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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 |
|---|---|---|---|---|---|
| C0040034 | Thrombocytopenia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0040034 | Thrombocytopenia | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0040034 | Thrombocytopenia | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0040034 | Thrombocytopenia | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0040034 | Thrombocytopenia | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0040034 | Thrombocytopenia | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0040034 | Thrombocytopenia | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0040034 | Thrombocytopenia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0040034 | Thrombocytopenia | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0040034 | Thrombocytopenia | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0040034 | Thrombocytopenia | PSAP | 5660 | prosaposin | P07602 |
| C0040034 | Thrombocytopenia | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0040034 | Thrombocytopenia | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C0040034 | Thrombocytopenia | HPSE | 10855 | heparanase | Q9Y251 |
| C0040034 | Thrombocytopenia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0040034 | Thrombocytopenia | STT3B | 201595 | STT3 oligosaccharyltransferase complex catalytic subunit B | Q8TCJ2 |
| C0040034 | Thrombocytopenia | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0040034 | Thrombocytopenia | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0040034 | Thrombocytopenia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0040034 | Thrombocytopenia | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0040034 | Thrombocytopenia | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0040034 | Thrombocytopenia | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0040034 | Thrombocytopenia | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0040034 | Thrombocytopenia | CD209 | 30835 | CD209 molecule | Q9NNX6 |
| C0040034 | Thrombocytopenia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
