JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.900 CausalMutation CLINVAR
dbSNP: rs121912472
rs121912472
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.810 CausalMutation CLINVAR
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). 15920007 2005
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation UNIPROT None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. 16247455 2006
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. 16247455 2006
dbSNP: rs121912472
rs121912472
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.810 GeneticVariation UNIPROT The JAK2 V617F mutation in de novo acute myelogenous leukemias. 16247455 2006
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE We screened 79 acute myeloid leukemia (AML) cell lines and found five positive for JAK2 V617F (HEL, MB-02, MUTZ-8, SET-2, UKE-1), 4/5 with histories of MPD/MDS. 16408098 2006
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE Janus kinase2 V617F</span> was present in 13/162 AML samples (8%): 10/13 transformed MPD, and three apparent de novo AML (one of 12 AML-M6, one of 24 AML-M7, and one AML-M2 - all mixed clonality). 16598306 2006
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 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
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 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
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE JAK2 V617F mutations clustered in AML samples with an aberrant karyotype (p<0.05). 17229652 2007
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE We conclude that JAK2-V617F-positive MPD frequently yields JAK2-V617F-negative AML</span>, and transformation of a common JAK2-V617F-negative ancestor represents a possible mechanism. 17363731 2007
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 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
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease. 20153505 2010
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.900 GeneticVariation CLINVAR AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2. 20339092 2010
dbSNP: rs1392759936
rs1392759936
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE We conclude that the AA and GG genotypes of JAK2 A830G might be important markers for therapy outcomes of patients with AML in a Chinese population. 20536350 2010
dbSNP: rs777015472
rs777015472
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE We conclude that the AA and GG genotypes of JAK2 A830G might be important markers for therapy outcomes of patients with AML in a Chinese population. 20536350 2010
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.900 GeneticVariation CLINVAR A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. 20631743 2010
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE They include the BCR/ABL in CML, the V617F JAK2 in Philadelphia chromosome-negative MPN, and the Flt3 ITD and TKD mutations in AML. 20809224 2010
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.900 GeneticVariation CLINVAR The incidence of the JAK2 V617F mutation in each patient group was as follows: 8.3% (1/12), MDS; 22.2% (2/9), MDS/MPN-U; 14.3% (1/7), RARS-T; and 13.3%, (2/15) AML. 21120162 2010
dbSNP: rs1479478620
rs1479478620
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Although known activating substitutions were observed in rare cases of acute myeloid leukemia (AML) (V722I [2/134] or P132T [1/119]), all samples were wild-type (WT) for the oncogenic A572V (119/119). 21599579 2011
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE We found the patient to be JAK2-V617F mutation positive throughout the course of disease, while a mutation of the nucleophosmin (NPM1) gene emerged at AML diagnosis and relapse. 21689158 2011
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.900 GeneticVariation CLINVAR We found the patient to be JAK2-V617F mutation positive throughout the course of disease, while a mutation of the nucleophosmin (NPM1) gene emerged at AML diagnosis and relapse. 21689158 2011
dbSNP: rs77375493
rs77375493
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.900 GeneticVariation BEFREE In the test of blind screening of 223 samples (111 Ph- MPNs, 60 Ph+ chronic myeloid leukemia, and 52 acute myeloid leukemia), JAK2 V617F mutations were found in 78 (70%) patients with MPNs, but in none with chronic and acute myeloid leukemia. 21786333 2011
dbSNP: rs12343867
rs12343867
Entrez Id: 3717;11172
Gene Symbol: JAK2;INSL6
JAK2;INSL6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Janus kinase 2 rs12343867 single nucleotide polymorphism tagging the 46/1 haplotype was genotyped by LightCycler technology applying melting curve analysis with the hybridization probe detection format in 176 patients with acute myeloid leukemia under 60 years diagnosed consecutively and treated with curative intent. 21791467 2011