| Disease ID | Disease name | Source of annotation with GYG1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 613507 | GLYCOGEN STORAGE DISEASE XV | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GYG1 |
| PS615895 | POLYGLUCOSAN BODY MYOPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | GYG1, RBCK1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glycogen storage diseases | R-HSA-3229121 | 9.52 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Myoclonic epilepsy of Lafora | R-HSA-3785653 | 9.52 |
| Diseases of carbohydrate metabolism | R-HSA-5663084 | 8.28 |
| Glucose metabolism | R-HSA-70326 | 6.77 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Glycogen synthesis | R-HSA-3322077 | 9.08 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Glycogen breakdown (glycogenolysis) | R-HSA-70221 | 9.08 |
| Disease | R-HSA-1643685 | 3.33 |
| Lysosomal glycogen catabolism | R-HSA-5357572 | 11.4 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| protein binding | GO:0005515 | 0.46 |
| UDP-glucosyltransferase activity | GO:0035251 | 7.54 |
| ion binding | GO:0043167 | 1.36 |
| glucosyltransferase activity | GO:0046527 | 6.97 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| metal ion binding | GO:0046872 | 1.41 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| glycogenin glucosyltransferase activity | GO:0008466 | 9.05 |