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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 |
|---|---|---|---|---|---|
| C0008487 | Chordoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0008487 | Chordoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0008489 | Chorea | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0008489 | Chorea | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0008489 | Chorea | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0008489 | Chorea | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0008489 | Chorea | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0008489 | Chorea | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0008489 | Chorea | ARSA | 410 | arylsulfatase A | P15289 |
| C0008489 | Chorea | PSAP | 5660 | prosaposin | P07602 |
| C0008489 | Chorea | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0008489 | Chorea | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008489 | Chorea | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0008489 | Chorea | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0008489 | Chorea | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C0008489 | Chorea | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0008489 | Chorea | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0008489 | Chorea | PRNP | 5621 | prion protein | P04156 |
| C0008489 | Chorea | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0008489 | Chorea | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0008489 | Chorea | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0008489 | Chorea | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0008489 | Chorea | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0008489 | Chorea | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0008489 | Chorea | PRNP | 5621 | prion protein | F7VJQ1 |
