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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 |
|---|---|---|---|---|---|
| C0086649 | MPS III C | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0015306 | Hereditary Multiple Exostoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0086649 | MPS III C | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0086647 | Mucopolysaccharidosis Type IIIA | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C1561643 | Chronic Kidney Diseases | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0029454 | Osteopetrosis | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0027651 | Neoplasms | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0026703 | Mucopolysaccharidoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0027651 | Neoplasms | EXTL1 | 2134 | exostosin like glycosyltransferase 1 | Q92935 |
| C0027819 | Neuroblastoma | EXTL1 | 2134 | exostosin like glycosyltransferase 1 | Q92935 |
| C0006826 | Malignant Neoplasms | EXTL1 | 2134 | exostosin like glycosyltransferase 1 | Q92935 |
| C0700095 | Central neuroblastoma | EXTL1 | 2134 | exostosin like glycosyltransferase 1 | Q92935 |
| C1306459 | Primary malignant neoplasm | EXTL1 | 2134 | exostosin like glycosyltransferase 1 | Q92935 |
| C1851413 | EXOSTOSES, MULTIPLE, TYPE II | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0015306 | Hereditary Multiple Exostoses | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1868598 | PARIETAL FORAMINA | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0206641 | Osteochondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0027651 | Neoplasms | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1442903 | Exostoses | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0008479 | Chondrosarcoma | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0338451 | Frontotemporal dementia | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0027543 | Avascular necrosis of bone | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C3714756 | Intellectual Disability | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0152441 | Madelung Deformity | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
