| Disease ID | Disease name | Source of annotation with PGM1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS212065 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Purine metabolism | hsa00230 | 5.28 |
| Pentose phosphate pathway | hsa00030 | 7.86 |
| Starch and sucrose metabolism | hsa00500 | 6.91 |
| Galactose metabolism | hsa00052 | 7.72 |
| Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
| Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Diseases associated with glycosylation precursor biosynthesis | R-HSA-5609975 | 9.08 |
| Defective PGM1 causes PGM1-CDG (CDG1t) | R-HSA-5609974 | 12.98 |
| Glycogen synthesis | R-HSA-3322077 | 9.08 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Glycogen breakdown (glycogenolysis) | R-HSA-70221 | 9.08 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Galactose catabolism | R-HSA-70370 | 10.66 |
| Disease | R-HSA-1643685 | 3.33 |
| Glucose metabolism | R-HSA-70326 | 6.77 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| isomerase activity | GO:0016853 | 4.62 |
| magnesium ion binding | GO:0000287 | 4.41 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| phosphoglucomutase activity | GO:0004614 | 8.35 |
| intramolecular transferase activity, phosphotransferases | GO:0016868 | 7.34 |
| intramolecular transferase activity | GO:0016866 | 6.44 |
| metal ion binding | GO:0046872 | 1.41 |