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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 |
|---|---|---|---|---|---|
| C0042345 | Varicosity | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C0042345 | Varicosity | CALR | 811 | calreticulin | P27797 |
| C0042345 | Varicosity | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0042345 | Varicosity | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0042345 | Varicosity | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0042345 | Varicosity | STS | 412 | steroid sulfatase | P08842 |
| C0042345 | Varicosity | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0042345 | Varicosity | SELE | 6401 | selectin E | P16581 |
| C0042345 | Varicosity | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0042345 | Varicosity | CYP4A11 | 1579 | cytochrome P450 family 4 subfamily A member 11 | Q02928 |
| C0042345 | Varicosity | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0042345 | Varicosity | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0042341 | Varicocele | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0042341 | Varicocele | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0042341 | Varicocele | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0042341 | Varicocele | LYPD5 | 284348 | LY6/PLAUR domain containing 5 | Q6UWN5 |
| C0042341 | Varicocele | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0042341 | Varicocele | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0042341 | Varicocele | CAT | 847 | catalase | P04040 |
| C0042341 | Varicocele | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0042341 | Varicocele | FASN | 2194 | fatty acid synthase | P49327 |
| C0042341 | Varicocele | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0175697 | Van der Woude syndrome | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0175697 | Van der Woude syndrome | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0175697 | Van der Woude syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
