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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 |
|---|---|---|---|---|---|
| C0024054 | Lown-Ganong-Levine Syndrome | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0024054 | Lown-Ganong-Levine Syndrome | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0023976 | Long QT Syndrome | ALG10 | 84920 | ALG10 alpha-1,2-glucosyltransferase | Q5BKT4 |
| C0023976 | Long QT Syndrome | ALG10B | 144245 | ALG10 alpha-1,2-glucosyltransferase B | Q5I7T1 |
| C0023976 | Long QT Syndrome | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0023976 | Long QT Syndrome | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0023976 | Long QT Syndrome | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | Q96GR2 |
| C0023976 | Long QT Syndrome | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0023976 | Long QT Syndrome | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0023976 | Long QT Syndrome | SLC2A5 | 6518 | solute carrier family 2 member 5 | P22732 |
| C0023976 | Long QT Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0023976 | Long QT Syndrome | SQLE | 6713 | squalene epoxidase | Q14534 |
| C0023931 | Lobstein Disease | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0023903 | Liver neoplasms | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0023903 | Liver neoplasms | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0023903 | Liver neoplasms | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0023903 | Liver neoplasms | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0023903 | Liver neoplasms | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0023903 | Liver neoplasms | MGAT3 | 4248 | beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase | Q09327 |
| C0023903 | Liver neoplasms | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0023903 | Liver neoplasms | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0023903 | Liver neoplasms | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0023903 | Liver neoplasms | GUSB | 2990 | glucuronidase beta | P08236 |
| C0023903 | Liver neoplasms | PSAP | 5660 | prosaposin | P07602 |
| C0023903 | Liver neoplasms | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
