PSMA5, proteasome 20S subunit alpha 5, 5686

N. diseases: 34; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.020 GeneticVariation disease BEFREE A non-deletion form of alpha(+)-thalassaemia (alpha alpha Th), triplicated alpha genes (alpha alpha alpha) and single zeta gene (-zeta) chromosomes were present at low frequencies (< 1%), whereas triplicated gamma gene (gamma gamma gamma) and triplicated zeta (zeta zeta zeta) arrangements were more common (1.1-16.3%). alpha 0-thalassaemia, probably introduced from Southeast Asia in the early part of this century, was observed in a number of individuals of Chinese and Chinese/Polynesian ancestry. 7672089 1995
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
0.020 GeneticVariation disease BEFREE Analysis of alpha and zeta genes in 101 healthy normals and hospitalized patients with non-haematological diseases revealed a 3% incidence of alpha thalassaemia in the local Chinese population of Hong Kong. 3756105 1986