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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 |
|---|---|---|---|---|---|
| C0014518 | Toxic Epidermal Necrolysis | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0014518 | Toxic Epidermal Necrolysis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0014518 | Toxic Epidermal Necrolysis | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
| C0014511 | Epithelial cyst | SDC1 | 6382 | syndecan 1 | P18827 |
| C0014511 | Epithelial cyst | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0014511 | Epithelial cyst | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0014511 | Epithelial cyst | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0014493 | Epidemic keratoconjunctivitis | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
| C0014474 | Ependymoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014474 | Ependymoma | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0014474 | Ependymoma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0014474 | Ependymoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0014474 | Ependymoma | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0014474 | Ependymoma | CALR | 811 | calreticulin | P27797 |
| C0014474 | Ependymoma | CD38 | 952 | CD38 molecule | P28907 |
| C0014474 | Ependymoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0014474 | Ependymoma | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0014474 | Ependymoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0014474 | Ependymoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0014474 | Ependymoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0014474 | Ependymoma | TDG | 6996 | thymine DNA glycosylase | Q13569 |
| C0014474 | Ependymoma | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0014474 | Ependymoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0014474 | Ependymoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0014474 | Ependymoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
