Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.010 GeneticVariation BEFREE We performed a retrospective analysis of JAK2 V617F mutation in Chinese patients with myeloid neoplasms and isolated del(5q), and were able to demonstrate the frequent occurrence of JAK2 V617F mutation in 5q- syndrome. 19562618

2009

dbSNP: rs77375493
rs77375493
CUI: C0272362
Disease: Acquired von Willebrand's disease
Acquired von Willebrand's disease
0.010 GeneticVariation BEFREE Among ET patients, JAK2 V617F was a main driver for the development of AVWS. 27919526

2017

dbSNP: rs77375493
rs77375493
CUI: C0001206
Disease: Acromegaly
Acromegaly
0.010 GeneticVariation BEFREE More data, on a larger cohort of patients, could clarify whether JAK2 V617F mutation has a serious impact on the clinical features and course of acromegaly. 22364960

2012

dbSNP: rs77375493
rs77375493
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.010 GeneticVariation BEFREE These results support a role for platelet turnover, factor V, and aAPCR in the thrombosis of ET as well as the association between JAK2 V617F allele burden and either decreased free PS or increased TF and soluble markers of platelet and endothelial activation. 19105233

2009

dbSNP: rs77375493
rs77375493
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
0.010 GeneticVariation BEFREE We would like to report and review the relationship between ACS and polycythemia vera with JAK2 V617F mutation. 26825737

2016

dbSNP: rs77375493
rs77375493
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.070 GeneticVariation BEFREE The multi-site docking protein Gab1 is constitutively phosphorylated independent from its recruitment to the plasma membrane in Jak2-V617F-positive cells and mediates proliferation of human erythroleukaemia cells. 28365441

2017

dbSNP: rs77375493
rs77375493
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.070 GeneticVariation BEFREE Similar inhibitory effects were found with the JAK2(V617F)-positive human erythroleukemia HEL cell line. 17178722

2007

dbSNP: rs77375493
rs77375493
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.070 GeneticVariation BEFREE We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling. 16598306

2006

dbSNP: rs77375493
rs77375493
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.070 GeneticVariation BEFREE The leukemic CD71<sup>+</sup> cells were more sensitive to INCB18424, a potent JAK inhibitor, than KSL cells. p53 restoration could ameliorate Jak2 V617F-transduced p53-null erythroleukemia. 28068330

2017

dbSNP: rs77375493
rs77375493
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.070 GeneticVariation BEFREE We investigated the activity of (E)-3(6-bromopyridin-2-yl)-2-cyano-N-(S0-1phenylethyl)acrylamide (WP1066), a novel analogue of the JAK2 inhibitor AG490, in JAK2 V617F-positive erythroleukemia HEL cells and in blood cells from patients with polycythemia vera. 18245540

2008

dbSNP: rs77375493
rs77375493
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.070 GeneticVariation BEFREE Using this assay and serial dilutions of an erythroleukemia cell line harboring the homozygous JAK2 V617F mutation, we successfully detected the mutation within a background of wild type sequences at a sensitivity of 2.5%. 17022694

2006

dbSNP: rs77375493
rs77375493
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.070 GeneticVariation BEFREE Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. 20667821

2010

dbSNP: rs77375493
rs77375493
CUI: C2930974
Disease: Acute erythroleukemia
Acute erythroleukemia
0.010 GeneticVariation BEFREE Wild-type JAK2 secondary acute erythroleukemia developing after JAK2-V617F-mutated primary myelofibrosis. 19713696

2009

dbSNP: rs77375493
rs77375493
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 GeneticVariation BEFREE JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel translocation t(5;12)(p13;q24) was observed at the time of progression to acute leukemia. 21658659

2011

dbSNP: rs77375493
rs77375493
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 GeneticVariation BEFREE JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. 16037387

2005

dbSNP: rs77375493
rs77375493
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 GeneticVariation BEFREE A high JAK2(V617F) allele burden was correlated with the transformation to myelofibrosis (p<0.0001), but not with the transformation to acute leukemia. 22818858

2013

dbSNP: rs77375493
rs77375493
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). 20538800

2010

dbSNP: rs77375493
rs77375493
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
0.020 GeneticVariation BEFREE JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. 16037387

2005

dbSNP: rs77375493
rs77375493
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
0.020 GeneticVariation BEFREE We hypothesized that the JAK2 V617F mutation might also be present in samples from patients with acute myeloid leukemia (AML), especially erythroleukemia (AML-M6) or megakaryoblastic leukemia (AML-M7), where it might mimic erythropoietin or thrombopoietin signaling. 16598306

2006

dbSNP: rs77375493
rs77375493
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.020 GeneticVariation BEFREE The JAK2 V617F mutation is frequently found in ET, while it is rare in de novo AML. 29979407

2018

dbSNP: rs77375493
rs77375493
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
0.020 GeneticVariation BEFREE We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML). 18030353

2007

dbSNP: rs77375493
rs77375493
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE JAK2 V617F and N30S mutations and JAK2 amplification were detected by NGS in plasmid samples in patients with lung adenocarcinoma. 28639892

2017

dbSNP: rs77375493
rs77375493
CUI: C0001546
Disease: Adjustment Disorders
Adjustment Disorders
0.010 GeneticVariation BEFREE In this context, the distinctive role of a positive JAK2(V617F) mutation for the diagnosis of Ph- MPD was underscored, including entities with a low allele burden and the discrimination from reactive disorders (autoimmune myelofibrosis, reactive thrombocytosis). 19605821

2009

dbSNP: rs77375493
rs77375493
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.050 GeneticVariation BEFREE Using this assay and serial dilutions of an erythroleukemia cell line harboring the homozygous JAK2 V617F mutation, we successfully detected the mutation within a background of wild type sequences at a sensitivity of 2.5%. 17022694

2006

dbSNP: rs77375493
rs77375493
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.050 GeneticVariation BEFREE Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. 20667821

2010