CFHR1, complement factor H related 1, 3078

N. diseases: 90; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
0.320 GeneticVariation disease BEFREE A novel CFHR1-CFHR5 hybrid leads to a familial dominant C3 glomerulopathy. 28729035 2017
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
0.320 Biomarker disease GENOMICS_ENGLAND Reclassification of membranoproliferative glomerulonephritis: Identification of a new GN: C3GN. 27458560 2016
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
0.320 GeneticVariation disease BEFREE C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. 23728178 2013
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy
0.320 Biomarker disease GENOMICS_ENGLAND Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. 17367211 2007