CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
Disease: Complement Factor I (C3 inactivator) deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 GeneticVariation disease BEFREE Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations. 28942469 2017
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 CausalMutation disease CLINVAR Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency. 25988862 2015
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 GeneticVariation disease BEFREE Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency. 25988862 2015
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis. 24142231 2013
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 GeneticVariation disease UNIPROT Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 17018561 2007
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 GeneticVariation disease UNIPROT Molecular characterization of homozygous hereditary factor I deficiency. 12562389 2003
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 GeneticVariation disease UNIPROT The molecular basis of hereditary complement factor I deficiency. 8613545 1996
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 GermlineCausalMutation disease ORPHANET
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		0.720 Biomarker disease CTD_human