Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
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

2018

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients. 28406068

2017

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
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

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE JAK2 is mutated (V617F) in more than 90 % of patients with polycythemia vera (PV) and approximately 60 % of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). 27468853

2017

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE In conclusion, this study in a Belgian cohort of patients supports and extends the growing body of evidence that CALR mutant cases of essential thrombocythemia are phenotypically distinct from JAK2 V617F-positive cases, with regards to clinical and hematologic presentation as well as overall survival. 25934766

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE These studies offer novel insights into the mechanism of JAK/STAT activation in patients with JAK2-V617F-negative essential thrombocytosis and primary myelofibrosis. 26573090

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The 2005 JAK2 V617F discovery and the 2008 WHO diagnostic guideline for the JAK2 V617F mutation coincide with a 31 % increase in ET and a 21 % decrease in PV incidence rates. 25968903

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Most children with ET have the JAK2 V617F somatic mutation; however, another mutation, involving a W to L or K substitution at Mpl codon 515, was reported in a small proportion of adult ET patients that is extremely rare in children. 25970554

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE JAK2 V617F mutation allele burden and miR-143 expression level resulted higher in PV and IM respect to ET patients. 25527813

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The authors describe the first report of a patient being safely transplanted with a liver from a donor who suffered from JAK2 V617F mutation-driven essential thrombocythaemia to a patient with a critical burden of hepatocellular carcinoma. 25778631

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Impact of JAK2(V617F) mutation status on treatment response to anagrelide in essential thrombocythemia: an observational, hypothesis-generating study. 26028965

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2(V617F)-positive cases. rs9376092 has a stronger effect in JAK2(V617F)-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10(-7)), whereas in JAK2(V617F)-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ(2) P=7.3 × 10(-7)). 25849990

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The majority of patients with JAK2 V617F-negative essential thrombocythemia or primary myelofibrosis harbor mutations involving the calreticulin (CALR) gene. 26294037

2016

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The JAK2 c.1849G>T (p.V617F) mutation leads to constitutive activation of Janus kinase (JAK)2 and contributes to dysregulated JAK signaling in myelofibrosis (MF), polycythemia vera (PV), and essential thrombocythemia (ET). 26228487

2015

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV and ET, screening exon 12 for mutations only in V617F-negative PV), CALR and MPL mutations (both in V617F-negative ET). 25189723

2015

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. 25746303

2015

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Two JAK2 V617F positive patients showed baseline platelet counts indicative for ET and a third patient developed ET during follow up, finally resulting in a percentage of 0.188% of ET cases. 24265174

2014

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Open-label study of oral CEP-701 (lestaurtinib) in patients with polycythaemia vera or essential thrombocythaemia with JAK2-V617F mutation. 24903629

2014

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Patients with JAK2 V617F-positive MPN have a heterogeneous histology while CALR-positive ET is associated with megakaryocyte abnormalities and prefibrotic PMF. 24957246

2014

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Megakaryocytic morphology also differed between primary myelofibrosis JAK2 V617F and essential thrombocythemia JAK2 V617F. 25171702

2014

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Patients with essential thrombocythemia may carry JAK2 (V617F), an MPL substitution, or a calreticulin gene (CALR) mutation. 24366362

2014

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Patients with CALR-mutated ET showed a higher platelet count (P = .017) and a lower cumulative incidence of thrombosis (P = .036) and of disease progression (P = .047) compared with those with JAK2 (V617F). 24553179

2014

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE MPL mutation testing is recommended in patients with suspected primary myelofibrosis or essential thrombocythemia who lack the JAK2 V617F mutation. 23994117

2014

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE Together, these results support the concept that activating Stat1 in the presence of JAK2-V617F, for example, through IFNγ, constrains erythroid differentiation and promotes megakaryocytic development, resulting in ET phenotype. 24820309

2014

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE The median V617F allele burden in PV patients was 40 %, MF was 95 %, and ET was 25 %. 24362471

2014