JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: THROMBOCYTHEMIA 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3 		0.400 GeneticVariation disease UNIPROT Germline JAK2 mutation in a family with hereditary thrombocytosis. 22397670 2012
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3 		0.400 GeneticVariation disease UNIPROT Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study. 16325696 2005
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3 		0.400 CausalMutation disease CLINVAR