| Disease ID | Disease name | Source of annotation with GLB1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 230650 | GM1-GANGLIOSIDOSIS, TYPE III | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GLB1 |
| 230600 | GM1-GANGLIOSIDOSIS, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GLB1 |
| 230500 | GM1-GANGLIOSIDOSIS, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GLB1 |
| PS607014 | MUCOPOLYSACCHARIDOSES | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | ARSB, GLB1, SGSH, GALNS, NAGLU, IDUA, GNPTAB, GUSB, HYAL1, IDS, HGSNAT |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Lysosome | hsa04142 | 5.78 |
| Glycosphingolipid biosynthesis - ganglio series | hsa00604 | 8.77 |
| Sphingolipid metabolism | hsa00600 | 7.15 |
| Glycosaminoglycan degradation | hsa00531 | 8.45 |
| Other glycan degradation | hsa00511 | 8.45 |
| Galactose metabolism | hsa00052 | 7.72 |
| Metabolic pathways | hsa01100 | 2.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Keratan sulfate degradation | R-HSA-2022857 | 9.28 |
| MPS IV - Morquio syndrome B | R-HSA-2206308 | 12.98 |
| Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Keratan sulfate/keratin metabolism | R-HSA-1638074 | 7.89 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
| 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 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Diseases of metabolism | R-HSA-5668914 | 6.57 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Sialic acid metabolism | R-HSA-4085001 | 7.94 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| HS-GAG degradation | R-HSA-2024096 | 8.52 |
| Disease | R-HSA-1643685 | 3.33 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| galactosidase activity | GO:0015925 | 7.79 |
| catalytic activity | GO:0003824 | 1.05 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| alpha-sialidase activity | GO:0016997 | 7.95 |
| beta-galactosidase activity | GO:0004565 | 8.13 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
| exo-alpha-sialidase activity | GO:0004308 | 7.95 |
| galactoside binding | GO:0016936 | 8.35 |