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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 |
|---|---|---|---|---|---|
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PC | 5091 | pyruvate carboxylase | P11498 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | CD14 | 929 | CD14 molecule | P08571 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1838244 | TIBIAL MUSCULAR DYSTROPHY, TARDIVE | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C4225426 | THYROID CANCER, NONMEDULLARY, 2 | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C4225426 | THYROID CANCER, NONMEDULLARY, 2 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1839163 | THROMBOCYTOPENIA 1 (disorder) | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1839163 | THROMBOCYTOPENIA 1 (disorder) | CAT | 847 | catalase | P04040 |
| C3277671 | THROMBOCYTHEMIA 1 | CALR | 811 | calreticulin | P27797 |
| C1868678 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | CD38 | 952 | CD38 molecule | P28907 |
| C1868678 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1868678 | THANATOPHORIC DYSPLASIA, TYPE I (disorder) | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1861305 | TARSAL-CARPAL COALITION SYNDROME | TNKS | 8658 | tankyrase | O95271 |
