Disease ID | Disease name | Source of annotation with F12 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
610618 | ANGIOEDEMA, HEREDITARY, TYPE III | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | F12 |
234000 | FACTOR XII DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | F12 |
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 |
---|---|---|
Formation of Fibrin Clot (Clotting Cascade) | R-HSA-140877 | 7.7 |
Hemostasis | R-HSA-109582 | 3.98 |
Intrinsic Pathway of Fibrin Clot Formation | R-HSA-140837 | 8.52 |
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 |
metal ion binding | GO:0046872 | 1.41 |
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 |
misfolded protein binding | GO:0051787 | 7.25 |
calcium ion binding | GO:0005509 | 3.17 |
protein binding | GO:0005515 | 0.46 |
peptidase activity | GO:0008233 | 3.23 |
serine-type peptidase activity | GO:0008236 | 4.27 |
binding | GO:0005488 | 0.18 |