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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 |
|---|---|---|---|---|---|
| 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 |
| C0699791 | Stomach Carcinoma | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0029456 | Osteoporosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0006826 | Malignant Neoplasms | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0029124 | Optic Atrophy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0017154 | Gastritis, Atrophic | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C1306459 | Primary malignant neoplasm | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0035334 | Retinitis Pigmentosa | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C4316812 | Fibrinogen Deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0152025 | Polyneuropathy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0271270 | Oculovestibuloauditory syndrome | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0085109 | Corneal Neovascularization | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0036439 | Scoliosis, unspecified | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0038379 | Strabismus | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0015310 | Exotropia | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0005745 | Blepharoptosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0221356 | Brachycephaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
