TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1050153
rs1050153
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0013595
Disease:
Eczema
0.010 GeneticVariation BEFREE We found significant association of eczema with 11p14 genetic variants in the vicinity of the linkage peak in EGEA (P = 10(-4) for rs1050153 by using the family-based association method, which reached the multiple testing-corrected threshold of 10(-4); P = .003 with logistic regression). 22657408 2012
dbSNP: rs1050153
rs1050153
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE We found significant association of eczema with 11p14 genetic variants in the vicinity of the linkage peak in EGEA (P = 10(-4) for rs1050153 by using the family-based association method, which reached the multiple testing-corrected threshold of 10(-4); P = .003 with logistic regression). 22657408 2012
dbSNP: rs11185506
rs11185506
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs11185506
rs11185506
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs113635136
rs113635136
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
CA 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs113635136
rs113635136
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0427460
Disease:
Red cell distribution width determination
CA 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs113635136
rs113635136
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0206161
Disease:
Reticulocyte count (procedure)
CA 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs11715524
rs11715524
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0741260
Disease:
Adult onset asthma
A 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs11715524
rs11715524
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0035242
Disease:
Respiratory Tract Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11715524
rs11715524
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0004096
Disease:
Asthma
A 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs11915082
rs11915082
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
A 0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs11915082
rs11915082
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
A 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs11915082
rs11915082
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.800 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs11915082
rs11915082
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs1259653415
rs1259653415
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C1292778
Disease:
Chronic myeloproliferative disorder
0.010 GeneticVariation BEFREE TFR S142G allele frequency was reduced among V617F-negative CMPD patients (34.8%+/-7.6%) compared with controls (47.8%+/-5.4%; P=0.02). 19258483 2009
dbSNP: rs1259653415
rs1259653415
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation 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
dbSNP: rs1259653415
rs1259653415
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation 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
dbSNP: rs13072608
rs13072608
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs13072608
rs13072608
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs1341988492
rs1341988492
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4225219
Disease:
IMMUNODEFICIENCY 46
A 0.700 CausalMutation CLINVAR
dbSNP: rs146556082
rs146556082
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C2749929
Disease:
Musician's Dystonia
0.010 GeneticVariation BEFREE The detected variants among index patients comprised p.Ile196Val (<i>n</i> = 6); p.Ala174Thr (<i>n</i> = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. 29057844 2017
dbSNP: rs1468034466
rs1468034466
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE To examine the role of H63D HFE in ALS, we generated a double transgenic mouse line (SOD1/H67D) carrying the H67D HFE (homologue of human H63D) and SOD1(G93A) mutations. 25283820 2014
dbSNP: rs1468034466
rs1468034466
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE Dysregulation of iron protein expression in the G93A model of amyotrophic lateral sclerosis. 23178912 2013
dbSNP: rs1468034466
rs1468034466
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE Increased anxiety-like behavior and selective learning impairments are concomitant to loss of hippocampal interneurons in the presymptomatic SOD1(G93A) ALS mouse model. 25684566 2015
dbSNP: rs1468034466
rs1468034466
Entrez Id: 7037
Gene Symbol: TFRC
TFRC
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE We observed an increased total iron content in G93A-SOD1 SH-SY5Y neuroblastoma cells compared to wild-type (WT)-SOD1 cells. mRNA expression for transferrin receptor 1 (TfR1) and divalent metal transporter 1 was increased in G93A-SOD1 cells, which was in accordance with higher iron uptake. 23178912 2013