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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 |
|---|---|---|---|---|---|
| C0936248 | Chondroma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0085660 | Aseptic necrosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0029456 | Osteoporosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C3489396 | Hypogonadism, Isolated Hypogonadotropic | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1861172 | Venous Thromboembolism | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0023418 | leukemia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0027726 | Nephrotic Syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0751356 | Idiopathic Inflammatory Myopathies | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0085293 | Hepatitis E | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0206708 | Cervical Intraepithelial Neoplasia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004114 | Astrocytoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0003431 | Antisocial Personality Disorder | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0023449 | Acute lymphocytic leukemia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0023452 | Childhood Acute Lymphoblastic Leukemia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1168401 | Squamous cell carcinoma of the head and neck | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0001418 | Adenocarcinoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0025362 | Mental Retardation | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0236642 | Pick Disease of the Brain | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C3714756 | Intellectual Disability | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1510586 | Autism Spectrum Disorders | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0029455 | Osteopoikilosis (disorder) | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C3553517 | CORNELIA DE LANGE SYNDROME 4 | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004936 | Mental disorders | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0238111 | Lennox-Gastaut syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
