| Disease ID | Disease name | Source of annotation with IDUA | 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 |
|---|---|---|
| CS/DS degradation | R-HSA-2024101 | 9.18 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| MPS I - Hurler syndrome | R-HSA-2206302 | 12.98 |
| Mucopolysaccharidoses | R-HSA-2206281 | 9.52 |
| Diseases of carbohydrate metabolism | R-HSA-5663084 | 8.28 |
| Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| HS-GAG degradation | R-HSA-2024096 | 8.52 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| catalytic activity | GO:0003824 | 1.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
| L-iduronidase activity | GO:0003940 | 9.74 |
| receptor binding | GO:0005102 | 2.43 |