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: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.010 AlteredExpression disease BEFREE Levels of expression of TfR2-alpha mRNA were significantly higher in erythroleukemia (M6) marrow samples than in nonmalignant control marrow samples. 11675342 2001
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 GeneticVariation disease BEFREE We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). 15863206 2005
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 GeneticVariation disease BEFREE We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). 15863206 2005
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 GeneticVariation disease BEFREE We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). 15863206 2005
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.010 AlteredExpression disease BEFREE Levels of expression of TfR2-alpha mRNA were significantly higher in erythroleukemia (M6) marrow samples than in nonmalignant control marrow samples. 11675342 2001
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		0.010 AlteredExpression disease BEFREE In addition, relatively higher levels of TfR2-alpha mRNA expression occurred in some samples of myelodysplastic syndrome that had erythroid hyperplasia in bone marrow, acute myelogenous leukemia M1, M2, and chronic myelogenous leukemia. 11675342 2001
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 GeneticVariation disease BEFREE In the present study, we analyzed the association between AMD and the -576G>A polymorphism of the transferrin gene or the 1892C>T polymorphism of the transferrin receptor 2 (TFR2) gene in 278 patients with AMD and 105 controls. 21422745 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 GeneticVariation disease BEFREE To verify this hypothesis we assessed the association between polymorphisms of the TFR2 gene and AMD. 24648608 2014
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.130 AlteredExpression disease BEFREE Embryos with transferrin-a or transferrin receptor 2 (TfR2) deficiency exhibited low levels of hepcidin expression, however anemia, in the absence of a defect in the transferrin pathway, failed to impair hepcidin expression. 19047682 2009
CUI: C0002871
Disease: Anemia
Anemia 		0.130 GeneticVariation disease BEFREE Variants rs3811647 in TF and rs7385804 in TFR2 were associated with reduced SI, serum transferrin and transferrin saturation levels; however, these variants were not associated with iron deficiency or anemia risk. 22323359 2012
CUI: C0002871
Disease: Anemia
Anemia 		0.130 GeneticVariation disease BEFREE We thus detected the novel TFR2 missense mutation I449V (exon 10; nt 1345 A --> G) in the proband's wife and daughter, neither of whom had anemia or iron overload. 16540354 2006
CUI: C0002871
Disease: Anemia
Anemia 		0.130 Biomarker disease HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.010 AlteredExpression disease BEFREE There were marked abnormalities in iron regulation gene expression between the AA and composite model groups, as seen by the significant decrease of hepcidin expression in the liver (P<0.01) that paralleled the changes in BMP6, SMAD4, and TfR2. 29434729 2018
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.010 Biomarker phenotype BEFREE TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood. 28276324 2017
CUI: C0003864
Disease: Arthritis
Arthritis 		0.100 Biomarker disease HPO
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE We investigated the mRNA levels of hepcidin (HAMP), HFE, neogenin (NEO1), transferrin receptor 1 (TFRC), transferrin receptor 2 (TFR2), and hemojuvelin (HFE2) in normal human brain, brain tumors, and astrocytoma cell lines. 19386095 2009
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.310 Biomarker disease CTD_human mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. 16755567 2006
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.310 AlteredExpression disease BEFREE We found decreased expression of hepcidin and TfR2 and increased expression of TfR1 and NGAL in the beta-thalassemia mouse models, compared with the control mice. 16755567 2006
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.010 GeneticVariation disease BEFREE Furthermore, we analyze multiple murine genetic models of iron dysregulation, including β-thalassemia intermedia (Hbb(th3/+)), hereditary hemochromatosis (Hfe(-/-), Hjv(-/-), and Tfr2(Y245X/Y245X)), hypotransferrinemia (Trf(hpx/hpx)), heterozygous transferrin receptor 1 deficiency (Tfrc(+/-)) and iron refractory iron deficiency anemia (Tmprss6(-/-) and Tmprss6(hem8/hem8)). 25425686 2015
CUI: C0878521
Disease: Beta thalassemia trait
Beta thalassemia trait 		0.010 Biomarker disease BEFREE As observed in HFE hemochromatosis, the beta-thalassemia trait seems to aggravate the clinical picture of patients lacking TFR2, favoring higher rates of iron accumulation probably by activation of the erythroid iron regulator. 15059075 2004
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.010 AlteredExpression disease BEFREE We found decreased expression of hepcidin and TfR2 and increased expression of TfR1 and NGAL in the beta-thalassemia mouse models, compared with the control mice. 16755567 2006
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.100 Biomarker group HPO