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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 |
|---|---|---|---|---|---|
| C0029124 | Optic Atrophy | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0029124 | Optic Atrophy | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0029124 | Optic Atrophy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0029124 | Optic Atrophy | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0029124 | Optic Atrophy | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0029124 | Optic Atrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0338508 | Optic Atrophy 1 | TREH | 11181 | trehalase | O43280 |
| C0338508 | Optic Atrophy 1 | ACO2 | 50 | aconitase 2 | Q99798 |
| C0338508 | Optic Atrophy 1 | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C0338508 | Optic Atrophy 1 | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0338508 | Optic Atrophy 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0338508 | Optic Atrophy 1 | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0338508 | Optic Atrophy 1 | DGKG | 1608 | diacylglycerol kinase gamma | P49619 |
| C0338508 | Optic Atrophy 1 | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0338508 | Optic Atrophy 1 | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0917796 | Optic Atrophy, Hereditary, Leber | ENO2 | 2026 | enolase 2 | P09104 |
| C0917796 | Optic Atrophy, Hereditary, Leber | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0917796 | Optic Atrophy, Hereditary, Leber | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0917796 | Optic Atrophy, Hereditary, Leber | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0917796 | Optic Atrophy, Hereditary, Leber | CAT | 847 | catalase | P04040 |
| C0917796 | Optic Atrophy, Hereditary, Leber | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C1833798 | Optic Nerve Aplasia, Bilateral | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C0346326 | Optic Nerve Glioma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0346326 | Optic Nerve Glioma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0346326 | Optic Nerve Glioma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
