Disease ID | Disease name | Source of annotation with MOGS | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS212066 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 16 | B4GALT1, MOGS, SLC35C1, COG4, SLC39A8, TMEM199, COG5, SLC35A2, TMEM165, COG8, COG1, SLC35A1, COG6, MGAT2, CCDC115, COG7 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Protein processing in endoplasmic reticulum | hsa04141 | 5.35 |
N-Glycan biosynthesis | hsa00510 | 7.07 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Defective MOGS causes MOGS-CDG (CDG-2b) | R-HSA-4793954 | 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 |
N-glycan trimming in the ER and Calnexin/Calreticulin cycle | R-HSA-532668 | 9.28 |
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 |
---|---|---|
glucosidase activity | GO:0015926 | 7.1 |
hydrolase activity | GO:0016787 | 1.9 |
catalytic activity | GO:0003824 | 1.05 |
hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
mannosyl-oligosaccharide glucosidase activity | GO:0004573 | 9.74 |
hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |