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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 |
|---|---|---|---|---|---|
| C0010346 | Crohn Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0010346 | Crohn Disease | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0010346 | Crohn Disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0010346 | Crohn Disease | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0010346 | Crohn Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0010346 | Crohn Disease | REG1B | 5968 | regenerating family member 1 beta | P48304 |
| C0010346 | Crohn Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C0010346 | Crohn Disease | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0010346 | Crohn Disease | TKT | 7086 | transketolase | P29401 |
| C0010346 | Crohn Disease | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0010346 | Crohn Disease | MTMR3 | 8897 | myotubularin related protein 3 | Q13615 |
| C0010346 | Crohn Disease | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGGT1 | 56886 | UDP-glucose glycoprotein glucosyltransferase 1 | Q9NYU2 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A8 | 54576 | UDP glucuronosyltransferase family 1 member A8 | Q9HAW9 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A6 | 54578 | UDP glucuronosyltransferase family 1 member A6 | P19224 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A5 | 54579 | UDP glucuronosyltransferase family 1 member A5 | P35504 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
| C0010324 | Crigler Najjar syndrome, type 1 | UGT1A3 | 54659 | UDP glucuronosyltransferase family 1 member A3 | P35503 |
| C0010324 | Crigler Najjar syndrome, type 1 | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0010314 | Cri-du-Chat Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0010314 | Cri-du-Chat Syndrome | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
