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CFH - complement factor H
- Synonym(s) : age-related maculopathy susceptibility 1, ARMD4, ARMS1, beta-1H, FHL1, H factor 2 (complement), HUS
- Previous symbols and names : H factor 1 (complement), HF, HF1, HF2
- Type : gene with protein product
- Chromosomal location : 1q31.3
- OMIM: 134370
- HGNC: 4883
- UniProtKB: P08603
- Genatlas: CFH
- GenCC: CFH
- Ensembl: ENSG00000000971
- IUPHAR-DB: -
- Reactome: P08603
- LOVD: CFH
Diseases list
- Disease-causing germline mutation(s) in Atypical hemolytic uremic syndrome with complement gene abnormality
ORPHA:544472 
- Disease-causing germline mutation(s) in Dense deposit disease
ORPHA:93571 - Disease-causing germline mutation(s) in Familial drusen
ORPHA:75376 - Disease-causing germline mutation(s) in Immunodeficiency with factor H anomaly
ORPHA:200421 - Disease-causing germline mutation(s) in Immunoglobulin-mediated membranoproliferative glomerulonephritis
ORPHA:329903 - Major susceptibility factor in NON RARE IN EUROPE: Age-related macular degeneration
ORPHA:279 - Biomarker tested in De novo thrombotic microangiopathy after kidney transplantation
ORPHA:244275 - Candidate gene tested in HELLP syndrome
ORPHA:244242
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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