Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE V617F transgenic mice with thrombocytosis had higher serum levels of IFNγ than normal controls and patients with ET showed higher IFNγ serum levels than patients with PV. 24820309

2014

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. 23594705

2013

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. 23057517

2013

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis. 21242185

2011

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE In V617F-transgenic mice that closely mimic human primary myelofibrosis, R723 treatment improved survival, hepatosplenomegaly, leukocytosis, and thrombocytosis. 21531978

2011

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. 20194893

2010

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. 17183644

2010

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The two patients who developed thrombocythemia during infancy were JAK2 V617F-negative. 18802948

2008

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis. 18160670

2008

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. 18484677

2008

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin by multiple RT-PCR and capillary electrophoresis of BCR-ABL rearrangements and JAK2 (V617F) mutation. 17285276

2007

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE We show that transplantation of JAK2(V617F)-transduced bone marrow into BALB/c mice induces MPD reminiscent of human PV, characterized by erythrocytosis, granulocytosis, extramedullary hematopoiesis, and bone marrow fibrosis, but not thrombocytosis. 17145859

2007

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis. 16670082

2006

dbSNP: rs77375493
rs77375493
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 GeneticVariation BEFREE The observed biological difference in circulating granulocyte involvement by the JAK2 V617F clone necessitates a sensitive molecular assay for the diagnostic investigation of thrombocytosis. 16916724

2006