| Disease ID | Disease name | Source of annotation with ALG13 | 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 |
| PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 37 | SZT2, EEF1A2, KCNT1, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, SCN8A, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, CDKL5, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, PNKP, SLC12A5, GABRA1, DOCK7, ARX, GRIN2B, NECAP1, PIGA |
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 |
| 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 |
| Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) | R-HSA-5633231 | 11.98 |
| 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 |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| ubiquitin-like protein-specific protease activity | GO:0019783 | 4.97 |
| transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
| transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| ubiquitinyl hydrolase activity | GO:0101005 | 5.07 |
| thiol-dependent ubiquitinyl hydrolase activity | GO:0036459 | 5.07 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| cysteine-type peptidase activity | GO:0008234 | 4.51 |
| GO:0004577 | 9.05 | |
| protein binding | GO:0005515 | 0.46 |
| RNA binding | GO:0003723 | 2.36 |
| acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
| peptidase activity | GO:0008233 | 3.23 |
| UDP-glycosyltransferase activity | GO:0008194 | 4.81 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleic acid binding | GO:0003676 | 1.44 |
| binding | GO:0005488 | 0.18 |