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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 |
|---|---|---|---|---|---|
| C1839130 | Dystonia 3, Torsion, X-Linked | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0013421 | Dystonia | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0013421 | Dystonia | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0013421 | Dystonia | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0013421 | Dystonia | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0013421 | Dystonia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0013421 | Dystonia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0013421 | Dystonia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0013421 | Dystonia | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0013421 | Dystonia | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0013421 | Dystonia | ARSA | 410 | arylsulfatase A | P15289 |
| C0013421 | Dystonia | PSAP | 5660 | prosaposin | P07602 |
| C0013421 | Dystonia | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0013421 | Dystonia | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0013421 | Dystonia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0013421 | Dystonia | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0013421 | Dystonia | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0013421 | Dystonia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0013421 | Dystonia | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0013421 | Dystonia | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0013421 | Dystonia | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C0013421 | Dystonia | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0013421 | Dystonia | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0013421 | Dystonia | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0013421 | Dystonia | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
