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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 |
|---|---|---|---|---|---|
| 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 |
| C0008487 | Chordoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0008487 | Chordoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0008487 | Chordoma | LGALS9 | 3965 | galectin 9 | O00182 |
| C0008487 | Chordoma | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C0008487 | Chordoma | ACAN | 176 | aggrecan | P16112 |
| C0008487 | Chordoma | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0008487 | Chordoma | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0008487 | Chordoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0008487 | Chordoma | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0008487 | Chordoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0008487 | Chordoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0008487 | Chordoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0008487 | Chordoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0008479 | Chondrosarcoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0008479 | Chondrosarcoma | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0008479 | Chondrosarcoma | HS3ST1 | 9957 | heparan sulfate-glucosamine 3-sulfotransferase 1 | O14792 |
