Disease: THROMBOCYTHEMIA 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2 		0.700 GeneticVariation UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2 		0.700 GeneticVariation UNIPROT MPL W515L mutation in pediatric essential thrombocythemia. 23441089 2013
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2 		0.700 GeneticVariation UNIPROT The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. 19483125 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2 		0.700 GeneticVariation UNIPROT Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. 14764528 2004