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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 |
|---|---|---|---|---|---|
| C0006118 | Brain Neoplasms | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0017601 | Glaucoma | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0007134 | Renal Cell Carcinoma | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0699790 | Colon Carcinoma | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0028077 | Nyctalopia | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0018784 | Sensorineural Hearing Loss (disorder) | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0028738 | Nystagmus | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0348626 | Other specified cardiac arrhythmias | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1269683 | Major Depressive Disorder | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0037052 | Sick Sinus Syndrome | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C2931783 | Amelogenesis imperfecta nephrocalcinosis | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1142166 | Brugada Syndrome (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0264893 | Nodal rhythm disorder | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0014544 | Epilepsy | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0024623 | Malignant neoplasm of stomach | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0339573 | Glaucoma, Primary Open Angle | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C4551804 | Brugada Syndrome 1 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0428908 | Sinus Node Dysfunction (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0037769 | West Syndrome | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1306459 | Primary malignant neoplasm | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0004238 | Atrial Fibrillation | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0017601 | Glaucoma | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C2748542 | CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
