Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Multivariate analysis showed that carriers of the H63D mutation infected with HBV are at higher risk to progress towards an advanced liver disease when compared with patients infected with HBV with wild-type (OR = 2.45, 95% CI = 1.07-5.58). 22012716 2011
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Hereditary hemochromatosis resulting either from homozygosity for the C282Y polymorphism of the HFE gene, or compound heterozygosity for C282Y and H63D, manifests with liver disease and hypogonadism. 20160468 2010
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Iron homeostasis and H63D mutations in alcoholics with and without liver disease. 19115475 2009
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE The present study aimed at assessing the frequency of HFE mutations (C282Y, H63D and S65C) in western Romanian patients with liver disease of diverse aetiologies suspected of iron overload. 19433916 2009
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Iron overload is not related to H63D mutation but is positively correlated with biochemical activity and Child-Pugh score in chronic liver diseases. 17410459 2007
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Measurements included serum ferritin concentration, transferrin saturation, testing for HFE C282Y and H63D, and self-reported iron overload and liver disease. 17679134 2007
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Although serum iron abnormalities are common, C282Y and H63D mutation frequencies were not increased in heavy drinkers with decompensated liver disease. 16454835 2006
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated with liver disorders, but have no measurable effect on other iron overload-related symptoms and life-expectancy. 12678056 2003
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE The purposes of this current study were to determine the prevalence of the C282Y and H63D mutations in the Balearic Islands and the genotypic characterization of patients diagnosed with HH, as well as those with iron overload and liver diseases. 11903355 2002
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys282Tyr and His63Asp) provided an opportunity to test whether they are associated with hepatic iron accumulation and the activity and severity of liver disease in hepatitis C virus (HCV) infection. 10692680 2000
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.100 GeneticVariation BEFREE To determine how HFE genotyping for the C282Y and H63D mutations contributes to the diagnosis of hemochromatosis and to determine the prevalence of HFE mutations in a group of patients with liver disease. 10383365 1999