PSMA5, proteasome 20S subunit alpha 5, 5686

N. diseases: 34; N. variants: 2
Disease: Hemoglobin H Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		0.010 GeneticVariation disease BEFREE A novel deletion of at least 26 kilobase of DNA, including both alpha-globin genes, the psi alpha- and psi zeta-globin genes, but sparing the functional zeta-gene was found in a 10-year-old black boy with HbH disease and sickle cell trait. 3942832 1986