Annotation Detail

Information
Associated Genes
HBB
Associated Variants
HBB MUTATION
HBB MUTATION
Associated Disease
thalassemia
Source Database
DisGeNET
Description
As a basis for developing transgenic induced pluripotent stem cell therapies for thalassemia, β(654) induced pluripotent stem cells from a β(654) -thalassemia mouse transduced with the normal human β-globin gene, and the induced pluripotent stem cells with an erythroid-expressing reporter GFP were used to produce chimeric mice.
Pubmed
24816238
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree,GAD,LHGDN
DisGENET score for the Gene Disease association
0.0649170097771522
Drugs