Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation 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
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation 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
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation 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
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation 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
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation 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
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Moreover, leukocytes > 18 × 10<sup>9</sup>/L and V617F burden allele > 25.7% were statistically significantly different in PV patients (P = .019 and borderline significant at P = .055, respectively), while in ET patients leukocytes > 9.2 × 10<sup>9</sup>/L (P < .001) and age at diagnosis of > 55 years were statistically significantly different (P = .002). 30301673 2019
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation 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
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE In 2007, this 82-year-old man with essential thrombocythemia since 1994 developed primary polycythemia with the JAK2 mutation V617F. 30471421 2019
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The prevalence of JAK2 V617F mutations is higher than 95% in PV, 50%-75% in ET and 40%-75% in PMF. 30502850 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE HBS1L-MYB rs9376092 associated only with JAK2 V617F-mutated ET (OR = 1.4; 95% CI = 1.1-1.7; P-value = .003). 29047144 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The results suggested that plasma Dkk-1 levels could differentiate ET from pre-PMF, in JAK2 V617F-positive as well as in CALR-positive patients, and also ET from PV in JAK2 V617F-positive patients. 29975001 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Evaluations confirmed left renal artery stenosis and essential thrombocythemia with JAK2 V617F.Angioplasty cured the hypertension. 29656438 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Essential thrombocythemia during treatment of acute myeloid leukemia with JAK2 V617F mutation: A case report of a CARE-compliant article. 29979407 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Our data show that HIT is more frequent, during heparin treatment, in patients with ET carrying V617F mutation, as compared with patients without mutations (P = 0.029). 29022213 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Fifteen patients with concomitant JAK2 V617F and CALR mutations were identified, of whom 10 were diagnosed with essential thrombocytosis (ET). 30292681 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE A point mutation in exon 14 of the JAK2 gene resulting in the formation of the JAK2 V617F transcript occurs in 95% of PV patients and around 50% of ET and PMF patients driving constitutive activation of the JAK/STAT pathway. 30558676 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE VWF:RCo levels and VWF:RCo/VWF:Ag ratio were lower among JAK2 V617F positive- vs. JAK2 V617F negative- ET patients (P=0.02 and P=0.002, respectively); whereas VWF:Ag levels were comparable (P=0.96). 27919526 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia. 28365441 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients. 28406068 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Risk factors for vascular complications prior to diagnosis were lower hemoglobin in PV, and the presence of JAK2 V617F mutation, higher age, and leukocytosis in ET. 28251679 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia. 27855276 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Of the 110 subjects studied, 62 carried the JAK2 V617F mutation, 21 had CALR mutations, one carried an MPL (W515) mutation, and 28 had non-mutated JAK2, CALR, and MPL (so-called triple-negative ET). 27875935 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Collectively, our studies demonstrate that occasional patients with CALR mutation-positive ET or MF carry other MPN-initiating genetic mutations (including JAK2 V617F), acquire "secondary mutations" before or after the CALR mutation, or evolve over time to being CALR mutation-homozygous. 28168700 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Approximately 95% of PV and 50-70% of ET patients harbor the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations. 29217833 2017
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The identification of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis that are mutually exclusive with the JAK2 V617F mutation has stirred an intensive research interest about the molecular functions of CALR and its mutants in myeloproliferative neoplasms (MPNs) and its diagnostic/prognostic value. 28589084 2017