|
IMMUNODEFICIENCY 46
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
|
26642240 |
2016 |
|
Malignant neoplasm of breast
|
0.400 |
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 |
|
Breast Carcinoma
|
0.400 |
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 |
|
beta Thalassemia
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
The goal of this study was to establish a simple, quick and cost-effective screening assay by using modified dual priming oligonucleotide PCR for three most common mutations of β-thalassemia [CD71-72 (+A), CD 41-42 (-CTTT), Pnt.-28 (A → G)] in Southeast Asia and southern China.
|
30118703 |
2018 |
|
Colorectal Carcinoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
In previous studies we found an interaction between HFE and TFR genotypes in multiple myeloma and breast and colorectal carcinomas.
|
11096344 |
2000 |
|
Colorectal Carcinoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Whereas a recent study reported an increased risk of colorectal cancer associated with any HFE germ line mutation (C282Y or H63D), other investigators have concluded there is no increased risk, or that any increase is dependent on polymorphisms in HFE-interacting genes such as the transferrin receptor (TFR).
|
15941956 |
2005 |
|
Liver carcinoma
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Individuals carrying the HFE282Tyr allele (homo- and heterozygotes) in combination with homozygosity for the TFR Ser allele showed an increased risk for HCC (OR = 3.5; 95% confidence interval, CI = 1.3-9.3), which was further increased in HFE Tyr homozygotes and compound (Tyr/Asp) heterozygotes in combination with TFR 142Ser homozygosity (OR = 17.2; 95% CI = 1.8-168.9).
|
11096344 |
2000 |
|
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Iron metabolism has been implicated in carcinogenesis and several studies assessed the potential role of genetic variants of proteins involved in iron metabolism (HFE C282Y, TFR S142G) in different malignancies.
|
19258483 |
2009 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
By interrogating The Cancer Genome Atlas (TCGA) database, expression of IRP2 and transferrin receptor-1 (TfR1) was assessed relative to common mutations that are known to occur in cancer.
|
28281325 |
2017 |
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
|
19862010 |
2009 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Hemochromatosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population.
|
15698609 |
2005 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Basic anatomy and tumor biology of the RPS6KA6 gene that encodes the p90 ribosomal S6 kinase-4.
|
22614021 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Retrospective chart review and functional investigation (Musculoskeletal Tumor Society (MSTS) score, Harris Hip Score (HHS), Oxford Knee Score (OKS), SF-12 Health Survey, and failure classification according to Henderson) of TFR cases from 1995 to 2011.
|
29338761 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The risk for neoplastic disease was further increased (OR 7.7, 95% CI = 1.0-59.9) when the analysis was restricted to HFE Tyr homozygotes and compound heterozygotes in combination with TFR Ser homozygosity.
|
10383894 |
1999 |
|
Respiratory Tract Diseases
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Reticulocyte count (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Iron deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Erythrocytic Iron Deficiency Enhances Susceptibility to Plasmodium chabaudi Infection in Mice Carrying a Missense Mutation in Transferrin Receptor 1.
|
26303393 |
2015 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Soluble form of transferrin receptor-1 level is associated with the age at first diagnosis and the risk of therapeutic intervention and iron overloading in patients with non-transfusion-dependent thalassemia.
|
28707012 |
2017 |
|
Iron Overload
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study confirms the high frequency of HFE mutations in patients with PCT and supports the hypothesis that HFE gene abnormalities might play a significant part in the PCT pathomechanism, probably through iron overload; by contrast, transferrin receptor polymorphisms do not appear to play a significant part in iron overload in PCT.
|
11260010 |
2001 |