TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46
0.700 Biomarker disease CTD_human
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46
0.700 CausalMutation disease CLINVAR
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
0.400 CausalMutation disease CLINVAR
CUI: C0002871
Disease: Anemia
Anemia
0.200 Biomarker disease HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.110 Biomarker group HPO
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.100 Biomarker disease HPO
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea
0.100 Biomarker disease HPO
CUI: C1839167
Disease: Intermittent thrombocytopenia
Intermittent thrombocytopenia
0.100 Biomarker phenotype HPO
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections
0.100 Biomarker phenotype HPO
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
0.100 Biomarker phenotype HPO
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.100 Biomarker disease BEFREE <b>Background:</b> Total-body iron stores (TBI), which are calculated from serum ferritin and soluble transferrin receptor concentrations, can be used to assess the iron status of populations in the United States.<b>Objective:</b> This analysis, developed to support workshop discussions, describes the distribution of TBI and the prevalence of iron deficiency (ID) and ID anemia (IDA) among toddlers, nonpregnant females, and pregnant females.<b>Design:</b> We analyzed data from NHANES; toddlers aged 12-23 mo (NHANES 2003-2010), nonpregnant females aged 15-49 y (NHANES 2007-2010), and pregnant females aged 12-49 y (NHANES 1999-2010). 29070559 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.040 AlteredExpression phenotype BEFREE <b>Conclusion:</b> Though TfR1 was overexpressed in colorectal cancer tissues, there was evidence that downregulation of TfR1 could promote cancer progression. 31372038 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 Biomarker group BEFREE <b>Conclusions:</b> Taken together, these data highlight how CD71 delineates AM subsets that play distinct roles in IPF and furthermore show that CD71<sup>-</sup> AMs may be an important pathogenic component of fibrotic lung disease. 31051082 2019
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 Biomarker disease BEFREE <b>Measurements and Main Results:</b> There was a distinct increase in proportions of AMs lacking CD71 in patients with IPF compared with healthy control subjects. 31051082 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.340 AlteredExpression disease BEFREE <b>Results:</b> TfR1 expression was higher in CRC tissues than in normal tissues (57.2% vs 22.9%, <i>P</i><0.001). 31372038 2019
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 Biomarker disease BEFREE <b>Results:</b> Our analysis revealed that several markers could be useful for sepsis diagnosis, such as CD45RA, CD45RO, or CD71 on T cells; HLA-DR on NKT or classic monocytes, and TREM-1 on non-classic monocytes or neutrophils. 31537145 2019
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 Biomarker disease BEFREE <b>Results:</b> Our analysis revealed that several markers could be useful for sepsis diagnosis, such as CD45RA, CD45RO, or CD71 on T cells; HLA-DR on NKT or classic monocytes, and TREM-1 on non-classic monocytes or neutrophils. 31537145 2019
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.100 AlteredExpression disease BEFREE 2 and 6 μm ELT increased Tfr1 and Slc11a2 (iron-responsive genes involved in neuronal iron uptake) mRNA levels, indicating neuronal ID. 28005311 2017
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
0.100 Biomarker disease BEFREE Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). 11929045 2002
CUI: C0018995
Disease: Hemochromatosis
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
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase. 15342917 2004
Precursor B-cell lymphoblastic leukemia
0.010 AlteredExpression disease BEFREE B-cell acute lymphoblastic leukemia (B-ALL) expressed low levels of CD71 on leukemic cells, significantly lower than AML, mixed phenotype acute leukemia (MPAL) and normal bone marrow blasts (p < 0.05). 23962073 2014
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.060 Biomarker group BEFREE Brain tumor-targeted therapy by systemic delivery of siRNA with Transferrin receptor-mediated core-shell nanoparticles. 27374198 2016
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
0.100 Biomarker disease BEFREE Iron deficiency was quantifies as the serum transferrin receptor / ferritin index, with a cut-off level of 1.5. 28421565 2017