HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Disease: Cyanosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0.010 GeneticVariation phenotype BEFREE Among these variants, α-globin chain mutations such as Hb M Boston present cyanosis from birth while other variants usually manifest later in life. 31269924 2019