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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 |
|---|---|---|---|---|---|
| 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 |
| C0013421 | Dystonia | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0013421 | Dystonia | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0013421 | Dystonia | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0013421 | Dystonia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0013421 | Dystonia | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0013421 | Dystonia | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0013421 | Dystonia | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0013421 | Dystonia | PCCB | 5096 | propionyl-CoA carboxylase subunit beta | P05166 |
| C0013421 | Dystonia | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C0013421 | Dystonia | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0013421 | Dystonia | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C0013421 | Dystonia | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0013421 | Dystonia | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0013421 | Dystonia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0013421 | Dystonia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0013421 | Dystonia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0013421 | Dystonia | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0013421 | Dystonia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
