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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 | 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 |
| C0002875 | Cooley's anemia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0002875 | Cooley's anemia | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0002875 | Cooley's anemia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0002875 | Cooley's anemia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0751494 | Convulsive Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0751494 | Convulsive Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751494 | Convulsive Seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0751494 | Convulsive Seizures | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0751494 | Convulsive Seizures | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0751494 | Convulsive Seizures | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
