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
Lupus Erythematosus, Systemic
Source Database
DisGeNET
Description
Pro32Thr polymorphism of inosine triphosphate pyrophosphatase gene predicts efficacy of low-dose azathioprine for patients with systemic lupus erythematosus.
Pubmed
19129747
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00318135759484294
Year of publication
2009
Drugs