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
0.710 GeneticVariation BEFREE JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model. 16843266 2006
Acute Megakaryocytic Leukemias
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
0.710 GeneticVariation CLINVAR JAK3(A572V), JAK3(V722I), and JAK3(P132T) each transform Ba/F3 cells to factor-independent growth, and JAK3(A572V) confers features of megakaryoblastic leukemia in a murine model. 16843266 2006