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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 | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0028738 | Nystagmus | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0017661 | IGA Glomerulonephritis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0025958 | Microcephaly | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0027651 | Neoplasms | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0235946 | Cerebral atrophy | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020676 | Hypothyroidism | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020758 | Congenital ichthyosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0003873 | Rheumatoid Arthritis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C3714636 | Pneumonitis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C1306459 | Primary malignant neoplasm | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0678222 | Breast Carcinoma | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0029408 | Degenerative polyarthritis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0014175 | Endometriosis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0002395 | Alzheimer's Disease | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0027651 | Neoplasms | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0003864 | Arthritis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0007131 | Non-Small Cell Lung Carcinoma | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0376358 | Malignant neoplasm of prostate | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0027819 | Neuroblastoma | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0006111 | Brain Diseases | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0006826 | Malignant Neoplasms | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C1332206 | Adult Lymphoma | PTGES | 9536 | prostaglandin E synthase | O14684 |
