Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders. 15781101

2005

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. 15860661

2005

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The recently described V617F mutation in the Janus kinase 2 (JAK2) gene allows defining subclasses of patients with myeloproliferative disorders based on the JAK2 genotype. 16081684

2005

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloproliferative disorders was recently reported in multiple simultaneous publications. 16225651

2005

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The nature of the specific oncogenic mutation(s) is currently being unraveled with the recent discovery of an association between a somatic point mutation of JAK2 tyrosine kinase (V617F) and bcr/abl-negative myeloproliferative disorders, including MMM. 16293880

2005

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Although the V617F JAK2 mutation has been described by several groups to be associated with classical myeloproliferative disorders (MPD), this same mutation has been detected with a low incidence in atypical MPD, such as CNL. 16330446

2005

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The V617F JAK2 mutation and the myeloproliferative disorders. 16285006

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Relation between JAK2 (V617F) mutation status, granulocyte activation, and constitutive mobilization of CD34+ cells into peripheral blood in myeloproliferative disorders. 16373657

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders. 16408098

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders. 16537803

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE A quantitative assay for JAK2(V617F) mutation in myeloproliferative disorders by ARMS-PCR and capillary electrophoresis. 16572198

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE DNA from 161 samples was isolated from peripheral blood granulocytes and formalin-fixed bone marrow clot sections in patients with CMPDs and without myeloproliferative disorders previously genotyped for the JAK2 V617F (G-->T) mutation, which included 114 wild types (GG) and 47 mutants (GT and TT). 16627272

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The V617F activating point mutation in Jak2 has recently been associated with myeloproliferative disorders. 16632470

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Questions remain regarding the exact contribution of JAK2(V617F) in other myeloproliferative disorders. 16670266

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Recent information regarding disease pathogenesis, including a contribution to the myeloproliferative disorder phenotype by a gain-of-function JAK2 mutation (JAK2(V617F)), has revived the prospect of targeted therapeutics as well as molecular monitoring of treatment response. 16675707

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. 16675710

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE In addition, Bcr/Abl-negative classic myeloproliferative disorders are characterized by recurrent JAK2(V617F) mutations, whereas other mutations affecting the RAS signaling pathway molecules have been associated with juvenile myelomonocytic leukemia. 16781478

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE New insights into the pathogenesis of JAK2 V617F-positive myeloproliferative disorders and consequences for the management of patients. 16810610

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The main conclusion is that JAK2 V617F is a 100% specific clue to a new distinct clonal myeloproliferative disorder. 16810614

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE JAK2(V617F) was identified in patients previously diagnosed with a myeloproliferative disorder or acute myeloid leukemia transformed from myeloproliferative disorder, whereas a wild-type genotype was identified in patients with reactive conditions or de novo acute myeloid leukemia. 16831057

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The acquired mutation Val617Phe in the tyrosine kinase JAK2 was recently identified in most but not all patients with classical myeloproliferative disorders. 16885051

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We aimed to determine the relative sensitivity of four separate molecular assays used to detect the presence of the JAK2 V617F mutation in peripheral blood from patients with essential thrombocythaemia and related myeloproliferative disorders. 16916724

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia. 16931578

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Thus, a genetic predisposition to acquisition of JAK2 (V617F) is inherited in families with myeloproliferative disorders. 16998940

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE Because of the clinical importance of this mutation (JAK2 V617F) in diagnosing myeloproliferative disorders and its relevance for disease progression, we developed a semi-quantitative real-time PCR test to detect JAK2 V617F. 17006961

2006