Disease ID | Disease name | Source of annotation with CFH | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
609814 | COMPLEMENT FACTOR H DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | CFH |
PS603075 | MACULAR DEGENERATION, AGE-RELATED | ClinVar, 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 |
126700 | BASAL LAMINAR DRUSEN | ClinVar, OMIM | link to OMIM | 1 | CFH |
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 |
---|---|---|
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 |
---|---|---|
sulfur compound binding | GO:1901681 | 4.32 |
glycoprotein binding | GO:0001948 | 5.11 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
glycosaminoglycan binding | GO:0005539 | 4.42 |
heparan sulfate proteoglycan binding | GO:0043395 | 6.85 |
proteoglycan binding | GO:0043394 | 6.34 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
heparin binding | GO:0008201 | 4.68 |