| Disease ID | Disease name | Source of annotation with CFD | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 613912 | COMPLEMENT FACTOR D DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CFD |
Download the gene annotation in CSV format
| 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 |
|---|---|---|
| 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 |
| Immune System | R-HSA-168256 | 2.37 |
| Response to elevated platelet cytosolic Ca2+ | R-HSA-76005 | 6.59 |
| Alternative complement activation | R-HSA-173736 | 10.66 |
| Complement cascade | R-HSA-166658 | 5.38 |
| Initial triggering of complement | R-HSA-166663 | 5.51 |
| Hemostasis | R-HSA-109582 | 3.98 |
| 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 |
| catalytic activity | GO:0003824 | 1.05 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| peptidase activity | GO:0008233 | 3.23 |
| serine-type peptidase activity | GO:0008236 | 4.27 |