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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 |
|---|---|---|---|---|---|
| C0020179 | Huntington Disease | QPRT | 23475 | quinolinate phosphoribosyltransferase | Q15274 |
| C0020179 | Huntington Disease | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0020179 | Huntington Disease | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0020179 | Huntington Disease | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0020179 | Huntington Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020179 | Huntington Disease | RENBP | 5973 | renin binding protein | P51606 |
| C0020179 | Huntington Disease | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C0020179 | Huntington Disease | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0020179 | Huntington Disease | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0020179 | Huntington Disease | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0020179 | Huntington Disease | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0020179 | Huntington Disease | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0020179 | Huntington Disease | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0020179 | Huntington Disease | GPX6 | 257202 | glutathione peroxidase 6 | P59796 |
| C0020179 | Huntington Disease | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0020179 | Huntington Disease | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0020179 | Huntington Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020179 | Huntington Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020179 | Huntington Disease | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0020179 | Huntington Disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0020179 | Huntington Disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C0020179 | Huntington Disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020179 | Huntington Disease | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C0020074 | HSAN Type IV | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0020071 | Hereditary Sensory Autonomic Neuropathy, Type 1 | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
