Disease ID | Disease name | Source of annotation with MASP1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS257920 | 3MC SYNDROME | ClinVar, OMIM | link to OMIM | 2 | MASP1, COLEC11 |
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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 |
Scavenging by Class A Receptors | R-HSA-3000480 | 8.73 |
Binding and Uptake of Ligands by Scavenger Receptors | R-HSA-2173782 | 5.38 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
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 |
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 |
protein dimerization activity | GO:0046983 | 2.72 |
protein homodimerization activity | GO:0042803 | 3.16 |
peptidase activity | GO:0008233 | 3.23 |
identical protein binding | GO:0042802 | 2.63 |
serine-type peptidase activity | GO:0008236 | 4.27 |