| Disease ID | Disease name | Source of annotation with ARSE | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 302950 | CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ARSE |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
| Gamma carboxylation, hypusine formation and arylsulfatase activation | R-HSA-163841 | 7.81 |
| The activation of arylsulfatases | R-HSA-1663150 | 9.28 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| 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 |
| metal ion binding | GO:0046872 | 1.41 |
| GO:0004065 | 7.25 |