TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 AlteredExpression disease BEFREE Iron was measured in tissues and blood from groups of animals 7 weeks after weaning in three different mouse models expressing a transgene in epidermis: a hyperproliferation model in which the HPV16 E7 gene causes a 3-fold increase in epidermal turnover; an epidermal iron sink model in which overexpression of the transferrin receptor causes a 3-4 fold increase of iron in epidermis; a systemic hemochromatosis knockout model that has been crossed with the epidermal iron sink model. 22575277 2012
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease BEFREE Immunohistochemistry (IHC) of white matter for ceruloplasmin (Cp), haemochromatosis (HFE) and transferrin receptor (TfR) was done. 21979376 2011
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease BEFREE The gene of haemochromatosis (HFE) encodes the HFE protein which interacts with the transferrin receptor (TFR), lowering its affinity for iron-bound transferrin (TF). 21384276 2011
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 GeneticVariation disease BEFREE An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1. 18157833 2008
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 GeneticVariation disease BEFREE To understand the role of hemochromatosis and transferrin receptor system mutations in breast cancer, we analyzed 19 sequence variations at HFE, TFR1, TFR2, and FPN1 and compared genotype frequencies between cases and controls in a German population. 15894659 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease LHGDN Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells. 15880641 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 GeneticVariation disease BEFREE Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population. 15698609 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease BEFREE The soluble transferrin receptor as a marker of iron homeostasis in normal subjects and in HFE-related hemochromatosis. 15642666 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 GeneticVariation disease BEFREE Hemochromatosis and transferrin receptor gene polymorphisms in chronic hepatitis C: impact on iron status, liver injury and HCV genotype. 14557859 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 GeneticVariation disease LHGDN A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. 11783942 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease BEFREE Duodenal expression of a putative stimulator of Fe transport and transferrin receptor in anemia and hemochromatosis. 11313310 2001
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease BEFREE Interaction between haemochromatosis and transferrin receptor genes in hepatocellular carcinoma. 11096344 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 GeneticVariation disease BEFREE TfR2 has a pattern of expression and regulation that is distinct from TfR, and mutations in TfR2 have been recognized as the cause of a non-HFE linked form of hemochromatosis (Camaschella, C., Roetto, A., Cali, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., and Gasparini, P. (2000) Nat.Genet.25, 14-15). 11027676 2000
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease BEFREE Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. 10383894 1999
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 AlteredExpression disease BEFREE Hepatic transferrin, transferrin receptor and ferritin protein expression was localized predominantly to hepatocytes and was increased in patients with genetic haemochromatosis when compared with normal controls. 9715407 1998
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease BEFREE It was concluded that there is no evidence of generalized dysregulation of the transferrin receptor in hemochromatosis or African siderosis. 8178799 1994
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
0.100 Biomarker disease BEFREE We have looked for genes for ferritin and its translational control protein that could account for anomalies in the expression of ferritin (FT) and the transferrin receptor in the duodenum of individuals with hemochromatosis (HC). 8045562 1994