| Disease ID | Disease name | Source of annotation with CFB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 615561 | COMPLEMENT FACTOR B DEFICIENCY | ClinVar, OMIM | link to OMIM | 1 | CFB |
| PS603075 | MACULAR DEGENERATION, AGE-RELATED | ClinVar, OMIM | link to OMIM | 19 | RAX2, HMCN1, ERCC6, TLR4, CFHR3, CFI, CFHR1, CFH, C3, HTRA1, ABCA4, CX3CR1, FBLN5, C2, CFB, CST3, APOE, ARMS2, C9 |
| PS235400 | HEMOLYTIC UREMIC SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 11 | CFH, CFHR3, CFHR1, BAAT, CFI, THBD, C3AR1, C3, CD46, CFB, DGKE |
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 |
|---|---|---|
| Innate Immune System | R-HSA-168249 | 3.17 |
| Regulation of Complement cascade | R-HSA-977606 | 8.4 |
| Immune System | R-HSA-168256 | 2.37 |
| Alternative complement activation | R-HSA-173736 | 10.66 |
| Complement cascade | R-HSA-166658 | 5.38 |
| Activation of C3 and C5 | R-HSA-174577 | 10.18 |
| Initial triggering of complement | R-HSA-166663 | 5.51 |
| 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 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| complement binding | GO:0001848 | 6.79 |
| peptidase activity | GO:0008233 | 3.23 |
| serine-type peptidase activity | GO:0008236 | 4.27 |