CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.840 GeneticVariation BEFREE Con-clusion: CFI rs10033900 and rs2285714 polymorphisms in a Turkish population were not associated with AMD. 31614353 2019
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.840 GeneticVariation BEFREE To determine the impact of <i>HTRA1</i> rs1120638, <i>TIMP3</i> rs9621532, <i>VEGFA</i> rs833068, <i>CFI</i> rs10033900, <i>ERCC6</i> rs3793784, and <i>KCTD10</i> rs56209061 genotypes on the development of age-related macular degeneration (AMD) in the Lithuanian population. 31583032 2019
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.840 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		T 0.840 GeneticVariation GWASDB Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344 2012
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		T 0.840 GeneticVariation GWASDB Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990 2011
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		T 0.840 GeneticVariation GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990 2011
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.840 GeneticVariation BEFREE Individuals with the homozygous CFI rs10033900 TT genotype had a 2.9 [1.2-7.2]-fold increased risk, and those with the CFH Y402H GG genotype had a 2.2 [1.0-4.8]-fold higher risk of developing AMD compared with non-carriers. 21906714 2011
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.840 GeneticVariation GWASCAT Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826 2010
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.840 GeneticVariation BEFREE There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possible interaction effect between LIPC and both CFH rs10033900 and the complement factor I (CFI) variants in terms of risk of AMD. 21139980 2010
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.840 GeneticVariation GWASDB Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826 2010
dbSNP: rs121964914
rs121964914
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824 2010
dbSNP: rs121964914
rs121964914
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs121964917
rs121964917
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs121964917
rs121964917
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824 2010
dbSNP: rs121964918
rs121964918
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824 2010
dbSNP: rs121964918
rs121964918
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs121964914
rs121964914
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853 2009
dbSNP: rs121964917
rs121964917
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853 2009
dbSNP: rs121964918
rs121964918
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853 2009
dbSNP: rs121964914
rs121964914
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. 17106690 2007
dbSNP: rs121964917
rs121964917
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. 17106690 2007
dbSNP: rs121964918
rs121964918
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. 17106690 2007
dbSNP: rs121964914
rs121964914
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs121964917
rs121964917
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs121964918
rs121964918
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006