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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 |
|---|---|---|---|---|---|
| C0002875 | Cooley's anemia | OGA | 10724 | O-GlcNAcase | O60502 |
| C0002875 | Cooley's anemia | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0002875 | Cooley's anemia | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0002875 | Cooley's anemia | PC | 5091 | pyruvate carboxylase | P11498 |
| C0002875 | Cooley's anemia | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0002875 | Cooley's anemia | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0002875 | Cooley's anemia | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0002875 | Cooley's anemia | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0002875 | Cooley's anemia | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0002875 | Cooley's anemia | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0002875 | Cooley's anemia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0002875 | Cooley's anemia | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0002875 | Cooley's anemia | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0002875 | Cooley's anemia | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C0002875 | Cooley's anemia | UMPS | 7372 | uridine monophosphate synthetase | P11172 |
| C0002875 | Cooley's anemia | CD38 | 952 | CD38 molecule | P28907 |
| C0002875 | Cooley's anemia | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0002875 | Cooley's anemia | LPCAT3 | 10162 | lysophosphatidylcholine acyltransferase 3 | Q6P1A2 |
| C0002875 | Cooley's anemia | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0002875 | Cooley's anemia | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0002875 | Cooley's anemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0002875 | Cooley's anemia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0002875 | Cooley's anemia | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0002875 | Cooley's anemia | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0002875 | Cooley's anemia | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
