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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 |
|---|---|---|---|---|---|
| C0009782 | Connective Tissue Diseases | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C1621958 | Glioblastoma Multiforme | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0011981 | Diaphragmatic Eventration | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0017638 | Glioma | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0024299 | Lymphoma | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C1306459 | Primary malignant neoplasm | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0546837 | Malignant neoplasm of esophagus | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C3279947 | NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0027092 | Myopia | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0020676 | Hypothyroidism | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0036439 | Scoliosis, unspecified | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0014527 | Epidermolysis Bullosa | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0017636 | Glioblastoma | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0006826 | Malignant Neoplasms | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0268524 | gamma-Glutamyltransferase deficiency | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0079298 | Epidermolysis Bullosa Simplex | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C2239176 | Liver carcinoma | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0268579 | Propionic acidemia | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0013336 | Dwarfism | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0013595 | Eczema | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0025517 | Metabolic Diseases | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0030305 | Pancreatitis | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0878544 | Cardiomyopathies | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C3714756 | Intellectual Disability | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
