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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 |
|---|---|---|---|---|---|
| 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 |
| C0520679 | Sleep Apnea, Obstructive | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0031117 | Peripheral Neuropathy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0025958 | Microcephaly | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0002736 | Amyotrophic Lateral Sclerosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0003028 | Anhidrosis | 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 |
| C0009324 | Ulcerative Colitis | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
