CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 Biomarker group BEFREE Complement factor H (CFH), an inhibitor of complement activation, is involved in the pathogenesis of various renal diseases. 30642982 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 Biomarker group BEFREE Complement factor H‑related 3 (CFHR3) belongs to the human factor H protein family and is associated with various human diseases, including nephropathy, age‑related macular degeneration and atypical hemolytic uremic syndrome. 31524260 2019
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 Biomarker group BEFREE Factor H is a circulating complement regulatory protein, and congenital or acquired deficiency of factor H is a strong risk factor for several types of kidney disease. 29389016 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group BEFREE We report pathologic changes in eyes of an fH and fP double-mutant mouse, which we previously showed have dense deposits in the GBM and early mortality from nephropathy. 30025090 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 AlteredExpression group BEFREE MSCs suppressed systemic and intrarenal activation of C5, increased the plasma levels of factor H (FH), and ameliorated renal disease in lupus mice. 29885865 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group BEFREE The role of P in atypical hemolytic uremic syndrome (aHUS) is uncertain.<b>Methods</b> We blocked P function by genetic deletion or mAb-mediated inhibition in mice carrying a factor H (FH) point mutation, W1206R (FH<sup>R/R</sup>), that causes aHUS and systemic thrombophilia with high mortality.<b>Results</b> P deficiency completely rescued FH<sup>R/R</sup> mice from premature death and prevented thrombocytopenia, hemolytic anemia, and renal disease. 29858280 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 Biomarker group BEFREE Confirming this hypothesis, could have significant implications for the study of Complement Factor- H Related Proteins (CFHRs) in renal diseases and rickettsial molecular microbiology. 28012611 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group BEFREE CKD stage, the underlying renal disease (HUS; glomerular diseases; abnormalities of kidney and urinary tract or polycystic kidney disease) and the presence of a functional renal transplant were considered as classifiers. 28570715 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group BEFREE A haplotype in CFH family genes confers high risk of rare glomerular nephropathies. 28729648 2017
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group BEFREE Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases. 26376859 2016
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group BEFREE Mutations in fH associate with several human kidney diseases, but whether inhibiting properdin would be beneficial in these diseases is unknown. 23204401 2013
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group BEFREE We report the case of a boy with a novel CFH gene mutation who presented with a membranoproliferative (MPGN) pattern of glomerular injury and developed 2 years later atypical hemolytic uremic syndrome (aHUS); this description shows that CFH alteration leads to two different renal diseases in the same patient. 22669321 2012
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group GWASCAT Genome-wide association study identifies susceptibility loci for IgA nephropathy. 21399633 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group GWASDB Genome-wide association study identifies susceptibility loci for IgA nephropathy. 21399633 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 GeneticVariation group BEFREE A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies. 22120053 2011
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 Biomarker group BEFREE In this paper we review the associations between human factor H dysfunction and renal disease and explore how observations in both spontaneous and engineered animal models of factor H dysfunction have contributed to our understanding of the pathogenesis of factor H-related renal disease. 18190458 2008
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 Biomarker group BEFREE Translational mini-review series on complement factor H: therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis. 18070148 2008
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 Biomarker group BEFREE This report emphasizes the variability in the clinical progression of kidney diseases associated with FH deficiencies. 14978182 2004
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.200 Biomarker group BEFREE Factor H and the pathogenesis of renal diseases. 10975323 2000