JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Chronic myeloproliferative disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE A mutation in the JH2 pseudokinase domain of the Janus kinase 2 gene (JAK2 V617F) has been described in chronic myeloproliferative disorders (MPD). 16408098 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Recently, several groups identified a recurrent somatic point mutation constitutively activating the hematopoietic growth factor receptor-associated JAK2 tyrosine kinase in diverse chronic myeloid disorders - most commonly classic myeloproliferative disorders (MPD), especially polycythemia vera. 16598306 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Recently, a mutation in the Janus kinase 2 (JAK2) gene has been found in a significant number of cases of ET and other CMPDs. 16879015 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Despite these advances, many questions remain regarding the role of a single disease allele in three phenotypically distinct MPD, the potential clinical efficacy of JAK2 inhibitors, and the identity of oncogenic alleles in JAK2V617F/MPLW515-negative MPD. 17124066 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE An acquired gain-of-function mutation in the Janus kinase 2 (JAK2-V617F) is frequently found in patients with myeloproliferative disorders (MPDs). 16675710 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE A clonal mutation in JAK2 tyrosine kinase (JAK2V617F) occurs in a high proportion of patients with MPD and is of use in the characterization of latent MPD in BCS. 16762626 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Using the single probe assay, we examined 70 cases with a presumptive diagnosis of MPD, of which 38 (54%) yielded positive results for the presence of the JAK2 V617F mutation, and 92 follicular lymphoma cases, which were negative for the JAK2 V617F mutation. 17022694 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE We developed and validated a real-time polymerase chain reaction assay using fluorescent hybridization probes and melting curve analysis to identify the JAK2 V617F mutation, which is implicated in a substantial proportion of chronic myeloproliferative disorders (CMPDs). 16627272 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE JAK2V617F, a somatic gain-of-function mutation involving the JAK2 tyrosine kinase gene, occurs in nearly all patients with polycythemia vera (PV) but also in a variable proportion of patients with other myeloid disorders; mutational frequency is estimated at approximately 50% in both essential thrombocythemia (ET) and myelofibrosis (MF), up to 20% in certain subcategories of atypical myeloproliferative disorder (atypical MPD), less than 3% in de novo myelodysplastic syndrome (MDS) or acute myeloid leukemia, and 0% in chronic myeloid leukemia (CML). 17124067 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia. 16831057 2006
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Cytogenetic analysis seems to identify a subgroup of patients with a distinct prognostic profile, and should be performed in conjunction with a JAK2 mutation analysis in patients suspected of a chronic myeloproliferative disease. 17213018 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 Biomarker disease BEFREE These observations suggest that JAK2 attracts multiple gene partners and may contribute to disease progression in patients with MDS and B-cell malignancies, while the JAK2 copy number appears to be important in pathogenesis of Ph-negative MPDs. 17976519 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE The recently identified Janus kinase 2 (JAK2) V617F somatic mutation is closely related to chronic myeloproliferative disorders (CMD). 17263783 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE 13 of the 27 JAK2 V617F-positive subjects with SVT were previously known to have a myeloproliferative disease (MPD). 17307838 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Several distinct mutations, either in JAK2 (exon 12) or in c-Mpl (W515L) have been described in subsets of other MPDs, polycythemia vera, and idiopathic myelofibrosis. 17764814 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Despite this progress, many questions remain unsolved, including how a single JAK2 mutation causes three different MPD phenotypes, what other genes might be involved in the pathogenesis, and what are the factors determining the progression to acute leukemia. 18024602 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Finally, we show that IL-27R can functionally replace a homodimeric type I cytokine receptor in the activation of JAK2-V617F, a critical JAK2 mutation in various myeloproliferative disorders (MPDs). 18003935 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Anticoagulation therapy combined with low-dose aspirin and proper treatment of the MPD is recommended in patients with SVT associated with the JAK2(V617F) mutation. 17687555 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE Recently, an activating somatic mutation of Janus kinase 2 (JAK2V617F) was identified in the myeloproliferative disorders (MPDs). 17703302 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE The identification of the JAK2 mutation represents a major advance in the understanding of the molecular pathogenesis of MPDs that will likely permit a new classification and the development of novel therapeutic strategies for these diseases. 17389152 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE sP-selectin was significantly increased in patients with MPD (P <or= 0.001). sP-selectin levels were significantly elevated in JAK2 V617F-positive patients compared to wild-type (P = 0.006), or controls (P < 0.001). 17596137 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE The myeloproliferative disorder-associated JAK2 V617F mutant escapes negative regulation by suppressor of cytokine signaling 3. 17317861 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE These correlations imply that the JAK2-V617F mutation may be useful for the classification and the management of patients with MPDs. 17045648 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE The present study support the concept of the JAK2 V617F positive chronic myeloproliferative disorders as a biological continuum with phenotypic presentation in part influenced by JAK2 V617F mutational load. 17961178 2007
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 GeneticVariation disease BEFREE The chronic myeloproliferative disorders and mutation of JAK2: Dameshek's 54 year old speculation comes of age. 17336249 2007