JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE To our knowledge, this is the first case of ET caused by JAK2-T875N mutation with a family history of thrombocytosis and cerebral infarction. 31428969 2019
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE However, when a patient presents with isolated thrombocytosis and a positive JAK2 V617F assay, particularly a young woman, the possibility of PV must always be considered because of plasma volume expansion. 29516275 2018
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Investigation for polycythaemia and thrombocytosis showed JAK2 positive myeloproliferative neoplasm.A diagnosis of AOP infarction is often missed or delayed because it is rare and presents with variable neurological symptoms. 29592977 2018
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE These observations of our case raise two possibilities: either transient posttreatment thrombocythemia is a feature of AML with JAK2 V617F mutation, or this was a case of secondary AML. 29979407 2018
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Thrombocytosis can be due to genetic alterations that affect either the intrinsic MPL signaling through gain-of-function (GOF) activity (<i>MPL, JAK2, CALR</i>) and loss-of-function (LOF) activity of negative regulators (<i>CBL, LNK</i>) or the extrinsic MPL signaling by <i>THPO</i> GOF mutations leading to increased TPO synthesis. 28955303 2017
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE We investigated the JAK2 V617F, CALR and STAT5 activation status in patients with CML and thrombocytosis (CML-T) that mimicked ET, trying to identify a common mechanism for thrombocytosis in MPN. 26754830 2016
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease BEFREE The identification of somatic calreticulin (CALR) mutations can be used to confirm the diagnosis of a myeloproliferative disorder in Philadelphia chromosome-negative, JAK2 and MPL wild type patients with thrombocytosis. 27114372 2016
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Time free from cytoreduction was significantly shorter in CALR-mutated patients with essential thrombocythemia than in JAK2(V617F)-mutated ones (median time 5 years and 9.8 years, respectively; P=0.0002) and cytoreduction was usually necessary to control extreme thrombocytosis. 27175028 2016
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Recently, germ line JAK2 mutations were associated with polyclonal hereditary thrombocytosis and triple-negative MPNs. 27389715 2016
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE We have identified 2 families with hereditary thrombocytosis presenting novel heterozygous germ-line mutations of JAK2. 24398328 2014
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in sporadic MPD, have been shown to cause inherited thrombocytosis. 25195195 2014
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease BEFREE We propose that JAK2 and MPL expression levels regulate megakaryocytic proliferation vs differentiation in both normal and pathological conditions, and that JAK2 chemical inhibitors could promote a paradoxical thrombocytosis when used at suboptimal doses. 25143485 2014
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Refractory anemia with ring sideroblasts (RARS-T) associated with marked thrombocytosis is a myelodysplastic/myeloproliferative neoplasm associated with both SF3B1 and JAK2 or MPL mutations. 24507814 2013
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. 23594705 2013
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE In light of the findings from previous reports, screening for the JAK2-V617F mutation should be considered for any Ph(+) CML patients with thrombocytosis, leukocytosis, or erythrocytosis at diagnosis and for patients who subsequently develop thrombocytosis, leukocytosis, or erythrocytosis during follow-up, even for CML patients in complete cytogenetic response and major molecular response. 23613267 2013
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases. 24399021 2013
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. 23057517 2013
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE In the case of a patient with erythrocytosis and other signs of myeloproliferation, such as leukocytosis, thrombocytosis or splenomegaly, the diagnosis of polycythemia vera (PV) is likely, and I test serum erythropoietin and JAK2 mutations first. 22157736 2012
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Further investigations for intracoronary thrombus with no underlying atherosclerotic disease revealed positive Janus kinase 2 (JAK2) V617F gene mutation, and this was consistent with a diagnosis of ET with elevated platelet count. 22686448 2012
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease BEFREE More studies are needed to prove the role of JAK2 in ineffective erythropoiesis, iron metabolism and thrombocytosis and to determine if using JAK2 inhibitors in thalassemic patients can be a potential therapeutic option. 22203487 2012
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease BEFREE KANK1-PDGFRB is a unique example of a thrombocythemia-associated oncogene that does not signal via JAK2. 21685469 2011
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. 19939582 2011
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE These data also support the hypothesis that level of JAK2(V617F) expression influences the MPN phenotype: higher levels favor erythrocytosis whereas lower levels favor thrombocytosis. 21242185 2011
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE JAK2(V617F) was identified in 9 of 15 cases, including 7 of 9 with thrombocytosis (platelet count, >600 × 10(3)/μL [600 × 10(9)/L]) and 1 with 8% ring sideroblasts. 21350094 2011
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. 20633767 2010