HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Disease: Hemoglobin M Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		0.300 GermlineCausalMutation disease ORPHANET De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth. 25031065 2014
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		0.300 GermlineCausalMutation disease ORPHANET Concise review: methemoglobinemia. 8416301 1993