CFHR1, complement factor H related 1, 3078

N. diseases: 90; N. variants: 4
Disease: CFHR5 DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553720
Disease: CFHR5 DEFICIENCY
CFHR5 DEFICIENCY 		0.300 GermlineCausalMutation disease ORPHANET C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. 23728178 2013