HBE1, hemoglobin subunit epsilon 1, 3046

N. diseases: 41; N. variants: 29
Disease: Anemia, Sickle Cell ×
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