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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 ▲ |
|---|---|---|---|---|---|
| C0011570 | Mental Depression | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0011265 | Presenile dementia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1854466 | Temtamy preaxial brachydactyly syndrome | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0009081 | Congenital clubfoot | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0011813 | Dextrocardia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0497327 | Dementia | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1531647 | Cerebral ventriculomegaly | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0008924 | Cleft upper lip | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0008925 | Cleft Palate | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0013336 | Dwarfism | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1306503 | Congenital exomphalos | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0000768 | Congenital Abnormality | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0010417 | Cryptorchidism | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0018818 | Ventricular Septal Defects | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0036572 | Seizures | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0015934 | Fetal Growth Retardation | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0206620 | Lymphangioma, Cystic | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0036439 | Scoliosis, unspecified | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0027651 | Neoplasms | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0008925 | Cleft Palate | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0238288 | Muscular Dystrophy, Facioscapulohumeral | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0026850 | Muscular Dystrophy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0266544 | Microcornea | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3714756 | Intellectual Disability | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0026010 | Microphthalmos | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
