JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 Biomarker disease BEFREE We further found that activated JAK2 may be naturally suppressed in 25% of CRLF2<sup>pos</sup> DS-ALLs by loss-of-function aberrations in USP9X, a deubiquitinase previously shown to stabilize the activated phosphorylated JAK2. 28461505 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 Biomarker disease BEFREE We studied the frequency and prognostic value of deletions in B-cell development genes and aberrations of janus kinase 2 (JAK2) and cytokine receptor-like factor 2 (CRLF2) using array-comparative genomic hybridization, and multiplex ligation-dependent probe amplification in a population-based cohort of 34 Dutch Childhood Oncology Group DS ALL samples. 22441210 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE Chromosome 9, chromosome 7, and 20q- were recurrent abnormalities in the JAK2+ group, whereas 13q- and trisomy 21 were common in the JAK2- group. 21502425 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 AlteredExpression disease BEFREE Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group. 19965641 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE These results infer a complex molecular pathogenesis for DS-ALL leukemogenesis, with trisomy 21 as an initiating or first hit and with chromosome aneuploidy, gene deletions, and activating JAK2 mutations as complementary genetic events. 18927438 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE In Down syndrome (DS) ALL and 2 non-DS BCP-ALL cell lines, CRLF2 deregulation was associated with mutations of the JAK2 pseudokinase domain, suggesting oncogenic cooperation as well as highlighting a link between non-DS ALL and JAK2 mutations. 19641190 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE JAK2 activating mutations occurred in 10/53 DS ALL cases (18.9%). 19120350 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease LHGDN These results infer a complex molecular pathogenesis for DS-ALL leukemogenesis, with trisomy 21 as an initiating or first hit and with chromosome aneuploidy, gene deletions, and activating JAK2 mutations as complementary genetic events. 18927438 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease LHGDN In a series of human AMKL samples from both Down syndrome and non-Down syndrome patients, mutations were identified within KIT, FLT3, JAK2, JAK3, and MPL genes, with a higher frequency in DS than in non-DS patients. 18755984 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 GeneticVariation disease BEFREE The only patient with non-Down's syndrome-associated leukaemia but with a JAK2 mutation had an isochromosome 21q. 18805579 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 AlteredExpression disease BEFREE These results highlight the JAK2 pseudokinase domain as an oncogenic hot spot and indicate that activation of the JAK-STAT pathway may contribute to lymphoid malignancies and hematologic disorders observed in children with DS. 17068151 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 Biomarker disease LHGDN These results highlight the JAK2 pseudokinase domain as an oncogenic hot spot and indicate that activation of the JAK-STAT pathway may contribute to lymphoid malignancies and hematologic disorders observed in children with DS. 17068151 2007