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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 |
|---|---|---|---|---|---|
| C0007273 | Carotid Artery Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0162510 | Caroli Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CS | 1431 | citrate synthase | O75390 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0342790 | Carnitine palmitoyl transferase 2 deficiency | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0406810 | Carney Complex | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0406810 | Carney Complex | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0406810 | Carney Complex | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0406810 | Carney Complex | CAT | 847 | catalase | P04040 |
| C0406810 | Carney Complex | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0406810 | Carney Complex | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0406810 | Carney Complex | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0796279 | Carnevale syndrome | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0796279 | Carnevale syndrome | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0869523 | Carditis | DCN | 1634 | decorin | P07585 |
| C0869523 | Carditis | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0007222 | Cardiovascular Diseases | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0007222 | Cardiovascular Diseases | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0007222 | Cardiovascular Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
