Disease ID | Disease name | Source of annotation with C3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
613779 | COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE | OMIM, HUMSAVAR | link to OMIM | 1 | C3 |
PS603075 | MACULAR DEGENERATION, AGE-RELATED | OMIM, HUMSAVAR | 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 |
---|---|---|
Pertussis | hsa05133 | 6.46 |
Complement and coagulation cascades | hsa04610 | 6.58 |
Legionellosis | hsa05134 | 6.88 |
Systemic lupus erythematosus | hsa05322 | 5.95 |
Viral carcinogenesis | hsa05203 | 5.08 |
Chagas disease (American trypanosomiasis) | hsa05142 | 5.99 |
Leishmaniasis | hsa05140 | 6.32 |
Phagosome | hsa04145 | 5.27 |
Staphylococcus aureus infection | hsa05150 | 6.64 |
Tuberculosis | hsa05152 | 5.17 |
Herpes simplex infection | hsa05168 | 5.08 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Signaling by GPCR | R-HSA-372790 | 2.68 |
G alpha (i) signalling events | R-HSA-418594 | 5.1 |
Class A/1 (Rhodopsin-like receptors) | R-HSA-373076 | 4.69 |
Regulation of Complement cascade | R-HSA-977606 | 8.4 |
Immune System | R-HSA-168256 | 2.37 |
Peptide ligand-binding receptors | R-HSA-375276 | 5.41 |
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 |
GPCR downstream signaling | R-HSA-388396 | 3.07 |
Innate Immune System | R-HSA-168249 | 3.17 |
GPCR ligand binding | R-HSA-500792 | 4.19 |
Adaptive Immune System | R-HSA-1280218 | 3.19 |
Signal Transduction | R-HSA-162582 | 1.78 |
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | R-HSA-198933 | 4.7 |
GO term | GO ID | GO IC |
---|---|---|
serine-type endopeptidase activity | GO:0004252 | 4.4 |
endopeptidase activity | GO:0004175 | 3.63 |
peptidase inhibitor activity | GO:0030414 | 4.55 |
binding | GO:0005488 | 0.18 |
C5a anaphylatoxin chemotactic receptor binding | GO:0031714 | 9.74 |
C5L2 anaphylatoxin chemotactic receptor binding | GO:0031715 | 9.74 |
G-protein coupled receptor binding | GO:0001664 | 4.18 |
enzyme inhibitor activity | GO:0004857 | 3.78 |
molecular function regulator | GO:0098772 | 2.51 |
peptidase activity | GO:0008233 | 3.23 |
serine-type peptidase activity | GO:0008236 | 4.27 |
endopeptidase regulator activity | GO:0061135 | 4.57 |
hydrolase activity | GO:0016787 | 1.9 |
serine hydrolase activity | GO:0017171 | 4.26 |
enzyme regulator activity | GO:0030234 | 2.85 |
peptidase regulator activity | GO:0061134 | 4.37 |
lipid binding | GO:0008289 | 3.26 |
catalytic activity | GO:0003824 | 1.05 |
cofactor binding | GO:0048037 | 4.16 |
endopeptidase inhibitor activity | GO:0004866 | 4.6 |
peptidase activity, acting on L-amino acid peptides | GO:0070011 | 3.26 |
protein binding | GO:0005515 | 0.46 |
receptor binding | GO:0005102 | 2.43 |