Disease ID | Disease name | Source of annotation with SGSH | 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 |
---|---|---|
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Mucopolysaccharidoses | R-HSA-2206281 | 9.52 |
Diseases of carbohydrate metabolism | R-HSA-5663084 | 8.28 |
MPS IIIA - Sanfilippo syndrome A | R-HSA-2206307 | 12.98 |
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 acid sulfur-nitrogen bonds | GO:0016826 | 9.74 |
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-sulfoglucosamine sulfohydrolase activity | GO:0016250 | 9.74 |
metal ion binding | GO:0046872 | 1.41 |