Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 AlteredExpression BEFREE These results confirm the findings of two previous studies that thrombopoietin expression is not the main cause of thrombocytosis in the 3q21q26 syndrome. 8946927

1996

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 AlteredExpression BEFREE The mutation was not found in three other unaffected cases from the family except in another proband's daughter who did not present thrombocytosis but had a high TPO level. 28979237

2017

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker BEFREE The recently characterized protein-protein interaction of CALR mutants and MPL receptor has advanced our knowledge on the functional role of CALR mutants in thrombocythemia but it has also uncovered limitations of the current established research models. 28589084

2017

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: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker BEFREE Following the observation of thrombopoietin (TPO) gene abnormalities as the cause of familiar cases of thrombocythemia similar derangements of TPO and/or its receptor (c-mpl) might be surmised to be at the root of increased platelet count also in non-familiar (sporadic) cases. 15390356

2005

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker BEFREE IL-6 acts on hepatocytes to enhance the production of thrombopoietin, which in turn interacts with its cognate receptor c-MPL on megakaryocytes and bone marrow progenitor cells to promote their expansion and proliferation, resulting in reticulated thrombocytosis. 28504650

2017

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 AlteredExpression BEFREE Data evaluated included demographics, platelet counts, TPO levels, and thrombocytosis management strategies. 31091211

2020

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: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 AlteredExpression BEFREE Our results suggest that low expression of TPO receptor on platelets until 1 month after birth cause a decreased TPO clearance and keep a high level of free TPO in blood, thereby promoting platelet production from megakaryocytes or their progenitors in bone marrow, resulting in the subsequent thrombocytosis in preterm infants. 15647951

2005

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: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker BEFREE Transgenic mice overexpressing human c-mpl ligand exhibit chronic thrombocytosis and display enhanced recovery from 5-fluorouracil or antiplatelet serum treatment. 9057636

1997

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: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker BEFREE The contribution of increased TPO protein synthesis by a translational mechanism was recently appreciated as the cause for hereditary thrombocythemia and will have to be elucidated in other conditions of thrombocytosis in association with increased TPO levels. 10786650

2000

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