| Disease ID | Disease name | Source of annotation with CTSD | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS256730 | CEROID LIPOFUSCINOSES | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | CLN8, CLN5, MFSD8, CTSD, GRN, CLN6, PPT1, DNAJC5, SMPD1, CTSF, CLN3, TPP1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of Angiotensinogen to Angiotensins | R-HSA-2022377 | 8.98 |
| Immune System | R-HSA-168256 | 2.37 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| Peptide hormone metabolism | R-HSA-2980736 | 6.61 |
| Collagen degradation | R-HSA-1442490 | 7.03 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| MHC class II antigen presentation | R-HSA-2132295 | 6.01 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| serine-type endopeptidase activity | GO:0004252 | 4.4 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| aspartic-type peptidase activity | GO:0070001 | 6.1 |
| catalytic activity | GO:0003824 | 1.05 |
| cysteine-type endopeptidase activity | GO:0004197 | 5.28 |
| aspartic-type endopeptidase activity | GO:0004190 | 6.13 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| peptidase activity | GO:0008233 | 3.23 |
| cysteine-type peptidase activity | GO:0008234 | 4.51 |
| serine-type peptidase activity | GO:0008236 | 4.27 |