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: rs1553915717
rs1553915717
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0151436
Disease:
Vasculitis, Leukocytoclastic, Cutaneous 		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: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C3809523
Disease:
MACULAR DEGENERATION, AGE-RELATED, 13 		0.700 GeneticVariation UNIPROT A functional variant in the CFI gene confers a high risk of age-related macular degeneration. 23685748 2013
dbSNP: rs10033900
rs10033900
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2237660
Disease:
exudative macular degeneration 		T 0.700 GeneticVariation GWASCAT Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344 2012
dbSNP: rs368615806
rs368615806
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		A 0.700 GeneticVariation CLINVAR Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. 22710145 2012
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824 2010
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs182078921
rs182078921
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs61733901
rs61733901
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs769419740
rs769419740
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs773187287
rs773187287
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853 2009
dbSNP: rs121964912
rs121964912
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C3463916
Disease:
Complement Factor I (C3 inactivator) deficiency 		0.700 GeneticVariation UNIPROT Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 17018561 2007
dbSNP: rs121964916
rs121964916
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C3463916
Disease:
Complement Factor I (C3 inactivator) deficiency 		0.700 GeneticVariation UNIPROT Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 17018561 2007
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. 17106690 2007
dbSNP: rs182078921
rs182078921
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. 17106690 2007
dbSNP: rs61733901
rs61733901
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. 17106690 2007
dbSNP: rs769419740
rs769419740
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. 17106690 2007
dbSNP: rs773187287
rs773187287
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. 17106690 2007
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs182078921
rs182078921
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs61733901
rs61733901
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs769419740
rs769419740
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs773187287
rs773187287
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965 2006
dbSNP: rs141853578
rs141853578
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. 15173250 2004
dbSNP: rs182078921
rs182078921
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C2752039
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation UNIPROT Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. 15173250 2004