CFHR5, complement factor H related 5, 81494

N. diseases: 43; N. variants: 14
Disease: Nephrotic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 GeneticVariation group BEFREE We have identified a novel heterozygous variation in CFHR5-related nephropathy presenting with nephrotic syndrome and persistently low C3 level, thus expanding the genetic and phenotypic spectrum of the disease. 24536001 2014