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: rs121964914
rs121964914
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. 15173250 2004
dbSNP: rs121964917
rs121964917
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. 15173250 2004
dbSNP: rs121964918
rs121964918
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. 15173250 2004
dbSNP: rs121964914
rs121964914
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121964917
rs121964917
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121964918
rs121964918
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.750 GeneticVariation BEFREE Current study showed that CFI rs141853578 (G119R) is a risk factor for developing advanced type AMD. 29392637 2019
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.750 GeneticVariation BEFREE We explored the occurrence of seven rare variants independently associated with AMD (<i>CFH</i> rs121913059 (p.Arg1210Cys), <i>CFI</i> rs141853578 (p.Gly119Arg), <i>C3</i> rs147859257 (p.Lys155Gln), and <i>C9</i> rs34882957 (p.Pro167Ser)) and three non-coding variants in or near the <i>CFH</i> gene (rs148553336, rs35292876, and rs191281603) in 24 AMD case-control studies. 29410599 2018
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.750 GeneticVariation BEFREE Carriers of CFH (Arg175Gln and Ser193Leu) and CFI (Gly119Arg and Leu131Arg) variants have an impaired ability to regulate complement activation and may benefit more from complement-inhibiting therapy than patients with AMD in general. 27918759 2017
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.750 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.750 GeneticVariation BEFREE Although these data support the conclusions of van de Ven et al. that the p.Gly119Arg substitution confers a high risk of AMD, our data suggest that this missense mutation is not as rare or as highly penetrant as previously reported. 25352734 2014
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0242383
Disease:
Age related macular degeneration 		0.750 GeneticVariation BEFREE Here, we report the identification of a rare, highly penetrant missense mutation in CFI encoding a p.Gly119Arg substitution that confers high risk of AMD (P = 3.79 × 10⁻⁶; odds ratio (OR) = 22.20, 95% confidence interval (CI) = 2.98-164.49). 23685748 2013
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0271084
Disease:
Exudative age-related macular degeneration 		0.710 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: C0271084
Disease:
Exudative age-related macular degeneration 		0.710 GeneticVariation BEFREE In our case-control study, neither of the two SNPs most studied (rs10033900 or rs2285714) in the CFI gene was a risk factor for developing nAMD or PCV in a Chinese population. 24732209 2014
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0271084
Disease:
Exudative age-related macular degeneration 		T 0.710 GeneticVariation GWASCAT 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: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs7439493
rs7439493
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs7439493
rs7439493
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0523354
Disease:
Complement factor I measurement 		A 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C1536085
Disease:
Geographic Atrophy 		0.700 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: C2237660
Disease:
exudative macular degeneration 		0.700 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0271084
Disease:
Exudative age-related macular degeneration 		0.700 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2237660
Disease:
exudative macular degeneration 		0.700 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C1536085
Disease:
Geographic Atrophy 		0.700 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs1553915717
rs1553915717
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2973529
Disease:
Leukocytoclastic vasculitis 		C 0.700 CausalMutation CLINVAR Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency. 25988862 2015
dbSNP: rs1553915717
rs1553915717
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C3463916
Disease:
Complement Factor I (C3 inactivator) deficiency 		C 0.700 CausalMutation CLINVAR Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency. 25988862 2015