| Disease ID | Disease name | Source of annotation with GNS | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 252940 | MUCOPOLYSACCHARIDOSIS, TYPE IIID | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GNS |
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 |
|---|---|---|
| Keratan sulfate degradation | R-HSA-2022857 | 9.28 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Keratan sulfate/keratin metabolism | R-HSA-1638074 | 7.89 |
| Mucopolysaccharidoses | R-HSA-2206281 | 9.52 |
| Diseases of carbohydrate metabolism | R-HSA-5663084 | 8.28 |
| MPS IIID - Sanfilippo syndrome D | R-HSA-2206305 | 12.98 |
| Membrane Trafficking | R-HSA-199991 | 5.26 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| trans-Golgi Network Vesicle Budding | R-HSA-199992 | 6.85 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Lysosome Vesicle Biogenesis | R-HSA-432720 | 7.85 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Clathrin derived vesicle budding | R-HSA-421837 | 6.85 |
| Disease | R-HSA-1643685 | 3.33 |
| Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| metal ion binding | GO:0046872 | 1.41 |
| protein binding | GO:0005515 | 0.46 |
| 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-acetylglucosamine-6-sulfatase activity | GO:0008449 | 8.64 |