| Disease ID | Disease name | Source of annotation with CD46 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 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 |
| Measles | hsa05162 | 5.6 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Complement cascade | R-HSA-166658 | 5.38 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| Regulation of Complement cascade | R-HSA-977606 | 8.4 |
| Immune System | R-HSA-168256 | 2.37 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| endopeptidase activity | GO:0004175 | 3.63 |
| molecular transducer activity | GO:0060089 | 2.32 |
| complement binding | GO:0001848 | 6.79 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| virus receptor activity | GO:0001618 | 5.49 |
| cadherin binding | GO:0045296 | 6.41 |
| catalytic activity | GO:0003824 | 1.05 |
| cell adhesion molecule binding | GO:0050839 | 4.5 |
| peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
| receptor activity | GO:0004872 | 2.32 |
| protein binding | GO:0005515 | 0.46 |
| enzyme inhibitor activity | GO:0004857 | 3.78 |
| molecular function regulator | GO:0098772 | 2.51 |
| peptidase activity | GO:0008233 | 3.23 |
| binding | GO:0005488 | 0.18 |