ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.340 GeneticVariation phenotype BEFREE ITPA genetic variants protect against ribavirin-induced hemolytic anemia and C20orf194 also proved to be protective against thrombocytopenia. 27833958 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.340 GeneticVariation phenotype BEFREE Gene variants predicting reduced predicted ITPase activity were also associated with decreased risk of anemia (P < 0.0001), increased risk of thrombocytopenia (P = 0.007), and lower ribavirin concentrations (P = 0.02). 24519039 2014
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.340 GeneticVariation phenotype BEFREE Two ITPA variants were associated with thrombocytopenia; this was largely explained by a thrombocytotic response to RBV-induced HA attenuating IFN-related thrombocytopenia. 21703177 2012
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.340 GeneticVariation phenotype BEFREE There was no difference in progression of anemia or thrombocytopenia between patients carrying each ITPA genotype in the Spx group. 23145809 2012
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.340 Biomarker phenotype CTD_human Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine. 18662289 2008