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
- Febrile Neutropenia
- Source Database
- DisGeNET
- Description
- Therefore, we recently studied the effects of a common polymorphism in another gene encoding an enzyme involved in mercaptopurine metabolism (SNP rs1127354 in inosine-triphospate-pyrophosphatase, ITPA), showing that genetic polymorphism of ITPA is a significant determinant of mercaptopurine metabolism and of febrile neutropenia following combination chemotherapy of acute lymphoblastic leukemia (ALL) in which mercaptopurine doses are individualized based on TPMT genotype.
- Pubmed
- 20021291
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2010
Drugs