Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398762
Disease: Properdin deficiency disease
Properdin deficiency disease
0.010 GeneticVariation disease BEFREE Three propositi and six additional family members with properdin deficiency have been found following analysis of the hemolytic activity of the classical (CH50) and the alternative (AP50) complement pathways in the sera of 101 survivors of meningococcal infections and 59 survivors of severe pneumococcal and Haemophilus influenza infections. 8241670 1993