| Disease ID | Disease name | Source of annotation with PCSK1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 612362 | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 | ClinVar, OMIM | link to OMIM | 1 | PCSK1 |
| 600955 | PROPROTEIN CONVERTASE 1/3 DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PCSK1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Insulin processing | R-HSA-264876 | 8.28 |
| Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) | R-HSA-381771 | 8.66 |
| Synthesis, secretion, and deacylation of Ghrelin | R-HSA-422085 | 8.89 |
| Peptide hormone metabolism | R-HSA-2980736 | 6.61 |
| Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) | R-HSA-400511 | 9.28 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Peptide hormone biosynthesis | R-HSA-209952 | 9.4 |
| Incretin synthesis, secretion, and inactivation | R-HSA-400508 | 8.46 |
| 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 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| peptidase activity | GO:0008233 | 3.23 |
| serine-type peptidase activity | GO:0008236 | 4.27 |