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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
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 |
C0014474 | Ependymoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0014474 | Ependymoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0014493 | Epidemic keratoconjunctivitis | PLD3 | 23646 | phospholipase D family member 3 | Q8IV08 |
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 |
C0014518 | Toxic Epidermal Necrolysis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
C0014518 | Toxic Epidermal Necrolysis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C0014518 | Toxic Epidermal Necrolysis | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
C0014518 | Toxic Epidermal Necrolysis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
C0014518 | Toxic Epidermal Necrolysis | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
C0014518 | Toxic Epidermal Necrolysis | CD33 | 945 | CD33 molecule | P20138 |
C0014518 | Toxic Epidermal Necrolysis | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
C0014518 | Toxic Epidermal Necrolysis | UPP1 | 7378 | uridine phosphorylase 1 | Q16831 |
C0014518 | Toxic Epidermal Necrolysis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
C0014518 | Toxic Epidermal Necrolysis | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
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Last updated: August 19, 2024