| Disease ID | Disease name | Source of annotation with ALG2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS212065 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I | ClinVar, OMIM | 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 |
| PS601462 | MYASTHENIC SYNDROME, CONGENITAL | ClinVar, OMIM, HUMSAVAR | link to OMIM | 23 | LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| N-Glycan biosynthesis | hsa00510 | 7.07 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
| Defective ALG2 causes ALG2-CDG (CDG-1i) | R-HSA-4549349 | 12.98 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Diseases associated with N-glycosylation of proteins | R-HSA-3781860 | 8.89 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| protein N-terminus binding | GO:0047485 | 5.11 |
| calcium-dependent protein binding | GO:0048306 | 5.68 |
| GO:0004378 | 9.74 | |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| glycolipid mannosyltransferase activity | GO:0004376 | 8.35 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| GO:0000033 | 8.64 | |
| mannosyltransferase activity | GO:0000030 | 6.52 |