TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Iron Overload ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. 12681966 2003
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. 12130528 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 AlteredExpression disease BEFREE Transferrin receptor 2 is primarily expressed in the liver but it is unclear how mutant forms cause iron overload. 12382200 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE In particular, the identification of the haemochromatosis gene (HFE) and more recently the transferrin receptor 2 gene (TfR2) together with the specific mutations in these genes which result in hepatic iron overload, has enhanced our understanding of the pathophysiology of haemochromatosis. 11886477 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease LHGDN The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. 12130528 2002
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Finally, we also tested for this TFR2 mutation 20 H63D homozygotes with milder manifestations of iron overload and no acquired cause of iron overload. 11358390 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Thus, mutations in the transferrin receptor-2 gene were not responsible for the iron overload seen in our subjects. 11358389 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 Biomarker disease BEFREE Identification of HFE, the gene most commonly mutated in patients with hereditary hemochromatosis, has allowed molecular diagnosis and paved the way for identification of other genes, such as TFR2, that are important in non-HFE-associated iron overload. 11673399 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE The identification of new mutations of TFR2 confirms that this gene is associated with iron overload and offers a tool for molecular diagnosis in patients without HFE mutations. 11313241 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 GeneticVariation disease BEFREE Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. 11358388 2001
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 AlteredExpression disease BEFREE To determine the potential role for TfR2 in iron uptake by liver, we investigated TfR and TfR2 expression in normal mice and murine models of dietary iron overload (2% carbonyl iron), dietary iron deficiency (gastric parietal cell ablation), and HH (HFE -/-). 10681454 2000