DOCK11, dedicator of cytokinesis 11, 139818

N. diseases: 57; N. variants: 2
Disease: alpha-Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.020 GeneticVariation disease BEFREE One of the two brothers with a more severe phenotype coinherited also had G6PD deficiency, while both had microcytosis due to the homozygosity for the non-deletional form of α-thalassemia ATG→ACG substitution at the initiation codon of the alpha2 globin gene. 20870434 2010
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.020 GeneticVariation disease BEFREE In a previous study we described a nondeletion alpha-thalassemia defect in the alpha 2-globin gene resulting from an AUG----ACG initiation codon mutation. 3680504 1987