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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 |
|---|---|---|---|---|---|
| C1707291 | NUT midline carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1707291 | NUT midline carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1707291 | NUT midline carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1707291 | NUT midline carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0027341 | Nail-Patella Syndrome | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0027404 | Narcolepsy | HS6ST3 | 266722 | heparan sulfate 6-O-sulfotransferase 3 | Q8IZP7 |
| C0027404 | Narcolepsy | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
| C0027404 | Narcolepsy | NDST3 | 9348 | N-deacetylase and N-sulfotransferase 3 | O95803 |
| C0027404 | Narcolepsy | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0027404 | Narcolepsy | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0027404 | Narcolepsy | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0027404 | Narcolepsy | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0027404 | Narcolepsy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0027404 | Narcolepsy | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0027404 | Narcolepsy | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0027404 | Narcolepsy | MDGA2 | 161357 | MAM domain containing glycosylphosphatidylinositol anchor 2 | Q7Z553 |
| C0027404 | Narcolepsy | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0027404 | Narcolepsy | GPC5 | 2262 | glypican 5 | P78333 |
| C0027404 | Narcolepsy | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0751362 | Narcolepsy-Cataplexy Syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751362 | Narcolepsy-Cataplexy Syndrome | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0751362 | Narcolepsy-Cataplexy Syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0392788 | Nasal Type Extranodal NK/T-Cell Lymphoma | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
