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
- Inosine triphosphatase deficiency
- Source Database
- DisGeNET
- Description
- DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.
- Pubmed
- 12436200
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- 2002
Drugs