HBE1, hemoglobin subunit epsilon 1, 3046

N. diseases: 41; N. variants: 29
Disease: beta^0^ Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271980
Disease: beta^0^ Thalassemia
beta^0^ Thalassemia 		0.010 GeneticVariation disease BEFREE We present here the analysis of a family with a 3,030-bp deletion of sequences upstream of the epsilon globin gene including the most 3' locus control region element and cosegregating beta(0) thalassemia. 2040696 1991