Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Membranoproliferative Glomerulonephritis, Type II
0.700 Biomarker disease GENOMICS_ENGLAND Reclassification of membranoproliferative glomerulonephritis: Identification of a new GN: C3GN. 27458560 2016
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations. 26915021 2016
Membranoproliferative Glomerulonephritis, Type II
0.700 Biomarker disease BEFREE Complement factor H-related hybrid protein deregulates complement in dense deposit disease. 24334459 2014
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Dense deposit disease (DDD) is a rare renal disease related to the dysregulation of the alternative pathway of the complement cascade, caused by several factors including the presence of an autoantibody to C3 nephritic factor, mutations in factor H and autoantibodies to this protein. 24338037 2014
Membranoproliferative Glomerulonephritis, Type II
0.700 GermlineCausalMutation disease ORPHANET Gene polymorphism of complement factor H in a Turkish patient with membranoproliferative glomerulonephritis type II. 22388616 2012
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE CFH I890 and L1007 are two genetic variations repeatedly associated with atypical hemolytic uremic syndrome and also found in patients with dense deposit disease and age-related macular degeneration. 21881555 2012
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE The complement factor H Y402H variant was significantly increased in dense deposit disease. 22456601 2012
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Gene polymorphism of complement factor H in a Turkish patient with membranoproliferative glomerulonephritis type II. 22388616 2012
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration. 21270465 2011
Membranoproliferative Glomerulonephritis, Type II
0.700 Biomarker disease BEFREE Abnormalities in factor H have been rarely described in patients with membranoproliferative glomerulonephritis type II. 21396679 2011
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE We report three hypocomplementemic children with dense deposit disease (n=1) or immune-complex-mediated MPGN type I (n=2), associated with both C3NeF activity and heterozygous mutation of factor H or factor I. 21188423 2011
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Mutations and SNPs (single nucleotide polymorphisms) in Factor H have been implicated in a variety of human conditions including age-related macular degeneration (AMD), atypical hemolytic uremic syndrome, and membranoproliferative glomuleronephritis type II or dense deposit disease. 20385334 2010
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Complement factor H (CFH) is a key regulator of the alternative pathway of complement and its mutations have been associated with membranoproliferative glomerulonephritis type II, atypical hemolytic uremic syndrome and age-related macular degeneration (AMD), suggesting that alternative pathway dysregulation is a common pathogenetic feature of these ocular and renal conditions. 18340363 2008
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Dense deposit disease and the factor H H402 allele. 18224273 2008
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Mutations in the Factor H gene are associated with severe and diverse diseases including the rare renal disorders hemolytic uremic syndrome (HUS) and membranoproliferative glomerulonephritis (MPGN) also termed dense deposit disease (DDD), as well as the more frequent retinal disease age related macular degeneration (AMD). 19388168 2008
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protective for age-related macular degeneration and dense deposit disease) causes rearrangements within the module 1 core and increases thermal stability but does not disturb the interface with module 2. 18252712 2008
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Haplotype mapping has shown at-risk phenotypes of complement factor H associated with the development of dense deposit disease. 17420663 2007
Membranoproliferative Glomerulonephritis, Type II
0.700 Biomarker disease BEFREE We show that these mice, transgenically expressing a mouse FH protein functionally equivalent to aHUS-associated human FH mutants, regulate C3 activation in plasma and spontaneously develop aHUS but not MPGN2. 17517971 2007
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). 16299065 2006
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE Missense mutations in the C-terminal region of Factor H are associated with atypical hemolytic uremic syndrome, whereas homozygous Factor H deficiency is more frequently associated with membranoproliferative glomerulonephritis type II (MPGN II).The report of Licht et al. of a mutation in the complement-regulatory N-terminal region of Factor H in MPGN II provides additional insight into the pathogenesis of this condition. 16810287 2006
Membranoproliferative Glomerulonephritis, Type II
0.700 Biomarker disease BEFREE Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). 16612335 2006
Membranoproliferative Glomerulonephritis, Type II
0.700 Biomarker disease CTD_human Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 14978182 2004
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II: point mutations in the factor H coding sequence block protein secretion. 12466119 2002
Membranoproliferative Glomerulonephritis, Type II
0.700 GeneticVariation disease BEFREE In addition, matings of certain Yorkshire pigs result in offspring that are homozygous deficient in factor H and have a high incidence of a severe hypocomplementemic glomerulonephritis closely resembling membranoproliferative glomerulonephritis type II. 7985676 1994