| Disease ID | Disease name | Source of annotation with PROS1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS188050 | THROMBOPHILIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 13 | HRG, SERPIND1, F5, MTHFR, SERPINC1, THBD, F2, PROS1, PLAT, F9, HABP2, F13A1, PROC |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Complement and coagulation cascades | hsa04610 | 6.58 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Gamma-carboxylation of protein precursors | R-HSA-159740 | 9.81 |
| Gamma carboxylation, hypusine formation and arylsulfatase activation | R-HSA-163841 | 7.81 |
| Platelet degranulation | R-HSA-114608 | 6.68 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Regulation of Complement cascade | R-HSA-977606 | 8.4 |
| Immune System | R-HSA-168256 | 2.37 |
| Response to elevated platelet cytosolic Ca2+ | R-HSA-76005 | 6.59 |
| Metabolism of proteins | R-HSA-392499 | 3.41 |
| Cell surface interactions at the vascular wall | R-HSA-202733 | 6.32 |
| Gamma-carboxylation, transport, and amino-terminal cleavage of proteins | R-HSA-159854 | 9.52 |
| Complement cascade | R-HSA-166658 | 5.38 |
| Removal of aminoterminal propeptides from gamma-carboxylated proteins | R-HSA-159782 | 9.81 |
| Common Pathway of Fibrin Clot Formation | R-HSA-140875 | 8.52 |
| Post-translational protein modification | R-HSA-597592 | 4.54 |
| Formation of Fibrin Clot (Clotting Cascade) | R-HSA-140877 | 7.7 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus | R-HSA-159763 | 9.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| cation binding | GO:0043169 | 1.4 |
| metal ion binding | GO:0046872 | 1.41 |
| endopeptidase inhibitor activity | GO:0004866 | 4.6 |
| peptidase inhibitor activity | GO:0030414 | 4.55 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| peptidase regulator activity | GO:0061134 | 4.37 |
| ion binding | GO:0043167 | 1.36 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| endopeptidase regulator activity | GO:0061135 | 4.57 |
| calcium ion binding | GO:0005509 | 3.17 |