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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 |
|---|---|---|---|---|---|
| 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 |
| C0019158 | Hepatitis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0231528 | Myalgia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0019159 | Hepatitis A | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0231341 | Premature aging syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0020492 | Hyperostosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1332977 | Childhood Leukemia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0403396 | Steroid-sensitive nephrotic syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0745103 | Hyperlipoproteinemia Type IIa | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0008441 | Chondroblastoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004364 | Autoimmune Diseases | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C2239176 | Liver carcinoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0014084 | Enchondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0003873 | Rheumatoid Arthritis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0151311 | Cranial nerve palsies | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0038165 | Staphylococcal Scalded Skin Syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
