| Disease ID | Disease name | Source of annotation with CTSA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 256540 | GALACTOSIALIDOSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CTSA |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Renin-angiotensin system | hsa04614 | 8.68 |
| Lysosome | hsa04142 | 5.78 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| Immune System | R-HSA-168256 | 2.37 |
| Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Sialic acid metabolism | R-HSA-4085001 | 7.94 |
| Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
| Metabolism | R-HSA-1430728 | 2.34 |
| MHC class II antigen presentation | R-HSA-2132295 | 6.01 |
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| exo-alpha-sialidase activity | GO:0004308 | 7.95 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| alpha-sialidase activity | GO:0016997 | 7.95 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| carboxypeptidase activity | GO:0004180 | 6.0 |
| hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
| serine-type carboxypeptidase activity | GO:0004185 | 7.1 |
| exopeptidase activity | GO:0008238 | 5.07 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| enzyme activator activity | GO:0008047 | 3.56 |
| hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
| serine-type exopeptidase activity | GO:0070008 | 6.85 |
| peptidase activity | GO:0008233 | 3.23 |
| molecular function regulator | GO:0098772 | 2.51 |
| catalytic activity | GO:0003824 | 1.05 |
| serine-type peptidase activity | GO:0008236 | 4.27 |