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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 |
|---|---|---|---|---|---|
| C0206656 | Embryonal Rhabdomyosarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0206656 | Embryonal Rhabdomyosarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206656 | Embryonal Rhabdomyosarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0206656 | Embryonal Rhabdomyosarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0206656 | Embryonal Rhabdomyosarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0027654 | Embryonal Neoplasm | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0027654 | Embryonal Neoplasm | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0027654 | Embryonal Neoplasm | GPC3 | 2719 | glypican 3 | P51654 |
| C0027654 | Embryonal Neoplasm | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027654 | Embryonal Neoplasm | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0027654 | Embryonal Neoplasm | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0206659 | Embryonal Carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0206659 | Embryonal Carcinoma | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0206659 | Embryonal Carcinoma | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0206659 | Embryonal Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0013902 | Elliptocytosis, Hereditary | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0013902 | Elliptocytosis, Hereditary | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0013902 | Elliptocytosis, Hereditary | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0013902 | Elliptocytosis, Hereditary | CAT | 847 | catalase | P04040 |
| C0427480 | Elliptocytosis found | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0410180 | Eichsfeld type congenital muscular dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0085399 | Ehrlichiosis | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C4551497 | Ehlers-Danlos syndrome kyphoscoliotic type | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0013720 | Ehlers-Danlos Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
