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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 |
|---|---|---|---|---|---|
| C1266044 | Collecting Duct Carcinoma of the Kidney | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1266044 | Collecting Duct Carcinoma of the Kidney | MPPE1 | 65258 | metallophosphoesterase 1 | Q53F39 |
| C1266045 | Metanephric adenoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1266063 | Malignant eccrine spiradenoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1266065 | Eccrine porocarcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1266091 | Thymoma, type A | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1266114 | Meningeal melanomatosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1266128 | Ossifying fibromyxoid tumor | ENO2 | 2026 | enolase 2 | P09104 |
| C1266129 | Atypical Lipoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1266129 | Atypical Lipoma | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C1266129 | Atypical Lipoma | TNKS | 8658 | tankyrase | O95271 |
| C1266129 | Atypical Lipoma | CPM | 1368 | carboxypeptidase M | P14384 |
| C1266129 | Atypical Lipoma | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C1266129 | Atypical Lipoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1266144 | Pleuropulmonary blastoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1266158 | Nongerminomatous Germ Cell Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1266158 | Nongerminomatous Germ Cell Tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1266177 | Dysembryoplastic neuroepithelial tumor | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1266177 | Dysembryoplastic neuroepithelial tumor | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1266177 | Dysembryoplastic neuroepithelial tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1266177 | Dysembryoplastic neuroepithelial tumor | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1266177 | Dysembryoplastic neuroepithelial tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1266180 | Large cell medulloblastoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
