CFHR5, complement factor H related 5, 81494

N. diseases: 43; N. variants: 14
Disease: Thin basement membrane disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease 		0.010 GeneticVariation disease BEFREE Our study included 102 thin basement membrane nephropathy (TBMN) patients with three known COL4A3/COL4A4 mutations (cohort A), 83 CFHR5/C3 glomerulopathy patients (cohort B) with a single CFHR5 mutation and 15 Alport syndrome patients (cohort C) with two known COL4A5 mild mutations, who were categorized as "Mild" (controls) or "Severe" (cases), based on renal manifestations. 23516419 2013