HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Disease: Contiguous gene syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.010 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