Disease ID | Disease name | Source of annotation with C9 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
613825 | COMPLEMENT COMPONENT 9 DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | C9 |
PS603075 | MACULAR DEGENERATION, AGE-RELATED | ClinVar, OMIM, HUMSAVAR | 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 |
---|---|---|
Systemic lupus erythematosus | hsa05322 | 5.95 |
Amoebiasis | hsa05146 | 5.82 |
Complement and coagulation cascades | hsa04610 | 6.58 |
Prion diseases | hsa05020 | 7.48 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Terminal pathway of complement | R-HSA-166665 | 10.18 |
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 |