Disease ID | Disease name | Source of annotation with DPAGT1 | 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 |
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 DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 | R-HSA-4549356 | 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 |
phosphotransferase activity, for other substituted phosphate groups | GO:0016780 | 6.79 |
transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
phospho-N-acetylmuramoyl-pentapeptide-transferase activity | GO:0008963 | 9.74 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity | GO:0003976 | 8.64 |
UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity | GO:0003975 | 9.74 |