| Disease ID | Disease name | Source of annotation with MPI | 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 |
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| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Fructose and mannose metabolism | hsa00051 | 7.72 |
| Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
| Diseases associated with glycosylation precursor biosynthesis | R-HSA-5609975 | 9.08 |
| Synthesis of GDP-mannose | R-HSA-446205 | 10.66 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Defective MPI causes MPI-CDG (CDG-1b) | R-HSA-4043916 | 12.98 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| binding | GO:0005488 | 0.18 |
| cation binding | GO:0043169 | 1.4 |
| isomerase activity | GO:0016853 | 4.62 |
| transition metal ion binding | GO:0046914 | 2.48 |
| mannose-6-phosphate isomerase activity | GO:0004476 | 9.74 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| zinc ion binding | GO:0008270 | 2.66 |
| metal ion binding | GO:0046872 | 1.41 |
| intramolecular oxidoreductase activity, interconverting aldoses and ketoses | GO:0016861 | 7.25 |
| intramolecular oxidoreductase activity | GO:0016860 | 5.75 |