Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence. 31697803 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE Somatic mutations of calreticulin (CALR) have been described in approximately 60-80% of JAK2 and MPL unmutated Essential Thrombocythemia and Primary Myelofibrosis patients. 31332222 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE To make a definite diagnosis of essential thrombocytosis (ET) from reactive thrombocytosis (RT), the most reliable criteria are the presence of driver mutations, namely JAK2, CALR, or MPL gene mutations. 31479555 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE The current study describes rare cases of SAH accompanied by ischemic stroke secondary to ET along with a review of the current literature, implying specific mechanisms for cerebral artery disorders associated with JAK2 V617F mutation. 31049728 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE Calreticulin (CALR) mutation was identified as a recurrent mutation in about 60% to 88% of JAK2/MPL-negative PMF and ET. 31478923 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE The Janus kinase 2 (<i>JAK2</i>) V617F mutation is common in patients with breakpoint cluster region-Abelson1 (<i>BCR-ABL1</i>)-negative myeloproliferative neoplasms, including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in <i>BCR-ABL1-</i>positive chronic myeloid leukemia (CML) patients. 31123683 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE In this study, we analyzed data of 136 patients diagnosed with JAK2-positive ET observed for a median time of 9 years. 31449697 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE We describe a medically-refractory case of CVST in a 35-year-old woman later found to have JAK2 mutation and essential thrombocytosis. 30635218 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE One hundred five Philadelphia-negative MPN patients, including polycythemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF) were initially screened for JAK2 mutations by amplification-refractory mutation system (ARMS-PCR) methodology and were further subjected to detection of CALR gene mutations by our in-house assay, a PCR based amplicon length differentiation assay (PCR-ALDA). 31248375 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE New JAK2-inhibitors are not clearly useful in ET and hence not approved for ET. 30925843 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE Subsequently, the patient was diagnosed with ET because the platelet count gradually increased to 50.0×10<sup>4</sup>/μL, and <i>JAK2 V617F</i> mutation was identified. 31272993 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE With regard to the JAK2 mutational status (analyzed in ET and MF only), no upregulation of the HRR was detected. 31748924 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Calreticulin (CALR) exon 9 frameshift mutations have recently been identified in 30-40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) without JAK2 or MPL mutations. 30080988 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Calreticulin (CALR) mutations are detected in the majority of JAK2 wild type patients with essential thrombocythemia (ET). 31250082 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE A 70-year-old woman with a five-year history of ET with JAK2 V617F mutation treated with hydroxycarbamide for five months presented with petechiae on her limbs. 31689837 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE To our knowledge, this is the first case of ET caused by JAK2-T875N mutation with a family history of thrombocytosis and cerebral infarction. 31428969 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE We performed Sanger sequencing of exon 9 of CALR gene in blood samples obtained from 33 Moroccan patients with ET or PMF non-mutated for JAK2. 28340692 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Risk of thrombosis is higher in JAK2-mutated ET. 30281843 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE In essential thrombocythaemia (ET), the patients with the JAK2 V617F mutation presented more leucocytes and neutrophils than patients who presented the CALR mutation, who had more platelets and a greater need for cytoreductive therapy. 30971335 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE The V617F mutation in the JH2 domain of JAK2 is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV). 31697804 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE However, for essential thrombocythemia (ET), female gender or JAK2 positive, there is a significant increased risk to those carrying at least one variant allele for CASP9. 29542026 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE We found that ASXL1 or EZH2 mutation acquisition after JAK2 leads to PV, while ASXL1 mutation acquisition before JAK2 leads to ET or PMF. 31704857 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Compared to JAK2-mutated ET patients, CALR-mutated ET patients were younger, showed lower WBC counts, lower hemoglobin levels, higher platelet counts, and fewer thrombotic events. 29464483 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 Biomarker disease BEFREE A 41-year-old man was admitted because of headache, and diagnosed as JAK2-negative ET. 29617043 2018
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.800 GeneticVariation disease BEFREE Quantitative assessment of JAK2 and CALR mutations was performed on diagnostic DNA samples from 425 essential thrombocythemia (ET) and 227 primary myelofibrosis patients using real-time quantitative PCR and fragment length analysis. 29306106 2018