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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0004509 | Azoospermia | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1399226 | Ectopic rhythm | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0020538 | Hypertensive disease | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1865020 | Short QT Syndrome 1 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0003811 | Cardiac Arrhythmia | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0006826 | Malignant Neoplasms | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C3714756 | Intellectual Disability | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0041696 | Unipolar Depression | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0009375 | Colonic Neoplasms | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0024591 | Malignant hyperpyrexia due to anesthesia | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0023467 | Leukemia, Myelocytic, Acute | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0007102 | Malignant tumor of colon | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0004245 | Atrioventricular Block | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0175702 | Williams Syndrome | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C2239176 | Liver carcinoma | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0220633 | Uveal melanoma | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0018790 | Cardiac Arrest | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0018784 | Sensorineural Hearing Loss (disorder) | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0036572 | Seizures | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0282577 | Congenital Disorders of Glycosylation | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0005744 | Blepharophimosis | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C1367554 | Adamantinoma | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C1853736 | Congenital Disorder Of Glycosylation, Type IIB | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
