Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE A diagnosis of liver cancer or cirrhosis is rare in the lifetime of individuals from this population who are homozygous for the C282Y mutation (2.5%; upper 95% confidence interval (CI) = 8%). 10673304 2000
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE In this study we analyzed the livers of 50 transplant patients with a diagnosis of either hepatitis C cirrhosis or cryptogenic cirrhosis for the prevalence of the more common C282Y mutation of the HFE gene and correlated the findings to hepatic iron concentration. 11079015 2000
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE The results indicate that HH patients with the HFE C282Y mutation and low numbers of CD8+ cells in the liver lobuli have higher iron stores and are more prone to develop liver cirrhosis. 11168438 2001
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Only a minority of our patients with hemochromatosis had a far advanced disease at the time of diagnosis (less than 5% had cirrhosis) and hemochromatosis in a majority of the C282Y mutation negative patients was associated with excessive oral iron intake for several years. 11199371 2000
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis? 11232708 2001
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE The aims of this study were to define the prevalence of the mutations 845G --> A and 187C --> G (C282Y and H63D) in the HFE gene associated with hereditary hemochromatosis in Italian patients with hepatocellular carcinoma occurring in cirrhosis and to analyze the interaction between these mutations and other established risk factors for hepatocellular carcinoma. 11500061 2001
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Mean lymphocyte numbers were lower in C282Y homozygous HHC index subjects with cirrhosis and higher iron stores than in those without cirrhosis and with lower iron burdens [(1.65 +/- 0.43) x 10(6)/mL vs. (2.27 +/- 0.49) x 10(6)/mL; p = 0.008]. 11722599 2001
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Forty-five per cent of the C282Y homozygotes detected already had cirrhosis. 11953685 2002
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE The aim of this study was to investigate the association between HFE gene mutations (C282Y, H63D) and hepatocellular carcinoma in patients with alcoholic and virus-related cirrhosis. 12003382 2002
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Heavy HIOL was noted in C282Y homozygotes and 1 patient with cirrhosis without either HFE mutation. 12109859 2002
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE None of the 12 C282Y homozygotes had cardiac dysfunction or hepatic cirrhosis. 12482402 2003
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE C282Y or H63D heterozygosity is an independent risk factor for liver fibrosis and cirrhosis in HCV infected individuals. 12586300 2003
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Except for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients with cirrhosis. 12591066 2003
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE C282Y and H63D mutations do not appear to be associated with an increased risk of HCC in patients with cirrhosis. 12865278 2003
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Other recent evidence indicates that the prevalence of HFE gene mutations is increased in chronic viral hepatitis and that patients with chronic hepatitis C harboring especially the C282Y mutation are more likely to suffer from advanced hepatic fibrosis or cirrhosis and to do so at younger ages. 12957298 2003
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE In HCV-infected patients, heterozygosity for the C282Y mutation in HFE was significantly associated with elevated serum ferritin levels, stainable liver iron, and advanced fibrosis or c</span>irrhosis (F2-F4). 14557859 2003
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE The C282Y and the H63D mutation of the HFE gene were analyzed in 137 patients with HCC and no history of HH, 107 patients with cirrhosis without HCC and 126 healthy controls. 15017669 2003
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE For C282Y heterozygous patients, the odds ratios for marked inflammatory activity (A2-4) and advanced liver fibrosis or cirrhosis (F2-4) are 4.9 and 4.6, respectively, compared with patients carrying homozygous wild-type alleles. 15287851 2004
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis. 16802007 2006
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Among Caucasians, C282Y heterozygotes were more likely to have bridging fibrosis or cirrhosis (44% versus 21% [P = 0.05]) and stainable hepatic iron (50% versus 16% [P = 0.011]) compared with patients with other genotypes. 17680648 2007
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE A small but significant number of Norwegian male C282Y homozygotes will contract liver cirrhosis if their hemochromatosis is not diagnosed and treated in time. 17710673 2007
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Liver iron overload and C282Y mutation are associated with a higher risk of HCC in patients with alcoholic but not HCV-related cirrhosis. 18061182 2008
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Liver biopsy is recommended when ferritin exceeds 1000 microg/l to establish the presence or absence of cirrhosis, which will affect prognosis and management. iron accumulation confirmed by magnetic resonance imaging (MRI) in the absence of the homozygous C282Y mutation or the combined C282Y/H63d genotype may justify a search for rare hereditary forms of non-HFE HH in a specialised centre. 18079569 2007
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis. 19930418 2010
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.100 GeneticVariation BEFREE Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis. 20583211 2010