|
rs77375493
|
|
Polycythemia Vera
|
T |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Leukemia, Myelocytic, Acute
|
T |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
THROMBOCYTHEMIA 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Primary Myelofibrosis
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
THROMBOCYTHEMIA 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Myeloproliferative disease
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Polycythemia
|
T |
0.750 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Erythrocytosis familial, 1
|
T |
0.710 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Erythrocytosis familial, 1
|
T |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Splenomegaly
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC
|
T |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
13 of the 27 JAK2 V617F-positive subjects with SVT were previously known to have a myeloproliferative disease (MPD).
|
17307838 |
2007 |
|
rs77375493
|
|
Toxic Epidermal Necrolysis
|
|
0.010 |
GeneticVariation
|
BEFREE |
26 (39%) of 66 haematological responders and 25 (71%) of 35 molecular responders (with the JAK2 Val617Phe mutation) have maintained some response during follow-up: 49% maintained their best molecular response (nine of ten patients who had a complete response, five of 20 who had a partial response, and three of five who had a minor response).
|
28291640 |
2017 |
|
rs77375493
|
|
Primary Myelofibrosis
|
|
0.800 |
GeneticVariation
|
BEFREE |
88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for JAK2 V617F, while more than 35% of the individuals were JAK2 V617F-negative, confirming a high prevalence of this abnormality in MPNs, more frequently with a low mutated allele burden, similar to what has been reported in other Western countries, despite differences among methods used to detect this mutation.
|
22304488 |
2012 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Bone marrow histopathology in addition to clinical, laboratory, biological, and molecular markers, including the JAK2 V617 PCR test, serum EPO, PRV-1, EEC, LAP score, peripheral blood parameters, and spleen size on echogram will detect the early stages of MPD and allows diagnostic differentiation of the three primary MPDs (ET, PV, and CIMF) in both JAK2 V617F-positive and JAK2 wild-type MPD patients.
|
16810609 |
2006 |
|
rs77375493
|
|
Refractory anemia with ringed sideroblasts
|
|
0.030 |
GeneticVariation
|
BEFREE |
Refractory anemia with ringed sideroblasts and marked thrombocytosis (RARS-T) was recently shown to be a JAK2-V617F mutation-related disorder.
|
18166783 |
2008 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Polycythemia vera is a clonal hematopoietic stem cell disorder in which the JAK2 V617F mutation is observed in >95% of patients, but an as yet unidentified process appears to initiate the clonal expansion of hematopoiesis.
|
18508790 |
2008 |
|
rs77375493
|
|
Thrombophilia, hereditary
|
|
0.010 |
GeneticVariation
|
BEFREE |
Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis.
|
18796251 |
2008 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Polycythemia vera (PV) is characterized by erythrocytosis associated with the presence of the activating JAK2(V617F) mutation in a variable proportion of hematopoietic cells.
|
19815050 |
2009 |
|
rs77375493
|
|
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 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms (MPNs) are diseases that carry the JAK2 (V617F) mutation in about 70% of the patients.
|
22227528 |
2012 |
|
rs77375493
|
|
Polycythemia Vera
|
|
0.900 |
GeneticVariation
|
BEFREE |
Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms (MPNs) characterized in most cases by a unique somatic mutation, JAK2 V617F.
|
22251709 |
2012 |
|
rs77375493
|
|
Myeloproliferative disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
Myeloproliferative neoplasms are frequently associated with aberrant constitutive tyrosine kinase (TK) activity resulting from chimaeric fusion genes or point mutations such as BCR-ABL1 or JAK2 V617F.
|
22513837 |
2012 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia).
|
22847163 |
2012 |
|
rs77375493
|
|
Chronic myeloproliferative disorder
|
|
0.100 |
GeneticVariation
|
BEFREE |
MPN with or without circulating positive clones for JAK2 V617F mutation can occur long after a SVT, identifying at risk patients for new thrombotic events.
|
23916380 |
2013 |