| Disease ID | Disease name | Source of annotation with ARSB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS607014 | MUCOPOLYSACCHARIDOSES | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | ARSB, SGSH, HYAL1, GALNS, IDUA, NAGLU, GNPTAB, GUSB, GLB1, IDS, HGSNAT |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Lysosome | hsa04142 | 5.78 |
| Glycosaminoglycan degradation | hsa00531 | 8.45 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Diseases of carbohydrate metabolism | R-HSA-5663084 | 8.28 |
| CS/DS degradation | R-HSA-2024101 | 9.18 |
| Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| Mucopolysaccharidoses | R-HSA-2206281 | 9.52 |
| Gamma carboxylation, hypusine formation and arylsulfatase activation | R-HSA-163841 | 7.81 |
| The activation of arylsulfatases | R-HSA-1663150 | 9.28 |
| MPS VI - Maroteaux-Lamy syndrome | R-HSA-2206285 | 12.98 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| cation binding | GO:0043169 | 1.4 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| ion binding | GO:0043167 | 1.36 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| sulfuric ester hydrolase activity | GO:0008484 | 6.91 |
| N-acetylgalactosamine-4-sulfatase activity | GO:0003943 | 9.05 |
| metal ion binding | GO:0046872 | 1.41 |
| GO:0004065 | 7.25 |