Disease ID | Disease name | Source of annotation with ALG14 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
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 |
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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 |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
GO:0004577 | 9.05 | |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
acetylglucosaminyltransferase activity | GO:0008375 | 5.85 |
UDP-glycosyltransferase activity | GO:0008194 | 4.81 |