| Disease ID | Disease name | Source of annotation with DPM2 | 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 |
|---|---|---|
| Glycosylphosphatidylinositol(GPI)-anchor biosynthesis | hsa00563 | 8.07 |
| N-Glycan biosynthesis | hsa00510 | 7.07 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Post-translational modification: synthesis of GPI-anchored proteins | R-HSA-163125 | 8.28 |
| Defective DPM2 causes DPM2-CDG (CDG-1u) | R-HSA-4719377 | 12.98 |
| 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 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Synthesis of glycosylphosphatidylinositol (GPI) | R-HSA-162710 | 8.89 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Synthesis of dolichyl-phosphate mannose | R-HSA-162699 | 11.4 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein binding | GO:0005515 | 0.46 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| 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 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| molecular function regulator | GO:0098772 | 2.51 |
| dolichyl-phosphate beta-D-mannosyltransferase activity | GO:0004582 | 8.35 |
| mannosyltransferase activity | GO:0000030 | 6.52 |