JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression disease BEFREE A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. 9360930 1997
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE Supporting the notion that LT signalling plays a role in T-ALL, inactivation of Ltbr results in a significant delay in TEL-JAK2-induced leukaemia onset. 26456771 2015
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE Leukemias bearing CRLF2 and JAK2 gene alterations are characterized by aberrant JAK/STAT signaling and poor prognosis. 28331226 2017
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE Among the patients with myelofibrosis, those with ASXL1 lesions were not distinguished from their wild-type counterparts with regard to JAK2 V617F status, exposure to chemotherapy or evolution to leukemia. 21712540 2011
CUI: C0023418
Disease: leukemia
leukemia
0.400 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: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. 19691103 2009
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE Having both a tyrosine kinase-activating rearrangement and genomic lesions affecting lymphoid transcription factors suggested that the leukemia was of the Philadelphia chromosome (Ph)/BCR-ABL1-like ALL subtype and that JAK2 inhibitors might be able to overcome this aggressive ALL with SPAG9-JAK2. 25951811 2015
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE Pre-TCR signaling synergizes with TEL-JAK2 to transform immature thymocytes and initiate leukemogenesis as shown by (1) the delayed leukemia onset in Rag2-, CD3epsilon- and pTalpha-deficient mice, (2) the occurrence of recurrent chromosomal alterations in pre-TCR-deficient leukemia, and (3) the correction of delayed leukemia onset in Rag2-deficient TEL-JAK2 mice by an H-Y TCRalphabeta transgene that mimics pre-TCR signaling. 17192390 2007
CUI: C0023418
Disease: leukemia
leukemia
0.400 AlteredExpression disease BEFREE SHP1 negatively regulates the Janus kinase 2/signal transducer and activator of transcription (JAK2/STAT) signaling pathway, which is constitutively activated in myeloproliferative neoplasms (MPNs) and leukemia. 25824741 2015
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease BEFREE Discovery of Janus Kinase 2 (JAK2) and Histone Deacetylase (HDAC) Dual Inhibitors as a Novel Strategy for the Combinational Treatment of Leukemia and Invasive Fungal Infections. 29940115 2018
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease CTD_human Essential thrombocythemia: past and present. 19636672 2009
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease LHGDN Analysis of the exon 12 and 14 mutations of the JAK2 gene in Philadelphia chromosome-positive leukemia. 17851549 2008
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease LHGDN Mutations of N-RAS, FLT3 and p53 genes are not involved in the development of acute leukemia transformed from myeloproliferative diseases with JAK2 mutation. 16557239 2006
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease LHGDN Moreover, JAK2 V617F mutations in CBF leukemias were associated with an aggressive clinical course with 80% of the patients relapsing. 17229652 2007