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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 |
|---|---|---|---|---|---|
| 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 |
| C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| 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 |
| C0162510 | Caroli Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0007273 | Carotid Artery Diseases | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0007273 | Carotid Artery Diseases | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0007273 | Carotid Artery Diseases | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0007273 | Carotid Artery Diseases | SELE | 6401 | selectin E | P16581 |
| C0007273 | Carotid Artery Diseases | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0007273 | Carotid Artery Diseases | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0007273 | Carotid Artery Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0751633 | Carotid Artery Plaque | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
