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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 | 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 |
| 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 |
