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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 |
|---|---|---|---|---|---|
| C0279592 | Adult T Acute Lymphoblastic Leukemia | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0751489 | Adult Sandhoff Disease | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0751489 | Adult Sandhoff Disease | OGA | 10724 | O-GlcNAcase | O60502 |
| C3887650 | Adult Rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3887650 | Adult Rickets | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C3887650 | Adult Rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C3887650 | Adult Rickets | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C3887650 | Adult Rickets | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C3887650 | Adult Rickets | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3887650 | Adult Rickets | RGN | 9104 | regucalcin | Q15493 |
| C3887650 | Adult Rickets | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C3887650 | Adult Rickets | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0279070 | Adult Oligodendroglioma | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0279070 | Adult Oligodendroglioma | HPSE | 10855 | heparanase | Q9Y251 |
| C0279070 | Adult Oligodendroglioma | ENO2 | 2026 | enolase 2 | P09104 |
| C0279070 | Adult Oligodendroglioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0279070 | Adult Oligodendroglioma | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C0279070 | Adult Oligodendroglioma | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0279070 | Adult Oligodendroglioma | LGALS1 | 3956 | galectin 1 | P09382 |
| C0279070 | Adult Oligodendroglioma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0279070 | Adult Oligodendroglioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0279070 | Adult Oligodendroglioma | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0279070 | Adult Oligodendroglioma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0279070 | Adult Oligodendroglioma | ACLY | 47 | ATP citrate lyase | P53396 |
| C0279070 | Adult Oligodendroglioma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
