|
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 |
|
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 |
|
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 |
|
Childhood Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In this study, TfR2 mRNA expression was analyzed in hematological cell lines, normal erythroid cells at various stages of differentiation, and leukemia and preleukemia cells.
|
11675342 |
2001 |
|
Childhood 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 |
|
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 |
|
Cirrhosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congestive 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 |
|
Cooley's anemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models.
|
16755567 |
2006 |
|
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 |
|
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 |
|
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 |
|
Corpuscular Hemoglobin Concentration Mean
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Seventy-five genetic loci influencing the human red blood cell.
|
23222517 |
2012 |
|
Corpuscular Hemoglobin Concentration Mean
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
Corpuscular Hemoglobin Concentration Mean
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Elevated hepatic transaminase
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Erectile dysfunction
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Erythroid hyperplasia
|
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 |
|
Erythroleukemia (Erythroid/Myeloid)
|
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 |
|
Fatigue
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
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 |
|
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 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.
|
22560525 |
2012 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |