Disease: Iron Overload ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Iron Overload
CUI: C0282193
Disease: Iron Overload
0.020 GeneticVariation BEFREE The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease. 12547237 2003
Iron Overload
CUI: C0282193
Disease: Iron Overload
0.020 GeneticVariation BEFREE We conclude that Y250X is uncommon in Caucasians with hemochromatosis associated with atypical HFE genotypes, in African Americans with primary iron overload, and in the general Caucasian and African American population subgroups in central Alabama. 11358388 2001