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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 |
|---|---|---|---|---|---|
| C0002986 | Fabry Disease | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0007222 | Cardiovascular Diseases | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0027868 | Neuromuscular Diseases | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0023418 | leukemia | SIGLEC10 | 89790 | sialic acid binding Ig like lectin 10 | Q96LC7 |
| C0027651 | Neoplasms | SIGLEC10 | 89790 | sialic acid binding Ig like lectin 10 | Q96LC7 |
| C0079731 | B-Cell Lymphomas | SIGLEC10 | 89790 | sialic acid binding Ig like lectin 10 | Q96LC7 |
| C1332977 | Childhood Leukemia | SIGLEC10 | 89790 | sialic acid binding Ig like lectin 10 | Q96LC7 |
| 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 |
| 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 |
