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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 |
|---|---|---|---|---|---|
| C0029124 | Optic Atrophy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0017154 | Gastritis, Atrophic | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0025202 | melanoma | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0152025 | Polyneuropathy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0024623 | Malignant neoplasm of stomach | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0398625 | Protein C Deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0006826 | Malignant Neoplasms | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0442874 | Neuropathy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0015310 | Exotropia | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0037769 | West Syndrome | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C3808991 | NGLY1 deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0003028 | Anhidrosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0027651 | Neoplasms | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0520679 | Sleep Apnea, Obstructive | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0235946 | Cerebral atrophy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0029456 | Osteoporosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0235991 | Small for gestational age (disorder) | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0010038 | Corneal Opacity | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0002736 | Amyotrophic Lateral Sclerosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0271270 | Oculovestibuloauditory syndrome | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0026650 | Movement Disorders | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0027066 | Myoclonus | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0035334 | Retinitis Pigmentosa | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0005745 | Blepharoptosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0018802 | Congestive heart failure | NPL | 80896 | N-acetylneuraminate pyruvate lyase | Q9BXD5 |
