CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Source: ALL
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 Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis. 23204401 2013