HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
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 Concise review: methemoglobinemia. 8416301 1993
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease
0.300 GermlineCausalMutation disease ORPHANET Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene. 3026948 1987