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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 |
|---|---|---|---|---|---|
| C0038379 | Strabismus | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0011849 | Diabetes Mellitus | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0086647 | Mucopolysaccharidosis Type IIIA | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0008479 | Chondrosarcoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0015306 | Hereditary Multiple Exostoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0027651 | Neoplasms | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1531647 | Cerebral ventriculomegaly | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0015302 | External exotoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0005967 | Bone neoplasms | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0678222 | Breast Carcinoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0023003 | Langer-Giedion Syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0036439 | Scoliosis, unspecified | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1442903 | Exostoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0006826 | Malignant Neoplasms | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0149654 | Conduct Disorder | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0005940 | Bone Diseases | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1306459 | Primary malignant neoplasm | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1851413 | EXOSTOSES, MULTIPLE, TYPE II | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0206641 | Osteochondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0007113 | Rectal Carcinoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0019196 | Hepatitis C | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0024143 | Lupus Nephritis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0751606 | Adult Acute Lymphocytic Leukemia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0029463 | Osteosarcoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
