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glycogen storage disease
Summary
- Synonym
-
- glycogenosis
- Definition
- A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
- Super Class
- glycogen metabolism disorder
External Links
- Disease Ontology
- DOID:2747
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 189 | AGXT | alanine--glyoxylate aminotransferase | |
| 226 | ALDOA | aldolase, fructose-bisphosphate A | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2027 | ENO3 | enolase 3 | |
| 2203 | FBP1 | fructose-bisphosphatase 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 18641 | Pfkl | phosphofructokinase, liver, B-type | |
| 18642 | Pfkm | phosphofructokinase, muscle | |
| 18679 | Phka1 | phosphorylase kinase alpha 1 | |
| 27357 | Gyg1 | glycogenin 1 | |
| 56421 | Pfkp | phosphofructokinase, platelet | |
| 68961 | Phkg2 | phosphorylase kinase, gamma 2 (testis) | |
| 108099 | Prkag2 | protein kinase, AMP-activated, gamma 2 non-catalytic subunit | |
| 110094 | Phka2 | phosphorylase kinase alpha 2 | |
| 110095 | Pygl | liver glycogen phosphorylase | |
| 232493 | Gys2 | glycogen synthase 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 25623 | Gys2 | glycogen synthase 2 | |
| 25741 | Pfkl | phosphofructokinase, liver type | |
| 60416 | Pfkp | phosphofructokinase, platelet | |
| 64035 | Pygl | glycogen phosphorylase L | |
| 65152 | Pfkm | phosphofructokinase, muscle | |
| 81675 | Gyg1 | glycogenin 1 | |
| 140671 | Phkg2 | phosphorylase kinase catalytic subunit gamma 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 174924 | gsy-1 | Glycogen [starch] synthase | |
| 176149 | C14B9.8 | Phosphorylase b kinase regulatory subunit;putative phosphorylase b kinase regulatory subunit alpha | |
| 179335 | pfk-1.2 | ATP-dependent 6-phosphofructokinase 2 | |
| 180119 | gyg-2 | glycogenin glucosyltransferase | |
| 180583 | pfk-1.1 | ATP-dependent 6-phosphofructokinase 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 850569 | GSY1 | glycogen (starch) synthase GSY1 | |
| 850962 | GSY2 | glycogen (starch) synthase GSY2 | |
| 853155 | PFK1 | 6-phosphofructokinase subunit alpha | |
| 853932 | GLG1 | glycogenin glucosyltransferase GLG1 | |
| 855245 | PFK2 | 6-phosphofructokinase subunit beta | |
| 856289 | GPH1 | glycogen phosphorylase |
Related Glycoprotein
