HMOX1, heme oxygenase 1, 3162

N. diseases: 666; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238644
Disease: Anemia, severe
Anemia, severe
0.010 GeneticVariation disease BEFREE Loss-of-function mutation in the heme oxygenase 1 (Hmox1) gene causes a rare and lethal disease in children, characterized by severe anemia and intravascular hemolysis, with damage to endothelia and kidneys. 24963040 2014