HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Disease: Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795917
Disease: Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 		0.310 GeneticVariation disease BEFREE Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). 17598130 2007
CUI: C0795917
Disease: Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 		0.310 ChromosomalRearrangement disease ORPHANET