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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 |
|---|---|---|---|---|---|
| C0010417 | Cryptorchidism | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0010417 | Cryptorchidism | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0010417 | Cryptorchidism | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0010417 | Cryptorchidism | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| 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 |
| 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 |
| C0010481 | Cushing Syndrome | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0010481 | Cushing Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0010481 | Cushing Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0010481 | Cushing Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0010481 | Cushing Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0010481 | Cushing Syndrome | FH | 2271 | fumarate hydratase | P07954 |
| C0010481 | Cushing Syndrome | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0010481 | Cushing Syndrome | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0010481 | Cushing Syndrome | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0010481 | Cushing Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0010481 | Cushing Syndrome | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
