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 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
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease 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
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 2014
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 MPL Baltimore mutation and thrombocytosis: case report and literature review. 23511495 2013
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. 19608689 2011
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Background The MPL(Ser505Asn) mutation has been reported to be a cause of hereditary thrombocythemia. 19713221 2011
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis. 20151976 2010
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease 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
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 AlteredExpression disease 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 2010
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE MPL gene mutations seem to be associated with thrombocytosis, regardless of the type of myeloproliferative neoplasm. 19643476 2010
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Germline mutations in families with hereditary thrombocythemia have been identified in the gene for thrombopoietin (TPHO) and its receptor, MPL. 18367486 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions. 18484677 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN no MPL (myeloproliferative leukemia virus oncogene thrombopoietin recept) W515L/K mutations were found in any patients with refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) 18040685 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Germline gain-of-function (GOF) MPL mutation (MPLS505N) causes familial thrombocytosis.Somatic JAK3 (e.g. 18297515 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN JAK2 and MPL mutations in polycythemia vera, essential thrombocytosis, and primary myelofibrosis [review] 18566540 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE By contrast, MPL gene mutations were not associated with erythrocytosis, but segregated primarily with the phenotypes of thrombocytosis, extramedullary disease, myelofibrosis, and osteosclerosis. 17920755 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease CTD_human In contrast to the acquired MPDs, mutations of the erythropoietin receptor and thrombopoietin receptor have been identified in familial forms of nonclonal erythrocytosis and thrombocytosis, respectively. 16484586 2006
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 AlteredExpression disease LHGDN 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, resulting in the subsequent thrombocytosis in preterm infants. 15647951 2005
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease CTD_human Primary and secondary thrombocytosis in childhood. 15813844 2005
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 AlteredExpression disease BEFREE Thrombocytosis in preterm infants: a possible involvement of thrombopoietin receptor gene expression. 15647951 2005
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN K39N represents an identified functional Mpl polymorphism and is associated with altered protein expression of Mpl and a clinical phenotype of thrombocytosis. 15269348 2004
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE A unique point mutation, serine 505 to asparagine 505 (Ser505Asn), was identified in the transmembrane domain of the c-MPL gene in all of the 8 members with thrombocythemia, but in none of the other 8 unaffected members in this FET family. 14764528 2004
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. 15269348 2004
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Hereditary thrombocythaemia is a genetically heterogeneous disorder: exclusion of TPO and MPL in two families with hereditary thrombocythaemia. 10930985 2000