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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 ▼ |
|---|---|---|---|---|---|
| C0027651 | Neoplasms | COG3 | 83548 | component of oligomeric golgi complex 3 | Q96JB2 |
| C0006142 | Malignant neoplasm of breast | COG3 | 83548 | component of oligomeric golgi complex 3 | Q96JB2 |
| C0699790 | Colon Carcinoma | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C1458155 | Mammary Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0007102 | Malignant tumor of colon | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0006142 | Malignant neoplasm of breast | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0006826 | Malignant Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0017638 | Glioma | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C1306459 | Primary malignant neoplasm | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0027651 | Neoplasms | PLEKHA8 | 84725 | pleckstrin homology domain containing A8 | Q96JA3 |
| C0235946 | Cerebral atrophy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0026650 | Movement Disorders | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C3808991 | NGLY1 deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0008489 | Chorea | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0235991 | Small for gestational age (disorder) | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0036572 | Seizures | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0037769 | West Syndrome | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0270820 | Gelastic Epilepsy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0027066 | Myoclonus | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C1531647 | Cerebral ventriculomegaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0027651 | Neoplasms | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0010038 | Corneal Opacity | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0442874 | Neuropathy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0025202 | melanoma | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0010043 | Corneal Ulcer | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
