Disease ID | Disease name | Source of annotation with C2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
217000 | COMPLEMENT COMPONENT 2 DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | C2 |
PS603075 | MACULAR DEGENERATION, AGE-RELATED | ClinVar, OMIM | link to OMIM | 19 | RAX2, CFB, ERCC6, TLR4, CFHR3, CFHR1, HMCN1, CFI, CFH, C3, HTRA1, ABCA4, CX3CR1, FBLN5, C2, APOE, CST3, ARMS2, C9 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Pertussis | hsa05133 | 6.46 |
Systemic lupus erythematosus | hsa05322 | 5.95 |
Complement and coagulation cascades | hsa04610 | 6.58 |
Staphylococcus aureus infection | hsa05150 | 6.64 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Immune System | R-HSA-168256 | 2.37 |
Regulation of Complement cascade | R-HSA-977606 | 8.4 |
Innate Immune System | R-HSA-168249 | 3.17 |
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 |
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 |
peptidase activity | GO:0008233 | 3.23 |
metal ion binding | GO:0046872 | 1.41 |
serine-type peptidase activity | GO:0008236 | 4.27 |