THPO, thrombopoietin, 7066

N. diseases: 185; N. variants: 9
Disease: Limb defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740404
Disease: Limb defects
Limb defects 		0.020 GeneticVariation group BEFREE Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects. 22453305 2012
CUI: C0740404
Disease: Limb defects
Limb defects 		0.020 GeneticVariation group BEFREE Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. 19553636 2009