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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 |
|---|---|---|---|---|---|
| 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 |
| C0023895 | Liver diseases | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0086647 | Mucopolysaccharidosis Type IIIA | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0023903 | Liver neoplasms | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004352 | Autistic Disorder | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0025958 | Microcephaly | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0037926 | Compression of spinal cord | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0014544 | Epilepsy | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0023234 | Legg-Calve-Perthes Disease | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0036572 | Seizures | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0026764 | Multiple Myeloma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
