| Disease ID | Disease name | Source of annotation with PGAM2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 261670 | GLYCOGEN STORAGE DISEASE X | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PGAM2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Biosynthesis of amino acids | hsa01230 | 6.58 |
| Carbon metabolism | hsa01200 | 6.03 |
| Central carbon metabolism in cancer | hsa05230 | 6.7 |
| Glycine, serine and threonine metabolism | hsa00260 | 7.45 |
| Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Gluconeogenesis | R-HSA-70263 | 8.03 |
| Glycolysis | R-HSA-70171 | 8.03 |
| 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 |
| phosphatase activity | GO:0016791 | 4.11 |
| isomerase activity | GO:0016853 | 4.62 |
| bisphosphoglycerate 2-phosphatase activity | GO:0004083 | 8.13 |
| intramolecular transferase activity, phosphotransferases | GO:0016868 | 7.34 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| catalytic activity | GO:0003824 | 1.05 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| bisphosphoglycerate mutase activity | GO:0004082 | 8.35 |
| 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity | GO:0046538 | 8.35 |
| intramolecular transferase activity | GO:0016866 | 6.44 |
| phosphoglycerate mutase activity | GO:0004619 | 8.35 |
| bisphosphoglycerate phosphatase activity | GO:0034416 | 7.95 |