Disease ID | Disease name | Source of annotation with GUSB | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
236750 | HYDROPS FETALIS, NONIMMUNE | ClinVar | link to OMIM | 11 | MYOM1, NEU1, FZD6, DNAH14, NEB, THSD1, UBN1, CHRNA1, GALNT14, PIGC, GUSB |
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 |
---|---|---|
Drug metabolism - other enzymes | hsa00983 | 7.21 |
Metabolic pathways | hsa01100 | 2.49 |
Porphyrin and chlorophyll metabolism | hsa00860 | 7.41 |
Lysosome | hsa04142 | 5.78 |
Pentose and glucuronate interconversions | hsa00040 | 7.68 |
Starch and sucrose metabolism | hsa00500 | 6.91 |
Glycosaminoglycan degradation | hsa00531 | 8.45 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
MPS VII - Sly syndrome | R-HSA-2206292 | 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 |
Hyaluronan metabolism | R-HSA-2142845 | 8.98 |
Metabolism | R-HSA-1430728 | 2.34 |
Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
Hyaluronan uptake and degradation | R-HSA-2160916 | 9.4 |
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, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
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 |
beta-glucuronidase activity | GO:0004566 | 8.64 |
receptor binding | GO:0005102 | 2.43 |
protein domain specific binding | GO:0019904 | 3.32 |