Disease: Inherited predisposition to essential thrombocythemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4273671
Disease: Inherited predisposition to essential thrombocythemia
Inherited predisposition to essential thrombocythemia 		0.020 Biomarker disease BEFREE We previously reported that a dominant-positive activating mutation (Asn505) in the transmembrane domain (TMD) of c-MPL, which encodes the thrombopoietin receptor, caused familial essential thrombocythemia. 19483125 2009
CUI: C4273671
Disease: Inherited predisposition to essential thrombocythemia
Inherited predisposition to essential thrombocythemia 		0.020 GeneticVariation disease BEFREE This is the first report of FET deriving from a dominant-positive activating mutation of the c-MPL gene. 14764528 2004