rs74315323, HJV

N. diseases: 4
Disease: Hereditary hemochromatosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.720 GeneticVariation BEFREE In addition, the HJV G320V mutant implicated in Type 2A HH did not co-immunoprecipitate with neogenin. 16103117 2005
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.720 GeneticVariation BEFREE We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek population, since 50% of cases of hereditary hemochromatosis in Greece carry mutations of the HJV gene. 15194541 2004
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.720 CausalMutation CLINVAR