| Disease ID | Disease name | Source of annotation with GBE1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 232500 | GLYCOGEN STORAGE DISEASE IV | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GBE1 |
| 263570 | POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM | OMIM, HUMSAVAR | link to OMIM | 1 | GBE1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Starch and sucrose metabolism | hsa00500 | 6.91 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glycogen synthesis | R-HSA-3322077 | 9.08 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Glucose metabolism | R-HSA-70326 | 6.77 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| cation binding | GO:0043169 | 1.4 |
| 1,4-alpha-glucan branching enzyme activity | GO:0003844 | 9.74 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| ion binding | GO:0043167 | 1.36 |
| 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 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |