Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE We therefore conclude that PB is a reliable source for testing for the JAK2 p.V617F mutation and quantifying its allele burden in patients with MPN. 24068492

2013

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE We studied the sensitivity and reproducibility of LightScanner™ platform in the detection of JAK2 V617F mutation and the availability for diagnostic use in MPN. 20728437

2010

dbSNP: rs77375493
rs77375493
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 GeneticVariation BEFREE We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES). 25860380

2015

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES). 25860380

2015

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES). 25860380

2015

dbSNP: rs77375493
rs77375493
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 GeneticVariation BEFREE We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES). 25860380

2015

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES). 25860380

2015

dbSNP: rs77375493
rs77375493
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.040 GeneticVariation BEFREE We studied 176 patients, all enrolled on prospective treatment trials, for secondary chromosomal aberrations and mutations in N-/KRAS, KIT, FLT3, and JAK2 (V617F) genes. 23115274

2013

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50) without JAK2(V617F) or MPL exon 10 mutations. 25746303

2015

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE We showed that in vitro the concomitant presence of JAK2(V617F) and TET2 mutations favors clonal polycythemia vera erythroid progenitors in contrast with non-TET2 mutated progenitors. 21273266

2011

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

2006

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We show here that PP2A is inactive in polycythemia vera (PV) and other myeloproliferative neoplasms characterized by the expression of the transforming Jak2(V617F) oncogene. 23926298

2013

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE We show here that PP2A is inactive in polycythemia vera (PV)</span> and other myeloproliferative neoplasms characterized by the expression of the transforming Jak2(V617F) oncogene. 23926298

2013

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. 17285276

2007

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. 17285276

2007

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. 17285276

2007

dbSNP: rs77375493
rs77375493
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.800 GeneticVariation BEFREE We selected the six patients with myelodysplastic syndromes or AML because they carried acquired rearrangements on chromosome 4q24; we selected the five patients with myeloproliferative disorders because they carried a dominant clone in hematopoietic progenitor cells that was positive for the V617F mutation in the Janus kinase 2 (JAK2) gene. 19474426

2009

dbSNP: rs77375493
rs77375493
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.100 GeneticVariation BEFREE We selected the six patients with myelodysplastic syndromes</span> or AML because they carried acquired rearrangements on chromosome 4q24; we selected the five patients with myeloproliferative disorders because they carried a dominant clone in hematopoietic progenitor cells that was positive for the V617F mutation in the Janus kinase 2 (JAK2) gene. 19474426

2009

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
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
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE We retrospectively analysed laboratory and clinical findings of 106 consecutive patients with ET to evaluate possible relationships between thrombosis, abnormal bleeding, peripheral blood count, overexpression of PRV1 and JAK2(V617F) mutational status. 20104275

2010

dbSNP: rs77375493
rs77375493
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.040 GeneticVariation BEFREE We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. 18849073

2009

dbSNP: rs77375493
rs77375493
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation BEFREE We report two cases of ET with Jak 2 V617F in Zap-70+ CLL. 18849073

2009

dbSNP: rs77375493
rs77375493
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.800 GeneticVariation BEFREE We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. 19643476

2010

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.900 GeneticVariation BEFREE We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. 19643476

2010

dbSNP: rs77375493
rs77375493
Growth Hormone-Secreting Pituitary Adenoma
0.010 GeneticVariation BEFREE We report the complex clinical presentation of the unique case, never described, of acromegaly due to GH-secreting pituitary adenoma associated with JAK2 V617F mutation. 22364960

2012