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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 |
|---|---|---|---|---|---|
| C0020459 | Hyperinsulinism | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0023895 | Liver diseases | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0740858 | Substance abuse problem | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C2239176 | Liver carcinoma | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0005586 | Bipolar Disorder | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0017919 | Glycogen Storage Disease | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0038580 | Substance Dependence | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0342870 | Bifunctional peroxisomal enzyme deficiency | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C3495427 | Fanconi-Bickel Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C1969443 | Trifunctional Protein Deficiency With Myopathy And Neuropathy | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C0409959 | Osteoarthritis, Knee | LCTL | 197021 | lactase like | Q6UWM7 |
| C0029408 | Degenerative polyarthritis | LCTL | 197021 | lactase like | Q6UWM7 |
| C0003076 | Aniridia | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
| C0025958 | Microcephaly | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
| C3714756 | Intellectual Disability | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
| C0038379 | Strabismus | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C3714756 | Intellectual Disability | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0282577 | Congenital Disorders of Glycosylation | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0028738 | Nystagmus | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0036572 | Seizures | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0017168 | Gastroesophageal reflux disease | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C0029124 | Optic Atrophy | FCSK | 197258 | fucose kinase | Q8N0W3 |
| C3280314 | Combined Malonic and Methylmalonic Aciduria | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0013421 | Dystonia | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
