Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 Biomarker disease 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
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 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 MPL W515 and JAK2 V617 mutation analysis in patients with refractory anemia with ringed sideroblasts and an elevated platelet count. 17194663 2006
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease 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
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 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 2009
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 2007
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 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 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 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 Biomarker disease BEFREE We describe an 11-month-old Ethiopian Jewish boy referred for evaluation of thrombocytosis who was found to be homozygous for MPL Baltimore. 23511495 2013
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease BEFREE Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis. 30183354 2018
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 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 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
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 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 Biomarker disease CTD_human Primary and secondary thrombocytosis in childhood. 15813844 2005
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 GeneticVariation disease LHGDN JAK2 and MPL mutations in myeloproliferative neoplasms. 18566540 2008
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.500 GeneticVariation disease LHGDN MPL 515 and JAK2 mutation analysis in MDS presenting with a platelet count of more than 500 x 10(9)/l. 18040685 2008
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 AlteredExpression disease LHGDN Thrombocytosis in preterm infants: a possible involvement of thrombopoietin receptor gene expression. 15647951 2005