CFI, complement factor I, 3426

N. diseases: 133; N. variants: 25
Disease: Complement deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.310 Biomarker group BEFREE This study points out that capillary protein electrophoresis can alert of possible states of low C3, which, once confirmed and common causes ruled out, can lead to CFI and other complement deficiency diagnosis. 27091480 2016
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.310 Biomarker group GENOMICS_ENGLAND Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis. 24142231 2013