JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Myeloproliferative disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519721
rs1057519721
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		G 0.700 GeneticVariation CLINVAR JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors. 20585391 2010
dbSNP: rs1057520016
rs1057520016
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		A 0.700 GeneticVariation CLINVAR JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors. 20585391 2010
dbSNP: rs10974944
rs10974944
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.810 GeneticVariation GWASDB A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384 2009
dbSNP: rs10974944
rs10974944
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.810 GeneticVariation BEFREE The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms. 20422415 2010
dbSNP: rs10974944
rs10974944
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.810 GeneticVariation GWASCAT A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. 19287384 2009
dbSNP: rs12339666
rs12339666
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		T 0.700 GeneticVariation GWASCAT Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. 25849990 2015
dbSNP: rs12343867
rs12343867
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.010 GeneticVariation BEFREE The germline JAK2 haplotype 46/1, tagged by the 'C' allele of single-nucleotide polymorphism (SNP) rs12343867 (C/T), has been associated with JAK2V617F (VF)-positive myeloproliferative neoplasms. 19847198 2010
dbSNP: rs1319313254
rs1319313254
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.010 GeneticVariation BEFREE The CAT-262 C>T and GPX1 Pro198Leu polymorphisms were seen significantly less frequently, while the GSTP1 IleVal105 polymorphism was seen significantly more frequently in patients with BCR-ABL negative myeloproliferative neoplasms, regardless of the molecular sub-type (e.g.JAK2 V617F or CALR mutated). 27077777 2016
dbSNP: rs182123615
rs182123615
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.010 GeneticVariation BEFREE The rs182123615 JAK2 variant was described in several contexts including myeloproliferative neoplasms and congenital erythrocytosis and was supposed to be pathogenic. 27106701 2016
dbSNP: rs368927897
rs368927897
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		T 0.700 GeneticVariation CLINVAR JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. 17267906 2007
dbSNP: rs4495487
rs4495487
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.010 GeneticVariation BEFREE The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population. 22251709 2012
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE The recurrent V617F mutation in JAK2 (JAK2V617F) has emerged as the primary contributor to the pathogenesis of myeloproliferative neoplasms (MPN). 26755644 2016
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE Myeloproliferative neoplasms (MPNs) are characterized by overproduction of mature functional blood cells and are often associated with an acquired genetic mutation of Janus Kinase 2(V617F).The etiology of MPNs remains unknown. 22076943 2012
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE We conducted a microdissection study of JAK2-V617F-mutated myeloproliferative neoplasms (MPN); 10 cases each of ET, PV, and PMF, with separate analysis of the JAK2 mutation status in three hematopoietic cell lines (i.e., megakaryo-, granulo-, and erythropoiesis). 22006129 2011
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE The assay characteristics and our initial evaluation indicate this method can be used for the detection and quantification of JAK2 V617F, which should be useful for diagnosis of myeloproliferative neoplasms and potentially for monitoring minimal residual disease in future trials of therapies targeted to myeloproliferative neoplasms. 19959796 2010
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE Non-reactive platelet counts elevation occurs mainly in myeloproliferative disorders (MPDs), which have been reported to be closely associated with JAK2 V617F mutation. 23469088 2013
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE We conclude that JAK2 V617F mutation is uncommon in the 3q21q26 syndrome and that its presence may indicate an unusual coexistence of a myeloproliferative neoplasm. 20153505 2010
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE The V617F activating point mutation in Jak2 is associated with a proportion of myeloproliferative disorders. 18216297 2008
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE An acquired somatic mutation in the JAK2 gene (JAK2-V617F) is present in the majority of patients with myeloproliferative disorders (MPDs). 18160670 2008
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE Four novel JAK2 mutant alleles have recently been described in patients with V617F-negative myeloproliferative disorders presenting with erythrocytosis. 18055983 2007
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE We identified a haplotype that preferentially acquires JAK2(V617F) and confers susceptibility to myeloproliferative neoplasms. 19287385 2009
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE Moreover, cases of myeloproliferative neoplasms (MPN) with low levels of JAK2 V617F mRNA were even missed in QST when lysis buffer RLT Plus was used, but they were readily detected after addition of BME. 23614569 2013
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE Laboratory testing for the presence of the V617F mutation in JAK2 has taken on great importance in the diagnosis of myeloproliferative disorders. 21118387 2011
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE Identification of oncostatin M as a JAK2 V617F-dependent amplifier of cytokine production and bone marrow remodeling in myeloproliferative neoplasms. 22051730 2012
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0027022
Disease:
Myeloproliferative disease 		0.800 GeneticVariation BEFREE Accordingly, genetic and pharmacological IGF1R inhibitory strategies prevent the hematological disease found in AIRAPL-deficient mice as well as that in mice carrying the Jak2(V617F) mutation, thereby demonstrating the causal involvement of this pathway in the pathogenesis of myeloproliferative neoplasms. 26692333 2016