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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 |
|---|---|---|---|---|---|
| C0346255 | Oncocytoma, renal | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346255 | Oncocytoma, renal | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0346300 | Pituitary carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0346302 | Growth Hormone-Secreting Pituitary Adenoma | KL | 9365 | klotho | Q9UEF7 |
| C0346302 | Growth Hormone-Secreting Pituitary Adenoma | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0346302 | Growth Hormone-Secreting Pituitary Adenoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0346326 | Optic Nerve Glioma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0346326 | Optic Nerve Glioma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0346326 | Optic Nerve Glioma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346326 | Optic Nerve Glioma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0346326 | Optic Nerve Glioma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0346360 | Malignant melanoma of conjunctiva | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0346360 | Malignant melanoma of conjunctiva | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346360 | Malignant melanoma of conjunctiva | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0346360 | Malignant melanoma of conjunctiva | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0346360 | Malignant melanoma of conjunctiva | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0346360 | Malignant melanoma of conjunctiva | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0346388 | Malignant melanoma of choroid | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0346388 | Malignant melanoma of choroid | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0346388 | Malignant melanoma of choroid | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0346388 | Malignant melanoma of choroid | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0346402 | Malignant neoplasm of adrenal cortex | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0346402 | Malignant neoplasm of adrenal cortex | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0346421 | Chronic eosinophilic leukemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0346421 | Chronic eosinophilic leukemia | CEL | 1056 | carboxyl ester lipase | P19835 |
