THPO, thrombopoietin, 7066

N. diseases: 185; N. variants: 9
Disease: THROMBOCYTHEMIA 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		0.300 Biomarker disease GENOMICS_ENGLAND Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim. 29191945 2018
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		0.300 Biomarker disease GENOMICS_ENGLAND Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects. 22453305 2012
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		0.300 Biomarker disease GENOMICS_ENGLAND Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects. 22453305 2012