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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 |
|---|---|---|---|---|---|
| C0278510 | Childhood Medulloblastoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0278510 | Childhood Medulloblastoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0278510 | Childhood Medulloblastoma | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0278510 | Childhood Medulloblastoma | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0278510 | Childhood Medulloblastoma | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0278510 | Childhood Medulloblastoma | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0278510 | Childhood Medulloblastoma | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0278510 | Childhood Medulloblastoma | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0278510 | Childhood Medulloblastoma | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0278510 | Childhood Medulloblastoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0278510 | Childhood Medulloblastoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0278510 | Childhood Medulloblastoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0278510 | Childhood Medulloblastoma | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0278510 | Childhood Medulloblastoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0278510 | Childhood Medulloblastoma | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0279987 | Childhood Malignant Peripheral Nerve Sheath Tumor | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0279987 | Childhood Malignant Peripheral Nerve Sheath Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0279987 | Childhood Malignant Peripheral Nerve Sheath Tumor | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0279987 | Childhood Malignant Peripheral Nerve Sheath Tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C1332979 | Childhood Lymphoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1332979 | Childhood Lymphoma | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C1332979 | Childhood Lymphoma | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1332979 | Childhood Lymphoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1332979 | Childhood Lymphoma | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1332979 | Childhood Lymphoma | COMT | 1312 | catechol-O-methyltransferase | P21964 |
