JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.050 AlteredExpression disease BEFREE JAK3 mutants induce constitutive JAK/STAT signaling and cause leukemia when expressed in the bone marrow cells of mice. 29187379 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.050 GeneticVariation disease BEFREE Janus kinase 3 (JAK3) tyrosine kinase has a central role in the control of lymphopoiesis, and mutations in JAK3 can lead to either severe combined immunodeficiency or leukemia and lymphomas. 30560087 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.050 GeneticVariation disease BEFREE Expression of mutant JAK3 and HOXA9 led to a rapid development of leukemia originating from multipotent or lymphoid-committed progenitors, with a significant decrease in disease latency compared with JAK3 or HOXA9 alone. 29496663 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.050 GeneticVariation disease BEFREE Overall, we demonstrate a novel role for IL2Rγ in potentiating oncogenesis in the setting of JAK3-mutation-positive leukemia. 25109334 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.050 GeneticVariation disease BEFREE Further screening for JAK3 mutations showed novel and known transforming changes in a total of 9 out of 286 cases of leukemia. 20400977 2010