rs1127354, ITPA

N. diseases: 26
Disease: Bone Marrow Suppression ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bone Marrow Suppression
CUI: C0280962
Disease: Bone Marrow Suppression
0.010 GeneticVariation BEFREE The TPMT gene was found to have a wild-type sequence in all patients, but in the ITPA gene a mutation, 94C>A, was detected at a rate of 50% (8/16), with 83.3% (5/6) occurring in patients with acute bone marrow suppression and 75% (3/4) in those with agranulocytosis. 19214663 2009