CFHR5, complement factor H related 5, 81494

N. diseases: 43; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1305904
Disease: Familial hematuria
Familial hematuria
0.010 GeneticVariation disease BEFREE Familial hematuria (FH) is associated with at least two pathological entities: thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/COL4A4 mutations, and C3 nephropathy caused by CFHR5 mutations. 22228437 2012