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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 |
|---|---|---|---|---|---|
| C0393698 | Cryptogenic Infantile Spasms | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0010403 | Cryoglobulinemia | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0010380 | Croup | CD14 | 929 | CD14 molecule | P08571 |
| C1868112 | Crossed Polydactyly, Type I | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1868112 | Crossed Polydactyly, Type I | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0282207 | Cronkhite-Canada Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0267380 | Crohn's disease of the ileum | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0267380 | Crohn's disease of the ileum | LYZ | 4069 | lysozyme | P61626 |
| C0267380 | Crohn's disease of the ileum | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0267380 | Crohn's disease of the ileum | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C0267380 | Crohn's disease of the ileum | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0267380 | Crohn's disease of the ileum | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0156147 | Crohn's disease of large bowel | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0156147 | Crohn's disease of large bowel | LYZ | 4069 | lysozyme | P61626 |
| C0156147 | Crohn's disease of large bowel | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0156147 | Crohn's disease of large bowel | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0156147 | Crohn's disease of large bowel | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0156147 | Crohn's disease of large bowel | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0156147 | Crohn's disease of large bowel | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0010346 | Crohn Disease | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
| C0010346 | Crohn Disease | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0010346 | Crohn Disease | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0010346 | Crohn Disease | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0010346 | Crohn Disease | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0010346 | Crohn Disease | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
