TFRC, transferrin receptor, 7037

N. diseases: 52; N. variants: 33
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 GeneticVariation disease UNIPROT A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 26642240 2016
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 GermlineCausalMutation disease ORPHANET A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 26642240 2016
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 Biomarker disease CTD_human
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.400 Biomarker disease GENOMICS_ENGLAND A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. 26642240 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease CTD_human Increased CD71 expression was associated with poor NPI score, tumour proliferation, basal CKs, p53, EGFR, HER2, steroid receptor negativity and shortened breast cancer specific survival (P < 0.001). 19238537 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 Biomarker disease CTD_human Increased CD71 expression was associated with poor NPI score, tumour proliferation, basal CKs, p53, EGFR, HER2, steroid receptor negativity and shortened breast cancer specific survival (P < 0.001). 19238537 2010
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 Biomarker disease CTD_human [Difference albumin-transferrin interest in the iron deficiency detection in a cohort of 1288 schoolchildren in the district of Tunis]. 17162259 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 Biomarker disease CTD_human Serum-soluble transferrin receptor concentrations in Helicobacter pylori-associated iron-deficiency anemia. 16733738 2006
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		0.400 Biomarker disease CTD_human [Iron status with particular consideration of soluble transferrin receptors in children and youth with gastritis, with or without Helicobacter pylori infection]. 17163184 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 Biomarker disease CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.350 Biomarker disease CTD_human mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. 16755567 2006
CUI: C0017638
Disease: Glioma
Glioma 		0.350 Biomarker disease CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 Biomarker disease CTD_human In this case high expression of TfR1 was found in colorectal carcinoma samples of Dukes A or B grade, and well differentiated colorectal carcinoma cells. 16111806 2006
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.340 Biomarker disease CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.330 Biomarker disease CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		0.330 Biomarker disease CTD_human mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. 16755567 2006
CUI: C0028754
Disease: Obesity
Obesity 		0.310 Biomarker disease CTD_human Orchestrated downregulation of genes involved in oxidative metabolic pathways in obese vs. lean high-fat young male consumers. 20882379 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.310 Biomarker disease CTD_human Progesterone resistance in PCOS endometrium: a microarray analysis in clomiphene citrate-treated and artificial menstrual cycles. 21411543 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.310 Biomarker group CTD_human Transferrin receptor (CD71) is a marker of poor prognosis in breast cancer and can predict response to tamoxifen. 19238537 2010
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.310 Biomarker disease CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.310 Biomarker disease CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.310 Biomarker group CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.310 Biomarker disease CTD_human The transferrin receptor part I: Biology and targeting with cytotoxic antibodies for the treatment of cancer. 16904380 2006
CUI: C0028754
Disease: Obesity
Obesity 		0.310 Biomarker disease CTD_human Iron deficiency in obese postmenopausal women. 17062801 2006