CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 ×
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 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
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: 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