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: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The JAK2V617F point mutation has been implicated in the pathogenesis of the vast majority of myeloproliferative neoplasms (MPNs), but translocations involving JAK2 have increasingly been identified in patients with JAK2V617F-negativeMPNs. 31063994 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE ASXL1 and TET2 showed similar mutation frequencies across all analyzed entities while RUNX1, CBL, and JAK2 were specifically mutated in patients with acute myeloid leukemia (AML), chronic myelomonocytic leukemia, and myeloproliferative neoplasms, respectively. 30994218 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The discovery of a mutation in the Janus Kinase 2 gene in 2005 spurred significant progress in the field of myeloproliferative neoplasms. 30987952 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE Janus Kinase 2 (JAK2) is a kind of intracellular non-receptor protein tyrosine kinase and has been certified as an important target for the treatment of myeloproliferative neoplasms and rheumatoid arthritis. 30981578 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The identification of JAK2 mutations as disease-initiating in myeloproliferative neoplasms (MPNs) has led to new and effective therapies for these diseases. 30829649 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation. 30828850 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2 variants were detected at a higher frequency in the MPN>AML cohort (15.3%) in comparison with the MPN (4.6%; P < .001) and AML cohorts (5.2%; P < .001). 30811597 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE The JAK2-STAT signaling pathway plays a critical role in myeloproliferative neoplasms (MPN). 30717771 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The mutant JAK2 V617F is the most common molecular event associated with myeloproliferative neoplasms. 30707971 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE JAK2 plays a critical role in JAK/STAT signaling pathway and in patho-mechanism of myeloproliferative disorders and autoimmune diseases. 30617940 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The introduction of next-generation sequencing has broadened the genetic landscape of myeloproliferative neoplasms (MPNs) beyond JAK2, MPL, and CALR. 30594750 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 Biomarker group BEFREE The mechanisms driving atherothrombotic risk in individuals with JAK2 <sup>V617F</sup> ( Jak2 <sup>VF</sup>) positive clonal hematopoiesis or myeloproliferative neoplasms are poorly understood. 30571460 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2 mutations in myeloproliferative neoplasms (MPNs) are associated with the germline GGCC (46/1) haplotype. 30516848 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The JAK2 V617F mutation is highly recurrent in many of the myeloproliferative neoplasms, a molecular variant that can be easily detected using sensitive and minimally invasive techniques. 30514740 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Unique Case of Myeloproliferative Neoplasm with Two Rare Clonal Abnormalities: Rare JAK2 Exon 12 Mutation and Rare e14a3 (b3a3) BCR/ABL Fusion Transcript. 30463063 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE In myeloproliferative neoplasms the JAK2 and CALR mutations has proven to be immunogenic neo-antigens and thus possible targets for peptide vaccination. 30327655 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Influence of Blood Count, Cardiovascular Risks, Inherited Thrombophilia, and JAK2 V617F Burden Allele on Type of Thrombosis in Patients With Philadelphia Chromosome Negative Myeloproliferative Neoplasms. 30301673 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Myeloproliferative neoplasms (MPNs) driver mutations are usually found in JAK2, MPL, and CALR genes; however, 10%-15% of cases are triple negative (TN). 30295334 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The most prominent genes of this locus are programmed death ligands 1 and 2 (PDL1/PDL2), with the amplification of PDL1 being a hallmark of both classical Hodgkin and primary mediastinal B cell lymphoma, and Janus kinase 2 (JAK2), which is point-mutated in myeloproliferative neoplasms and other myeloid malignancies, and rearranged in PCM1-JAK2-positive myeloid/lymphoid neoplasms with eosinophila. 30132131 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE JAK2 clinical mutations cause myeloproliferative neoplasms and leukemia, and the mutations strongly concentrate in the regulatory pseudokinase domain Janus kinase homology (JH) 2. 30092288 2019
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Classical Philadelphia-negative myeloproliferative neoplasms: focus on mutations and JAK2 inhibitors. 30074114 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Among these genetic variations, Philadelphia-negative gain-of-function mutation in the janus kinase 2 (JAK2) protein leads to overexpression of the genes involved in cell growth and proliferation, and has been linked to development of hematological malignancies, specifically, myeloproliferative neoplasms (MPNs; essential thrombocythemia [ET], polycythemia vera [PV], and primary myelofibrosis). 30056970 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE Philadelphia-negative myeloproliferative neoplasms (MPNs) are a diverse group of diseases whose common feature is the presence of V617F mutation of the JAK2 gene. 30056580 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) are associated with increases in janus kinase 2 (JAK2) signaling, often resulting from the JAK2 V617F mutation. 30025280 2018
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.500 GeneticVariation group BEFREE The activated JAK2-V617F mutant is very frequently found in myeloproliferative neoplasms (MPNs), and its inhibitor ruxolitinib has been in clinical use, albeit with limited efficacies. 29928488 2018