Annotation Detail

Information
Associated Genes
HLA-DQB1
Associated Variants
HLA-DQB1 p.Phe41Cys (p.F41C) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
HLA-DQB1 p.Phe41Ser (p.F41S) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
HLA-DQB1 p.Phe41Tyr (p.F41Y) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
HLA-DQB1 p.Phe41Cys (p.F41C) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
HLA-DQB1 p.Phe41Ser (p.F41S) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
HLA-DQB1 p.Phe41Tyr (p.F41Y) ( ENST00000374943.8, ENST00000399079.7, ENST00000399082.7, ENST00000399084.5, ENST00000434651.7 )
Associated Disease
Drug-Induced Liver Injury
Source Database
DisGeNET
Description
[Class I and II HLA genotypes affect susceptibility to AC-DILI, indicating the importance of the adaptive immune response in pathogenesis. The HLA genotypes identified will be useful in studies of the pathogenesis of AC-DILI but have limited utility as pre]
Pubmed
21570397
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.242367031978602
Year of publication
2011
Drugs