HBE1, hemoglobin subunit epsilon 1, 3046

N. diseases: 41; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.120 GeneticVariation disease GWASCAT Genetic determinants of haemolysis in sickle cell anaemia. 23406172 2013
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.120 Biomarker disease BEFREE Functional studies of embryonic epsilon-globin indicate that individuals with beta thalassemia or sickle cell disease are likely to benefit from therapeutic, transcriptional derepression of its encoding gene. 17003365 2007
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.120 Biomarker disease BEFREE The current work analyzes the antisickling properties of an epsilon -globin-containing heterotetramer (Hb Gower-2) both in vitro as well as in vivo in a well-established mouse model of sickle cell anemia. 12124399 2002
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C1285654
Disease: Memory performance
Memory performance 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. 29274321 2018
CUI: C3158111
Disease: response to SSRI
response to SSRI 		0.100 GeneticVariation phenotype GWASCAT New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation. 29160301 2018
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.100 GeneticVariation phenotype GWASCAT Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits. 28548082 2017
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. 26366553 2015
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. 26366553 2015
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.100 GeneticVariation phenotype GWASDB GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASDB GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
CUI: C0005833
Disease: Blood Sedimentation
Blood Sedimentation 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. 22291609 2012
CUI: C0024530
Disease: Malaria
Malaria 		0.100 GeneticVariation disease GWASDB Genome-wide association study indicates two novel resistance loci for severe malaria. 22895189 2012
CUI: C0024530
Disease: Malaria
Malaria 		0.100 GeneticVariation disease GWASCAT Genome-wide association study indicates two novel resistance loci for severe malaria. 22895189 2012
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.100 GeneticVariation phenotype GWASDB Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans. 22936743 2012
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. 22291609 2012
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. 21326311 2011
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.100 GeneticVariation phenotype GWASCAT Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. 20018918 2010
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.100 GeneticVariation phenotype GWASDB Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. 20018918 2010
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 18245381 2008