Annotation Detail

Information
Associated Genes
HBB
Associated Variants
HBB MUTATION
HBB MUTATION
Associated Disease
Anemia, Hemolytic
Source Database
DisGeNET
Description
Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An unstable hemoglobin variant causing severe hemolytic anemia.
Pubmed
25347256
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree,CLINVAR
DisGENET score for the Gene Disease association
0.121628651232482
Drugs