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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 |
|---|---|---|---|---|---|
| C0023267 | Fibroid Tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0023267 | Fibroid Tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0023267 | Fibroid Tumor | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0023267 | Fibroid Tumor | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0023264 | Leigh Disease | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0023264 | Leigh Disease | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0023264 | Leigh Disease | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C0023264 | Leigh Disease | GYG2 | 8908 | glycogenin 2 | O15488 |
| C0023264 | Leigh Disease | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0023264 | Leigh Disease | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0023264 | Leigh Disease | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0023264 | Leigh Disease | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0023264 | Leigh Disease | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0023264 | Leigh Disease | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0023264 | Leigh Disease | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0023264 | Leigh Disease | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0023264 | Leigh Disease | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0023264 | Leigh Disease | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0023264 | Leigh Disease | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0023264 | Leigh Disease | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0023264 | Leigh Disease | TKT | 7086 | transketolase | P29401 |
| C0023264 | Leigh Disease | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0023240 | Legionellosis | PIKFYVE | 200576 | phosphoinositide kinase, FYVE-type zinc finger containing | Q9Y2I7 |
| C0023240 | Legionellosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0023234 | Legg-Calve-Perthes Disease | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
