| Disease ID | Disease name | Source of annotation with KNG1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 228960 | HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY | ClinVar, OMIM | link to OMIM | 1 | KNG1 |
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 |
|---|---|---|
| Gastrin-CREB signalling pathway via PKC and MAPK | R-HSA-881907 | 4.26 |
| Formation of Fibrin Clot (Clotting Cascade) | R-HSA-140877 | 7.7 |
| Signaling by GPCR | R-HSA-372790 | 2.68 |
| Platelet degranulation | R-HSA-114608 | 6.68 |
| G alpha (i) signalling events | R-HSA-418594 | 5.1 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Intrinsic Pathway of Fibrin Clot Formation | R-HSA-140837 | 8.52 |
| Response to elevated platelet cytosolic Ca2+ | R-HSA-76005 | 6.59 |
| G alpha (q) signalling events | R-HSA-416476 | 5.42 |
| Class A/1 (Rhodopsin-like receptors) | R-HSA-373076 | 4.69 |
| Peptide ligand-binding receptors | R-HSA-375276 | 5.41 |
| GPCR downstream signaling | R-HSA-388396 | 3.07 |
| GPCR ligand binding | R-HSA-500792 | 4.19 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| sulfur compound binding | GO:1901681 | 4.32 |
| 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 |
| transition metal ion binding | GO:0046914 | 2.48 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| peptidase regulator activity | GO:0061134 | 4.37 |
| receptor binding | GO:0005102 | 2.43 |
| ion binding | GO:0043167 | 1.36 |
| glycosaminoglycan binding | GO:0005539 | 4.42 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| endopeptidase regulator activity | GO:0061135 | 4.57 |
| cysteine-type endopeptidase inhibitor activity | GO:0004869 | 5.71 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| heparin binding | GO:0008201 | 4.68 |
| zinc ion binding | GO:0008270 | 2.66 |