| Disease ID | Disease name | Source of annotation with MASP2 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS614372 | LECTIN COMPLEMENT ACTIVATION PATHWAY DEFECTS | OMIM, HUMSAVAR | link to OMIM | 3 | FCN3, MBL2, MASP2 |
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| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Complement and coagulation cascades | hsa04610 | 6.58 |
| Staphylococcus aureus infection | hsa05150 | 6.64 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Creation of C4 and C2 activators | R-HSA-166786 | 5.58 |
| Ficolins bind to repetitive carbohydrate structures on the target cell surface | R-HSA-2855086 | 10.66 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| Immune System | R-HSA-168256 | 2.37 |
| Complement cascade | R-HSA-166658 | 5.38 |
| Initial triggering of complement | R-HSA-166663 | 5.51 |
| Lectin pathway of complement activation | R-HSA-166662 | 10.4 |
| 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 |
| calcium ion binding | GO:0005509 | 3.17 |
| calcium-dependent protein binding | GO:0048306 | 5.68 |
| metal ion binding | GO:0046872 | 1.41 |
| serine hydrolase activity | GO:0017171 | 4.26 |
| cation binding | GO:0043169 | 1.4 |
| ion binding | GO:0043167 | 1.36 |
| serine-type peptidase activity | GO:0008236 | 4.27 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| complement binding | GO:0001848 | 6.79 |
| peptidase activity | GO:0008233 | 3.23 |
| opsonin binding | GO:0001846 | 7.34 |
| complement component C4b binding | GO:0001855 | 9.05 |