CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7
Disease: C3 glomerulopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		0.020 GeneticVariation disease BEFREE Mice with mutations in the factor H and properdin genes (FH<sup>m/m</sup>P<sup>-/-</sup>) develop early-onset C3G, with AP consumption, high proteinuria, and lethal crescentic GN.<b>Results</b> Treatment of FH<sup>m/m</sup>P<sup>-/-</sup> mice with CRIg-Fc, but not a control IgG, inhibited AP activation and diminished the consumption of plasma C3, factor B, and C5. 29895552 2018
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		0.020 GeneticVariation disease BEFREE We previously developed a mouse model of lethal C3 glomerulopathy with factor H and properdin gene double mutations. 28139294 2017