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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 |
|---|---|---|---|---|---|
| C0027066 | Myoclonus | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0027066 | Myoclonus | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0027066 | Myoclonus | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0027066 | Myoclonus | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0027066 | Myoclonus | PSAP | 5660 | prosaposin | P07602 |
| C0027066 | Myoclonus | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0027066 | Myoclonus | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0027066 | Myoclonus | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0027066 | Myoclonus | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0027066 | Myoclonus | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0027066 | Myoclonus | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0027066 | Myoclonus | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0027066 | Myoclonus | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0027066 | Myoclonus | GCSH | 2653 | glycine cleavage system protein H | P23434 |
| C0027066 | Myoclonus | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0027066 | Myoclonus | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0027066 | Myoclonus | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0027066 | Myoclonus | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0027066 | Myoclonus | PRNP | 5621 | prion protein | P04156 |
| C0027066 | Myoclonus | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0027066 | Myoclonus | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0027066 | Myoclonus | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0027066 | Myoclonus | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0027066 | Myoclonus | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0027066 | Myoclonus | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
