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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 |
|---|---|---|---|---|---|
| C1136033 | Cutaneous Mastocytosis | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C1136033 | Cutaneous Mastocytosis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1136033 | Cutaneous Mastocytosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1136033 | Cutaneous Mastocytosis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1136033 | Cutaneous Mastocytosis | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0346067 | Cutaneous Leiomyosarcoma | FH | 2271 | fumarate hydratase | P07954 |
| C0006846 | Cutaneous Candidiasis | PSAP | 5660 | prosaposin | P07602 |
| 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 |
| 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 |
