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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 |
|---|---|---|---|---|---|
| C1851584 | Childhood Ependymoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1851584 | Childhood Ependymoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1851584 | Childhood Ependymoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1851584 | Childhood Ependymoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1851584 | Childhood Ependymoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0279989 | Childhood Epithelioid Sarcoma | CD109 | 135228 | CD109 molecule | Q6YHK3 |
| C0279989 | Childhood Epithelioid Sarcoma | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0279989 | Childhood Epithelioid Sarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1332969 | Childhood Ganglioglioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1332969 | Childhood Ganglioglioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0279014 | Childhood Germ Cell Tumor | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0279014 | Childhood Germ Cell Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0279014 | Childhood Germ Cell Tumor | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C0279014 | Childhood Germ Cell Tumor | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0279014 | Childhood Germ Cell Tumor | GPC3 | 2719 | glypican 3 | P51654 |
| C0279014 | Childhood Germ Cell Tumor | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0279014 | Childhood Germ Cell Tumor | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0279014 | Childhood Germ Cell Tumor | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0279606 | Childhood Hepatocellular Carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0279606 | Childhood Hepatocellular Carcinoma | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0279606 | Childhood Hepatocellular Carcinoma | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0279606 | Childhood Hepatocellular Carcinoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0279606 | Childhood Hepatocellular Carcinoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0279606 | Childhood Hepatocellular Carcinoma | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0279606 | Childhood Hepatocellular Carcinoma | UGT1A9 | 54600 | UDP glucuronosyltransferase family 1 member A9 | O60656 |
