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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 |
|---|---|---|---|---|---|
| C0334580 | Protoplasmic astrocytoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0334580 | Protoplasmic astrocytoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1866398 | Proteus-Like Syndrome (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1866398 | Proteus-Like Syndrome (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0085261 | Proteus Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0085261 | Proteus Syndrome | SELE | 6401 | selectin E | P16581 |
| C0085261 | Proteus Syndrome | SELP | 6403 | selectin P | P16109 |
| C0085261 | Proteus Syndrome | GPC3 | 2719 | glypican 3 | P51654 |
| C0085261 | Proteus Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0085261 | Proteus Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0085261 | Proteus Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0085261 | Proteus Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0033687 | Proteinuria | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0033687 | Proteinuria | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0033687 | Proteinuria | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0033687 | Proteinuria | GLA | 2717 | galactosidase alpha | P06280 |
| C0033687 | Proteinuria | GUSB | 2990 | glucuronidase beta | P08236 |
| C0033687 | Proteinuria | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0033687 | Proteinuria | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0033687 | Proteinuria | HPSE | 10855 | heparanase | Q9Y251 |
| C0033687 | Proteinuria | LYZ | 4069 | lysozyme | P61626 |
| C0033687 | Proteinuria | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0033687 | Proteinuria | SDC1 | 6382 | syndecan 1 | P18827 |
| C0033687 | Proteinuria | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0033687 | Proteinuria | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
