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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 |
|---|---|---|---|---|---|
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CD38 | 952 | CD38 molecule | P28907 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PRNP | 5621 | prion protein | P04156 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | SELL | 6402 | selectin L | P14151 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CD1D | 912 | CD1d molecule | P15813 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CD14 | 929 | CD14 molecule | P08571 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CD48 | 962 | CD48 molecule | P09326 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PIGF | 5281 | phosphatidylinositol glycan anchor biosynthesis class F | Q07326 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | BST1 | 683 | bone marrow stromal cell antigen 1 | Q10588 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | PRNP | 5621 | prion protein | F7VJQ1 |
| C1868682 | Paroxysmal kinesigenic choreoathetosis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0235480 | Paroxysmal atrial fibrillation | XXYLT1 | 152002 | xyloside xylosyltransferase 1 | Q8NBI6 |
| C0235480 | Paroxysmal atrial fibrillation | UST | 10090 | uronyl 2-sulfotransferase | Q9Y2C2 |
