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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 |
|---|---|---|---|---|---|
| C1857276 | Trichohepatoenteric Syndrome | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1857276 | Trichohepatoenteric Syndrome | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C1857276 | Trichohepatoenteric Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1857276 | Trichohepatoenteric Syndrome | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1857276 | Trichohepatoenteric Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C1857276 | Trichohepatoenteric Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1857276 | Trichohepatoenteric Syndrome | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1857276 | Trichohepatoenteric Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1857276 | Trichohepatoenteric Syndrome | TKT | 7086 | transketolase | P29401 |
| C1857355 | Leigh syndrome , French Canadian type | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1857388 | Cystinuria, Type A | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1857389 | Cystinuria, Type B | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1857663 | Yunis Varon syndrome | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1857747 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1857941 | Brooke-Spiegler syndrome | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C1857941 | Brooke-Spiegler syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1858080 | Retinal Dystrophy, Early Onset Severe | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1858142 | ICHTHYOSIS, LAMELLAR, 3 | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
