rs77375493, INSL6;JAK2

N. diseases: 187
Disease: Acute Megakaryocytic Leukemias ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acute Megakaryocytic Leukemias
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
0.020 GeneticVariation BEFREE We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling. 16598306 2006
Acute Megakaryocytic Leukemias
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
0.020 GeneticVariation BEFREE JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. 16037387 2005