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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 |
|---|---|---|---|---|---|
| C0017536 | Giardiasis | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0017536 | Giardiasis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0017536 | Giardiasis | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C0017536 | Giardiasis | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0017536 | Giardiasis | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0017536 | Giardiasis | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0017536 | Giardiasis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0017536 | Giardiasis | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0017536 | Giardiasis | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0017536 | Giardiasis | UPP1 | 7378 | uridine phosphorylase 1 | Q16831 |
| C0017536 | Giardiasis | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0017531 | Angiolymphoid hyperplasia | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0017531 | Angiolymphoid hyperplasia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0017531 | Angiolymphoid hyperplasia | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0017531 | Angiolymphoid hyperplasia | CD48 | 962 | CD48 molecule | P09326 |
| C0017525 | Giant Cell Tumors | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0017525 | Giant Cell Tumors | EFNA1 | 1942 | ephrin A1 | P20827 |
| C0017525 | Giant Cell Tumors | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | PYGL | 5836 | glycogen phosphorylase L | P06737 |
| C0017495 | Gerstmann-Straussler-Scheinker Disease | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
