Annotation Detail

Information
Associated Genes
GLYAT
Associated Variants
GLYAT MUTATION
GLYAT MUTATION
Associated Disease
thalassemia
Source Database
DisGeNET
Description
Analysis of the remaining case identified a novel δ-Hb variant namely the Hb A2-Lampang [δ47(CD6)GAT→AAT; Asp→Asn] found in association with Hb E and α(+)-thalassemia.
Pubmed
25218786
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Drugs