JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Acute lymphoblastic leukemia with lymphomatous features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519721
rs1057519721
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features 		G 0.700 CausalMutation CLINVAR Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation. 22368270 2012
dbSNP: rs1057519721
rs1057519721
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features 		G 0.700 CausalMutation CLINVAR Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia. 22955920 2012
dbSNP: rs1057519721
rs1057519721
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features 		G 0.700 CausalMutation CLINVAR JAK mutations in high-risk childhood acute lymphoblastic leukemia. 19470474 2009
dbSNP: rs1057519721
rs1057519721
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C1855472
Disease:
Acute lymphoblastic leukemia with lymphomatous features 		G 0.700 CausalMutation CLINVAR Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. 18805579 2008