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: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE We found an inverse correlation of TFR-1 and TFR-2 expression in AFP and tumour differentiation. 30811632 2019
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
Iron-Refractory Iron Deficiency Anemia
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: 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: 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: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.010 AlteredExpression disease BEFREE Transferrin (P < 0.01) and transferrin receptor 2 (P < 0.01) mRNA were elevated in NASH patients. 25000850 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker group BEFREE Type 2 transferrin receptor (TFR2) participates in cellular iron overload and is related to cardiovascular disease. 23751596 2014
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 GeneticVariation disease BEFREE Association between genetic variations in TFR2 gene and coronary heart disease in Chinese: a case-control study. 23751596 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 GeneticVariation disease BEFREE We did not find significant associations between variants of TFR2 gene (including tagSNPs rs2075674 and rs7385804) and the risk of CHD. 23751596 2014
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: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 GeneticVariation disease BEFREE Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p14) in recent GWAS and liver fibrosis (PNPLA3) in recent meta-analysis were analyzed for association with either liver cirrhosis or advanced fibrosis in 148 German HFE C282Y homozygotes. 24556216 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation disease BEFREE Association between genetic variations in TFR2 gene and coronary heart disease in Chinese: a case-control study. 23751596 2014
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia
0.010 GeneticVariation disease BEFREE Our findings suggest that TF, TFR2 and TMPRSS6 polymorphisms are significantly associated with decreased iron status, but only variants in TMPRSS6 are genetic risk factors for iron deficiency and IDA. 22323359 2012
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 GeneticVariation disease BEFREE Four patients were double heterozygous or compound heterozygous for the mutations mentioned above, and the patient with metabolic syndrome was heterozygous for a mutation in the TFR2 gene. 22890139 2012
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: C4086152
Disease: Childhood Astrocytoma
Childhood 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: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 GeneticVariation disease BEFREE To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes. 18565178 2008
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 AlteredExpression disease BEFREE These results allude to differential regulation of TfR1 and TfR2 expression in normal B cells vs. CLL. 18621559 2008
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda
0.010 GeneticVariation disease BEFREE To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes. 18565178 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 AlteredExpression group BEFREE These observations suggest that TfR2 expression may be altered in human cancers and warrant further studies in primary tumors. 17428703 2007
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: 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
Childhood Acute Lymphoblastic 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: 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