Annotation Detail

Information
Associated Genes
ITPA
Associated Variants
ITPA p.Pro32Thr (p.P32T) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Ala (p.P32A) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Ser (p.P32S) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Thr (p.P32T) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Ala (p.P32A) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
ITPA p.Pro32Ser (p.P32S) ( ENST00000380113.8, ENST00000399838.3, ENST00000455664.6 )
Associated Disease
Anemia, Hemolytic
Source Database
DisGeNET
Description
Significant association of ITPA gene rs1127354 with protection against RB V-induced hemolytic anemia was found in Ukrainian patients with CHC infection.
Pubmed
26030972
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.127177040805927
Year of publication
2015
Drugs