THPO, thrombopoietin, 7066

N. diseases: 185; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235604
Disease: Qualitative platelet deficiency
Qualitative platelet deficiency
0.010 Biomarker disease BEFREE The efficacy of TPO receptor agonists appears to counterbalance, at least to some extent, the thrombocytopathy associated with this mutation. 27885890 2017