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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 |
|---|---|---|---|---|---|
| C0010481 | Cushing Syndrome | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0010481 | Cushing Syndrome | FASN | 2194 | fatty acid synthase | P49327 |
| C0010481 | Cushing Syndrome | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0010481 | Cushing Syndrome | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0010474 | Curling Ulcer | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0010474 | Curling Ulcer | ACO1 | 48 | aconitase 1 | P21399 |
| C0010474 | Curling Ulcer | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0010474 | Curling Ulcer | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0010418 | Cryptosporidiosis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0010418 | Cryptosporidiosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0010418 | Cryptosporidiosis | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0010418 | Cryptosporidiosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0010418 | Cryptosporidiosis | PTGES3 | 10728 | prostaglandin E synthase 3 | Q15185 |
| C0010418 | Cryptosporidiosis | UNG | 7374 | uracil DNA glycosylase | P13051 |
| C0010417 | Cryptorchidism | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0010417 | Cryptorchidism | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010417 | Cryptorchidism | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0010417 | Cryptorchidism | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0010417 | Cryptorchidism | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0010417 | Cryptorchidism | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0010417 | Cryptorchidism | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0010417 | Cryptorchidism | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0010417 | Cryptorchidism | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0010417 | Cryptorchidism | FKTN | 2218 | fukutin | O75072 |
| C0010417 | Cryptorchidism | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
