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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 |
|---|---|---|---|---|---|
| C0005940 | Bone Diseases | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0036572 | Seizures | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0520947 | Clumsiness - motor delay | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0038273 | Stereotypic Movement Disorder | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0028738 | Nystagmus | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1319315 | Adenocarcinoma of large intestine | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0410530 | Metachondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0236642 | Pick Disease of the Brain | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0017665 | Membranous glomerulonephritis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0020492 | Hyperostosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0005967 | Bone neoplasms | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0878681 | Dent's disease | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0014084 | Enchondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0016202 | Flatfoot | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0000768 | Congenital Abnormality | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0678222 | Breast Carcinoma | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0018818 | Ventricular Septal Defects | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0020445 | Hypercholesterolemia, Familial | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0029463 | Osteosarcoma | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0025958 | Microcephaly | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0010417 | Cryptorchidism | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0017168 | Gastroesophageal reflux disease | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0036439 | Scoliosis, unspecified | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0151311 | Cranial nerve palsies | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0002871 | Anemia | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
