Gene table of CFH : complement factor H

Gene-disease associations table

Disease IDDisease nameSource of annotation with CFHOMIM linkNumber of associated genesgenes
609814COMPLEMENT FACTOR H DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1CFH
PS603075MACULAR DEGENERATION, AGE-RELATEDClinVar, OMIM, HUMSAVAR link to OMIM 19RAX2, HMCN1, ERCC6, TLR4, CFHR3, CFI, CFHR1, CFH, C3, HTRA1, ABCA4, CX3CR1, FBLN5, C2, CFB, CST3, APOE, ARMS2, C9
PS235400HEMOLYTIC UREMIC SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 11CFH, CFHR3, CFHR1, BAAT, CFI, THBD, C3AR1, C3, CD46, CFB, DGKE
126700BASAL LAMINAR DRUSENClinVar, OMIM link to OMIM 1CFH

Download the gene annotation in CSV format

Annotation of the gene CFH

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Complement and coagulation cascadeshsa046106.58
Staphylococcus aureus infectionhsa051506.64
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Complement cascadeR-HSA-1666585.38
Innate Immune SystemR-HSA-1682493.17
Regulation of Complement cascadeR-HSA-9776068.4
Immune SystemR-HSA-1682562.37
Associated GO terms for Molecular function
GO termGO IDGO IC
sulfur compound bindingGO:19016814.32
glycoprotein bindingGO:00019485.11
carbohydrate derivative bindingGO:00973672.03
glycosaminoglycan bindingGO:00055394.42
heparan sulfate proteoglycan bindingGO:00433956.85
proteoglycan bindingGO:00433946.34
bindingGO:00054880.18
protein bindingGO:00055150.46
heparin bindingGO:00082014.68