CFHR5, complement factor H related 5, 81494

N. diseases: 43; N. variants: 14
Disease: dowling-degos disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.020 GeneticVariation disease BEFREE Mutations, genetic deletions, duplications or rearrangements in the individual CFHR genes are associated with a number of diseases including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathies (C3 glomerulonephritis (C3GN), dense deposit disease (DDD) and CFHR5 nephropathy), IgA nephropathy, age related macular degeneration (AMD) and systemic lupus erythematosus (SLE). 23830046 2013
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		0.020 GeneticVariation disease BEFREE We have identified specific allele variants of CFH and CFHR5 associated with the MPGN II/DDD disease phenotype. 16299065 2006