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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
| 4245 | MGAT1 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
| 4534 | MTM1 | myotubularin 1 | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 5211 | PFKL | phosphofructokinase, liver type | |
| 5213 | PFKM | phosphofructokinase, muscle | |
| 5214 | PFKP | phosphofructokinase, platelet | |
| 5224 | PGAM2 | phosphoglycerate mutase 2 | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5236 | PGM1 | phosphoglucomutase 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
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9HAW8 | UDP-glucuronosyltransferase 1A10 | |
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 | |
| Q9NQR9 | Glucose-6-phosphatase 2 |
