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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 |
|---|---|---|---|---|---|
| C1260873 | Aortic valve disorder | STS | 412 | steroid sulfatase | P08842 |
| C1260873 | Aortic valve disorder | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1260873 | Aortic valve disorder | PLPP3 | 8613 | phospholipid phosphatase 3 | O14495 |
| C1260873 | Aortic valve disorder | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C1260880 | Rhinorrhea | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1260881 | Allergic bronchitis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1260881 | Allergic bronchitis | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C1260881 | Allergic bronchitis | PLA2G10 | 8399 | phospholipase A2 group X | O15496 |
| C1260881 | Allergic bronchitis | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C1260881 | Allergic bronchitis | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C1260899 | Anemia, Diamond-Blackfan | CD38 | 952 | CD38 molecule | P28907 |
| C1261470 | Congenital meningocele | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C1261470 | Congenital meningocele | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1261470 | Congenital meningocele | FKTN | 2218 | fukutin | O75072 |
| C1261470 | Congenital meningocele | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1261470 | Congenital meningocele | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C1261470 | Congenital meningocele | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1261470 | Congenital meningocele | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1261470 | Congenital meningocele | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1261470 | Congenital meningocele | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C1261470 | Congenital meningocele | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1261473 | Sarcoma | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C1261473 | Sarcoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1261473 | Sarcoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1261473 | Sarcoma | OGA | 10724 | O-GlcNAcase | O60502 |
