Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis. 18160670

2008

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE In a retroviral mouse model performed in Mpl<sup>-/-</sup> mice, MPL P106L could induce a thrombocytosis phenotype with high circulating THPO levels. 28034873

2016

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE His postoperative management included the examination of his peripheral blood as well as bone marrow, which confirmed that the cause of his elevated platelet count was due to JAK2 V617F mutation that is treated by hydroxyurea and aspirin after being discharged from the hospital. 18534315

2008

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE We have identified 2 families with hereditary thrombocytosis presenting novel heterozygous germ-line mutations of JAK2. 24398328

2014

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count. 17194663

2006

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE Hereditary thrombocytosis has been shown to be accounted for by mutations in THPO, MPL, and JAK2 genes. 31808840

2019

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE The thrombopoietin receptor (MPL) has been shown to be mutated (MPL W515L) in myelofibrosis and thrombocytosis yet new approaches to treat this disorder are still required. 26919114

2016

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation 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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases. 24399021

2013

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE A decrease in expression of the Mpl protein can cause thrombocytosis even in the absence of mutations in the coding sequence, due to a shift in the balance between stimulation of signaling in megakaryopoiesis and removal of thrombopoietin by receptor mediated internalization in platelets. 20008195

2009

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE The observed biological difference in circulating granulocyte involvement by the JAK2 V617F clone necessitates a sensitive molecular assay for the diagnostic investigation of thrombocytosis. 16916724

2006