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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 |
|---|---|---|---|---|---|
| C0238463 | Papillary thyroid carcinoma | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0021390 | Inflammatory Bowel Diseases | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0022658 | Kidney Diseases | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0235974 | Pancreatic carcinoma | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0031099 | Periodontitis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0566602 | Primary sclerosing cholangitis | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0524851 | Neurodegenerative Disorders | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0917996 | Cerebral Aneurysm | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0221356 | Brachycephaly | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1836669 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0282577 | Congenital Disorders of Glycosylation | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0020757 | Ichthyoses | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0042798 | Low Vision | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0870082 | Hyperkeratosis | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C0038379 | Strabismus | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C4317224 | Congenital disorder of glycosylation type 1q | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| 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 |
