TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: HFE-Associated Hereditary Hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2827503
Disease: HFE-Associated Hereditary Hemochromatosis
HFE-Associated Hereditary Hemochromatosis 		0.020 GeneticVariation disease BEFREE Mutations in TfR2 result in iron overload with similar features to HFE-associated hereditary hemochromatosis. 18094142 2008
CUI: C2827503
Disease: HFE-Associated Hereditary Hemochromatosis
HFE-Associated Hereditary Hemochromatosis 		0.020 GeneticVariation disease BEFREE Homozygous defects in a recently identified gene encoding transferrin receptor 2 lead to iron overload (hemochromatosis type 3) with symptoms similar to those seen in patients with HFE-associated hereditary hemochromatosis (hemochromatosis type 1). 12382200 2002