CD46, CD46 molecule, 4179

N. diseases: 258; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis
0.030 GeneticVariation disease BEFREE We identified one at-risk membrane cofactor protein (MCP) haplotype for glomerulonephritis with isolated C3 deposits and membranoproliferative glomerulonephritis type I. 22456601 2012
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis
0.030 GeneticVariation disease LHGDN Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. 17914026 2008
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis
0.030 GeneticVariation disease BEFREE Mutations in complement regulatory genes were detected in 4/6 patients with glomerulonephritis C3 without MPGN (heterozygous mutations in factor H gene (two patients) with low factor H antigenic level in one case, heterozygous mutations in factor I gene (two patients)) and in only 2/13 patients with glomerulonephritis C3 with MPGN (heterozygous mutations in factor H gene (one patient) and double heterozygous mutation in CD 46 gene (one patient)). 17018561 2007