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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 |
|---|---|---|---|---|---|
| C0015230 | Exanthema | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0015230 | Exanthema | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0015230 | Exanthema | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0015230 | Exanthema | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0015230 | Exanthema | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0015230 | Exanthema | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0015230 | Exanthema | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0015230 | Exanthema | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0015230 | Exanthema | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0015230 | Exanthema | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0015230 | Exanthema | KDSR | 2531 | 3-ketodihydrosphingosine reductase | Q06136 |
| C0015230 | Exanthema | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0015230 | Exanthema | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0015230 | Exanthema | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0015230 | Exanthema | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0015230 | Exanthema | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0015230 | Exanthema | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C0015300 | Exophthalmos | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0015300 | Exophthalmos | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0015300 | Exophthalmos | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0015300 | Exophthalmos | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0015300 | Exophthalmos | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0015300 | Exophthalmos | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0015300 | Exophthalmos | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0015300 | Exophthalmos | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
