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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 |
|---|---|---|---|---|---|
| C0016788 | Fucosidase Deficiency Disease | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0016781 | Fuchs Endothelial Dystrophy | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0016781 | Fuchs Endothelial Dystrophy | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0016781 | Fuchs Endothelial Dystrophy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0016781 | Fuchs Endothelial Dystrophy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0016781 | Fuchs Endothelial Dystrophy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0016756 | Fructose-1,6-Diphosphatase Deficiency | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0016751 | Hereditary fructose intolerance syndrome | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0016751 | Hereditary fructose intolerance syndrome | KHK | 3795 | ketohexokinase | P50053 |
| C0016724 | Froehlich's Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0016719 | Friedreich Ataxia | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0016719 | Friedreich Ataxia | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0016719 | Friedreich Ataxia | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0016719 | Friedreich Ataxia | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0016719 | Friedreich Ataxia | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
| C0016719 | Friedreich Ataxia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0016667 | Fragile X Syndrome | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0016667 | Fragile X Syndrome | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0016667 | Fragile X Syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0016667 | Fragile X Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0016667 | Fragile X Syndrome | LGALS4 | 3960 | galectin 4 | P56470 |
| C0016667 | Fragile X Syndrome | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0016667 | Fragile X Syndrome | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0016667 | Fragile X Syndrome | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0016667 | Fragile X Syndrome | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
