| Disease ID | Disease name | Source of annotation with G6PC | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 232220 | GLYCOGEN STORAGE DISEASE IB | ClinVar | link to OMIM | 2 | G6PC, SLC37A4 |
| 232200 | GLYCOGEN STORAGE DISEASE IA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | G6PC |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Carbohydrate digestion and absorption | hsa04973 | 7.28 |
| Adipocytokine signaling pathway | hsa04920 | 6.6 |
| Metabolic pathways | hsa01100 | 2.49 |
| Insulin signaling pathway | hsa04910 | 5.55 |
| Galactose metabolism | hsa00052 | 7.72 |
| FoxO signaling pathway | hsa04068 | 5.63 |
| Starch and sucrose metabolism | hsa00500 | 6.91 |
| Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
| AMPK signaling pathway | hsa04152 | 5.8 |
| PI3K-Akt signaling pathway | hsa04151 | 4.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Hexose transport | R-HSA-189200 | 7.43 |
| Metabolism | R-HSA-1430728 | 2.34 |
| SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
| Glucose transport | R-HSA-70153 | 7.62 |
| GO term | GO ID | GO IC |
|---|---|---|
| anion binding | GO:0043168 | 4.17 |
| sugar-terminal-phosphatase activity | GO:0050309 | 8.64 |
| phosphatase activity | GO:0016791 | 4.11 |
| hydrolase activity | GO:0016787 | 1.9 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| glucose-6-phosphatase activity | GO:0004346 | 8.64 |
| sugar-phosphatase activity | GO:0050308 | 7.44 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| ion binding | GO:0043167 | 1.36 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| carbohydrate phosphatase activity | GO:0019203 | 7.34 |
| phosphate ion binding | GO:0042301 | 7.25 |