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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 |
|---|---|---|---|---|---|
| C0007113 | Rectal Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0007113 | Rectal Carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0007113 | Rectal Carcinoma | TKT | 7086 | transketolase | P29401 |
| C0007113 | Rectal Carcinoma | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0271710 | Reactive hypoglycemia | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0034735 | Raynaud Phenomenon | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0034735 | Raynaud Phenomenon | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0034735 | Raynaud Phenomenon | ANXA5 | 308 | annexin A5 | P08758 |
| C0034735 | Raynaud Phenomenon | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0034735 | Raynaud Phenomenon | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0393484 | Rasmussen Syndrome | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0221239 | Rapidly progressive glomerulonephritis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0221239 | Rapidly progressive glomerulonephritis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0221239 | Rapidly progressive glomerulonephritis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C2242813 | Ranula (disorder) | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C2930865 | Ramer Ladda syndrome | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0158761 | Radioulnar Synostosis | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0158761 | Radioulnar Synostosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0158761 | Radioulnar Synostosis | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0158761 | Radioulnar Synostosis | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0158761 | Radioulnar Synostosis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0158761 | Radioulnar Synostosis | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0158761 | Radioulnar Synostosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0158761 | Radioulnar Synostosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0700594 | Radiculopathy | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
