TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE In GBM, a highly significant correlation (p<0.0001) was found between the expression level of TfR2 and overall survival, showing that higher levels of TfR2 expression were associated with an overall longer survival. 25891893 2015
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 PosttranslationalModification disease BEFREE Variability of the transferrin receptor 2 gene in AMD. 24648608 2014
CUI: C0018801
Disease: Heart failure
Heart failure 		0.010 GeneticVariation disease BEFREE Mutations in TfR2 cause one form of hereditary hemochromatosis, a disease in which excessive absorption of dietary iron can lead to liver cirrhosis, diabetes, arthritis, and heart failure. 15319290 2004
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Mutations in the Hjv and TfR2 gene cause hemochromatosis. 16932966 2007
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor. 17124037 2006
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE New TFR2 mutations in young Italian patients with hemochromatosis. 18245657 2008
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Recently, two new types of hemochromatosis have been identified: Juvenile hemochromatosis (JH or HFE2), which maps to chromosome 1q21, and an adult form defined as HFE 3, which results from mutations of the TFR 2 gene, located at 7q22. 11778658 2002
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 AlteredExpression disease BEFREE Individuals with pathogenic mutations in HFE, hemojuvelin (HJV) and transferrin receptor 2 (TfR2) have low levels of hepcidin, but little is known about the hepatic expression of these molecules in patients with physiological iron overload or HFE associated Hemochromatosis (HH). 17098454 2007
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile hemochromatosis), type 3 hemochromatosis (transferrin receptor 2 hemochromatosis), type 4 (A and B) hemochromatosis (ferroportin disease), and a(hypo)ceruloplasminemia. 18430498 2008
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease). 24321703 2014
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease CTD_human Mutations of TfR2 in humans cause type 3 hereditary hemochromatosis. 17241880 2007
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The genetics of these less common forms was intensively studied between 2000 and 2004, leading to the recognition of haemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin-related haemochromatosis, and opening the way for novel hypotheses such as those related to digenic modes of inheritance or the involvement of modifier genes. 16132052 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The hepcidin response was smaller in C282Y-homozygotes than in controls, barely detectable in the patients with iron-depleted HFE-hemochromatosis and absent in those with TFR2-hemochromatosis. 21173098 2011
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Recently, a mutation in the gene encoding transferrin receptor-2 (exon 6, nucleotide 750 C --> G; Y250X) was detected by a PCR-restriction fragment length polymorphism (RFLP) method in Sicilians with hemochromatosis. 11551099 2001
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease 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
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Human hemochromatosis (HC) has been associated with the common C282Y polymorphism of HFE or rare pathogenic mutations of TfR2, HJV, FPN and HAMP. 20863724 2010
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE The liver is strongly involved when iron excess is related either to hepcidin deficiency, as in HFE, hemojuvelin, hepcidin, and transferrin receptor 2 related haemochromatosis, or to hepcidin resistance, as in type B ferroportin disease. 26596411 2016
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients. 15749661 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE No individual presented either the mutation at position 845 of the HFE gene or at position 750 of the TFR2 gene, associated with other types of hemochromatosis. 12064925 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood. 28276324 2017