Disease ID | Disease name | Source of annotation with PMM2 | 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 |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Fructose and mannose metabolism | hsa00051 | 7.72 |
Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
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 |
Synthesis of GDP-mannose | R-HSA-446205 | 10.66 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
Defective PMM2 causes PMM2-CDG (CDG-1a) | R-HSA-4043911 | 12.98 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Post-translational protein modification | R-HSA-597592 | 4.54 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
isomerase activity | GO:0016853 | 4.62 |
catalytic activity | GO:0003824 | 1.05 |
phosphomannomutase activity | GO:0004615 | 9.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
intramolecular transferase activity, phosphotransferases | GO:0016868 | 7.34 |
intramolecular transferase activity | GO:0016866 | 6.44 |