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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 |
|---|---|---|---|---|---|
| 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 |
| C0278510 | Childhood Medulloblastoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0278510 | Childhood Medulloblastoma | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0278510 | Childhood Medulloblastoma | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0278510 | Childhood Medulloblastoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0278510 | Childhood Medulloblastoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0278510 | Childhood Medulloblastoma | TREH | 11181 | trehalase | O43280 |
| C0278510 | Childhood Medulloblastoma | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0278510 | Childhood Medulloblastoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0278510 | Childhood Medulloblastoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0278510 | Childhood Medulloblastoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0278510 | Childhood Medulloblastoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0278510 | Childhood Medulloblastoma | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0278510 | Childhood Medulloblastoma | CANX | 821 | calnexin | P27824 |
| C0278510 | Childhood Medulloblastoma | TNKS | 8658 | tankyrase | O95271 |
| C0278510 | Childhood Medulloblastoma | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0278510 | Childhood Medulloblastoma | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0278510 | Childhood Medulloblastoma | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0278510 | Childhood Medulloblastoma | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0278510 | Childhood Medulloblastoma | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0278510 | Childhood Medulloblastoma | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0278510 | Childhood Medulloblastoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0278510 | Childhood Medulloblastoma | CD1D | 912 | CD1d molecule | P15813 |
