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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 |
|---|---|---|---|---|---|
| C0205710 | Alpers Syndrome (disorder) | PRNP | 5621 | prion protein | F7VJQ1 |
| C1306600 | Radial nerve palsy | PRNP | 5621 | prion protein | F7VJQ1 |
| C1708349 | Hereditary Diffuse Gastric Cancer | PRNP | 5621 | prion protein | F7VJQ1 |
| C1854520 | SEBASTIAN SYNDROME | PRNP | 5621 | prion protein | F7VJQ1 |
| C0017601 | Glaucoma | PRNP | 5621 | prion protein | F7VJQ1 |
| C0001889 | Akinetic Mutism | PRNP | 5621 | prion protein | F7VJQ1 |
| C0002895 | Anemia, Sickle Cell | PRNP | 5621 | prion protein | F7VJQ1 |
| C0027051 | Myocardial Infarction | PRNP | 5621 | prion protein | F7VJQ1 |
| C0028738 | Nystagmus | PRNP | 5621 | prion protein | F7VJQ1 |
| C0038454 | Cerebrovascular accident | PRNP | 5621 | prion protein | F7VJQ1 |
| C1332986 | Childhood Osteosarcoma | PRNP | 5621 | prion protein | F7VJQ1 |
| C0162311 | Androgenetic Alopecia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0017609 | Glaucoma, Neovascular | PRNP | 5621 | prion protein | F7VJQ1 |
| C0009806 | Constipation | PRNP | 5621 | prion protein | F7VJQ1 |
| C1969957 | Creutzfeldt-Jakob Disease, Heidenhain Variant | PRNP | 5621 | prion protein | F7VJQ1 |
| C0002170 | Alopecia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751772 | REM Sleep Behavior Disorder | PRNP | 5621 | prion protein | F7VJQ1 |
| C4083212 | Alopecia, Male Pattern | PRNP | 5621 | prion protein | F7VJQ1 |
| C0027651 | Neoplasms | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0684249 | Carcinoma of lung | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0009081 | Congenital clubfoot | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0015934 | Fetal Growth Retardation | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0242379 | Malignant neoplasm of lung | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0086543 | Cataract | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C1384666 | hearing impairment | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
