| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Liver Cirrhosis
|
0.100 | GeneticVariation | BEFREE | Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis. | 28617828 | 2017 | |||||
Liver Cirrhosis
|
0.100 | GeneticVariation | BEFREE | The frequencies of HD genotype of H63D mutation were significantly increased in HCC patients compared to control group and to cirrhosis group. | 21925577 | 2011 | |||||
Liver Cirrhosis
|
0.100 | GeneticVariation | BEFREE | The presence of the relatively high frequency of A1AT S and HFE H63D allele carriers in Egyptian cases of HCV liver cirrhosis suggest the necessity to implement routine molecular analysis of these genes for detection of risk genotypes among affected families. | 16802007 | 2006 | |||||
Liver Cirrhosis
|
0.100 | GeneticVariation | BEFREE | H63D heterozygote and homozygote, occurring in less than 5% of the subjects, tended to be associated with the development of liver cirrhosis, irrespective of viral etiology. | 15780041 | 2005 | |||||
Liver Cirrhosis
|
0.100 | GeneticVariation | BEFREE | HFE mutations (C282Y and H63D) were assessed in 162 consecutive patients (131 men/31 women) with HCC.A total of 159 patients had cirrhosis. | 12591066 | 2003 | |||||
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
|
0.100 | GeneticVariation | BEFREE | By multivariate logistic regression analysis the odds ratio for the development of advanced fibrosis or cirrhosis (F2-F4) was 2.5 for HCV-infected patients carrying a heterozygous C282Y mutation and 4.8 for HCV-infected patients with C282Y/H63D and C282Y/S65C compound heterozygosity. | 14557859 | 2003 | |||||
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
|
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
|
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
|
0.100 | GeneticVariation | BEFREE | The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality associated with the H63D mutation of the HFE gene is proposed. | 11473464 | 2001 |