Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
0.010 GeneticVariation BEFREE In this unique comparative study we present the hematological, biosynthetic, and molecular data from six adult compound heterozygotes for the Greek nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH, Agamma-117 G-->A) and four frequent beta-thalassemia mutations (IVS I-110 G-->A, Cd 39 C-->T, IVS I-1 G-->A, and IVS I-6 T-->C) found in the Hellenic population. 11976733 2002