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 GeneticVariation BEFREE We report, for the first time, a non-syndromic infant with a reversible myeloproliferative disease that harbors a germline hereditary thrombopoietin (THPO) gene mutation, a condition that is known to induce familial thrombocytosis at increasing age. 25728710

2016

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

2015

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

2015

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

2014

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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors. 24398328

2014

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE Genotyping for CALR mutations represents a novel useful tool for establishing a clonal myeloproliferative disorder in JAK2 and MPL wt patients with thrombocytosis and may have prognostic and therapeutic relevance. 24371211

2014

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

2014

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 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: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE MPL Baltimore mutation and thrombocytosis: case report and literature review. 23511495

2013

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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker BEFREE KANK1-PDGFRB is a unique example of a thrombocythemia-associated oncogene that does not signal via JAK2. 21685469

2012

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. 19608689

2011

Entrez Id: 7066
Gene Symbol: THPO
THPO
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE This review will focus on the molecular pathogenesis of hereditary thrombocytosis, underlining those clinical pictures that are specifically associated with mutations in the genes of thrombopoietin or in its receptor. 21303356

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE The V617F JAK2 mutation was absent within the patients with secondary erythrocytosis or thrombocytosis. 19939582

2011

Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE Background The MPL(Ser505Asn) mutation has been reported to be a cause of hereditary thrombocythemia. 19713221

2011

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

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE The remaining cases usually lack the JAK2(V617F)mutation, have a platelet count less than 600 × 10(3)/μL (600 × 10(9)/L), and may represent an MDS or MPN with thrombocytosis of unknown mechanisms. 21350094

2011

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. 19843380

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE The lack of thrombocytosis suggests that additional events may be required for JAK2 V617F to cause ET, but qualitative platelet abnormalities induced by JAK2 V617F may contribute to the hemostatic complications of PV. 17183644

2010

Entrez Id: 3717
Gene Symbol: JAK2
JAK2
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation BEFREE Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis. 20194893

2010