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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 |
|---|---|---|---|---|---|
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | CYP8B1 | 1582 | cytochrome P450 family 8 subfamily B member 1 | Q9UNU6 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C2750440 | FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C3810100 | FANCONI RENOTUBULAR SYNDROME 3 | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C4551503 | FANCONI RENOTUBULAR SYNDROME 1 | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C3160738 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C3160738 | FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C3468041 | FANCONI ANEMIA, COMPLEMENTATION GROUP C | GCK | 2645 | glucokinase | P35557 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ANXA7 | 310 | annexin A7 | P20073 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | LPL | 4023 | lipoprotein lipase | P06858 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CAT | 847 | catalase | P04040 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CD33 | 945 | CD33 molecule | P20138 |
| C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
