CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
Disease: Hemolytic-Uremic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.160 GeneticVariation disease BEFREE Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation. 22903728 2012
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.160 GeneticVariation disease LHGDN Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient. 18805611 2009
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.160 GeneticVariation disease BEFREE Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome. 17597211 2008
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.160 Biomarker disease LHGDN Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. 17599974 2007
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.160 GeneticVariation disease LHGDN Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. 16386793 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.160 GeneticVariation disease BEFREE This study looked for IF mutations in a panel of 76 patients with HUS. 15917334 2005
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome 		0.160 Biomarker disease HPO