THPO, thrombopoietin, 7066

N. diseases: 185; N. variants: 9
Disease: Thrombocytopenia-Absent Radius Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		0.030 Biomarker disease BEFREE Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome. 21933853 2012
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		0.030 Biomarker disease BEFREE We performed mutational screening of coding and promoter regions of the c-mpl gene, encoding thrombopoietin (TPO) receptor, by sequence analysis in four unrelated patients affected by TAR syndrome. 9827898 1998
CUI: C0175703
Disease: Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia-Absent Radius Syndrome 		0.030 Biomarker disease BEFREE More detailed investigations of the signal cascades of c-Mpl demonstrated the absence of Jak2 phosphorylation after TPO stimulation in a TAR patient's platelets. 11012189 1998