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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 |
|---|---|---|---|---|---|
| C0020459 | Hyperinsulinism | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0027651 | Neoplasms | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0009398 | Color vision defect | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0007131 | Non-Small Cell Lung Carcinoma | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0027059 | Myocarditis | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| 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 |
| C0268398 | Familial lichen amyloidosis | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0085215 | Ovarian Failure, Premature | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0025322 | Premature Menopause | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0027651 | Neoplasms | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0002994 | Angioedema | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C4552079 | Premature Ovarian Failure 1 | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0007847 | Malignant tumor of cervix | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0302592 | Cervix carcinoma | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0376358 | Malignant neoplasm of prostate | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
