of the gene encoding the L-type voltage-gated calcium channel alpha 2/delta-subunit (CACNL2A) on 7q11.23-q21.1, previously shown to be closely linked to some forms of MH susceptibility, prompted us to investigate whether this gene is deleted in WS. 8707301 1996
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.010 GeneticVariation disease BEFREE Linkage studies and fluorescence in situ hybridization analysis demonstrated that the CACNL2A locus is localized outside the WS deleted region. 8707301 1996
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		0.020 Biomarker disease BEFREE CACNA2 encodes the alpha(2)/delta subunit of the human voltage-gated calcium channels and is located in the candidate region of malignant hyperthermia susceptibility type 3 (MHS3). 10534405 1999
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: 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: 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: 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