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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 |
|---|---|---|---|---|---|
| C0015695 | Fatty Liver | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0015695 | Fatty Liver | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0015695 | Fatty Liver | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0015695 | Fatty Liver | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
| C0015695 | Fatty Liver | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0015695 | Fatty Liver | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0206042 | Fatal Familial Insomnia | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0206042 | Fatal Familial Insomnia | PRNP | 5621 | prion protein | P04156 |
| C0206042 | Fatal Familial Insomnia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0206042 | Fatal Familial Insomnia | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
| C0271708 | Fasting Hypoglycemia | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0271708 | Fasting Hypoglycemia | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0271708 | Fasting Hypoglycemia | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0271708 | Fasting Hypoglycemia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0271708 | Fasting Hypoglycemia | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0271708 | Fasting Hypoglycemia | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0271708 | Fasting Hypoglycemia | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0015652 | Fascioliasis | PSAP | 5660 | prosaposin | P07602 |
| C0015652 | Fascioliasis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0015652 | Fascioliasis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0268255 | Farber Lipogranulomatosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0268255 | Farber Lipogranulomatosis | PSAP | 5660 | prosaposin | P07602 |
| C0268255 | Farber Lipogranulomatosis | GALC | 2581 | galactosylceramidase | P54803 |
| C3495427 | Fanconi-Bickel Syndrome | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C3495427 | Fanconi-Bickel Syndrome | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
