Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Since the discovery of the activating V617F mutation in Janus kinase 2 (JAK2), a number of pharmacologic inhibitors of JAK2 have entered clinical trials for patients with myelofibrosis. 28441920

2017

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Poor survival was reported in primary myelofibrosis with low JAK2(V617F) allelic burden. 26419289

2017

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The frequency of the V617F JAK2 mutation was highest in patients with PV where 56 out of 70 cases (80%) carried the mutation, followed by ET with 6 of 24 (25) and IMF with 2 of 16 (12.5%) . 26617890

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include essential thrombocythemia, polycythemia vera, and myelofibrosis (MF), are in a new era of molecular diagnosis, ushered in by the identification of the JAK2(V617F) and cMPL mutations in 2005 and 2006, respectively, and the CALR mutations in 2013. 25870379

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE In conclusion, CALR mutation analysis could be a useful diagnostic tool for ET and PMF in 50% of the cases without JAK2 V617F mutations. 25729726

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Since the discovery of the JAK2 V617F mutation in the majority of the myeloproliferative neoplasms (MPN) of polycythemia vera, essential thrombocythemia and primary myelofibrosis ten years ago, further MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and CALR exon 9 have been identified. 25951317

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Calreticulin (CALR) mutations were recently identified in a substantial proportion of persons with essential thrombocythemia (ET) and with primary myelofibrosis (PMF) without JAK2(V617F). 25860380

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE This study revealed that CALR mutant essential thrombocythemia is associated with younger age, higher platelet counts, lower erythrocyte counts, leukocyte counts, hemoglobin, and hematocrit, and increased risk of progression to myelofibrosis in comparison with JAK2 V617F-positive essential thrombocythemia. 25934766

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE JAK2 V617F, MPL, and CALR Mutations in Korean Patients with Essential Thrombocythemia and Primary Myelofibrosis. 26130950

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Genomically, the Janus Kinase 2 V617F mutation was observed less often in del(13q) PMF patients (P = .07). 26027540

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden. 25617626

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Somatic mutations in an endoplasmic reticulum chaperone, named calreticulin (CALR), is the second most common mutation in patients with ET and PMF after JAK2 V617F mutation. 26697989

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Around 50% of patients with myelofibrosis have the JAK2(V617F) mutation, but almost all patients have aberrant activation of the JAK-STAT signalling pathway. 26648193

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE The etiology of myeloproliferative neoplasms (MPN) (polycythemia vera; essential thrombocythemia; primary myelofibrosis) is unknown, however they are associated with a somatic mutation--JAK2 V617F--suggesting a potential role for environmental mutagens. 25719551

2016

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 wild-type ET carrying the MPL(515); mutations in the calreticulin (CALR) gene in JAK2/MPL wild-type ET and MF, and a small proportion of JAK2/MPL/CALR wild-type ET and MF patients. 25116092

2015

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE JAK2 V617F mutation frequency in our PMF patients was greater than in previous reports. 24811089

2015

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies. 25176567

2015

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 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: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Activation of Janus kinase 2 (JAK2), frequently as a result of the JAK2(V617F) mutation, is a characteristic feature of the classical myeloproliferative neoplasms (MPNs) polycythemia vera, essential thrombocythemia, and myelofibrosis, and it is thought to be responsible for the constitutional symptoms associated with these diseases. 25912019

2015

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). 25023898

2015

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE We investigated this question using conditional JAK2(V617F) knock-in mice with constitutive and inducible expression of JAK2(V617F) in hematopoietic cells, which develop a polycythemia vera (PV)-like disorder evolving into myelofibrosis. 24951423

2015

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF). 24986690

2015