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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 |
|---|---|---|---|---|---|
| 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 |
| C0342853 | Sialuria | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0342853 | Sialuria | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0342853 | Sialuria | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0342853 | Sialuria | RENBP | 5973 | renin binding protein | P51606 |
| C0342859 | Harderoporphyria | CPO | 130749 | carboxypeptidase O | Q8IVL8 |
| C0342870 | Bifunctional peroxisomal enzyme deficiency | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0342870 | Bifunctional peroxisomal enzyme deficiency | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0342881 | Familial hypercholesterolemia - homozygous | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0342881 | Familial hypercholesterolemia - homozygous | LPL | 4023 | lipoprotein lipase | P06858 |
| C0342881 | Familial hypercholesterolemia - homozygous | CD14 | 929 | CD14 molecule | P08571 |
| C0342881 | Familial hypercholesterolemia - homozygous | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | LPL | 4023 | lipoprotein lipase | P06858 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | LIPG | 9388 | lipase G, endothelial type | Q9Y5X9 |
| C0342895 | Fish-Eye Disease | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0343065 | Dermatographic urticaria | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0343068 | Familial cold urticaria | HPSE | 10855 | heparanase | Q9Y251 |
| C0343068 | Familial cold urticaria | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0343082 | Senile angioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0343084 | Capillary Leak Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
