Disease ID | Disease name | Source of annotation with DPM1 | 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 |
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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 |
---|---|---|
Post-translational modification: synthesis of GPI-anchored proteins | R-HSA-163125 | 8.28 |
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 |
Defective DPM1 causes DPM1-CDG (CDG-1e) | R-HSA-4717374 | 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 |
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 |
alcohol binding | GO:0043178 | 5.53 |
dolichyl-phosphate-mannose-protein mannosyltransferase activity | GO:0004169 | 7.95 |
carbohydrate binding | GO:0030246 | 4.17 |
small molecule binding | GO:0036094 | 1.89 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
monosaccharide binding | GO:0048029 | 5.85 |
transferase activity, transferring glycosyl groups | GO:0016757 | 4.08 |
transferase activity, transferring hexosyl groups | GO:0016758 | 4.43 |
mannosyltransferase activity | GO:0000030 | 6.52 |
dolichyl-phosphate beta-D-mannosyltransferase activity | GO:0004582 | 8.35 |
mannose binding | GO:0005537 | 6.85 |
binding | GO:0005488 | 0.18 |