Disease: Primary Myelofibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease RGD Evaluation of bone marrow reticulin formation in chronic immune thrombocytopenia patients treated with romiplostim. 19671919 2009
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 SomaticCausalMutation disease ORPHANET DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF. 16834459 2006
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 SomaticCausalMutation disease ORPHANET MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 16868251 2006
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease HPO
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease LHGDN Haematopoietic cell lineage distribution of MPLW515L/K mutations in patients with idiopathic myelofibrosis. 17408398 2007
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease LHGDN JAK2 and MPL mutations in myeloproliferative neoplasms. 18566540 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease LHGDN Anaemia characterises patients with myelofibrosis harbouring Mpl mutation. 17408465 2007
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease LHGDN Based on the hypothesis that JAK-STAT signaling is central to the pathogenesis of JAK2V617F-negative MPN, genomic studies have identified JAK2 exon 12 mutations in JAK2V617F-negative PV and activating mutations in MPL in patients with JAK2V617F-negative ET and PMF. 18754026 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 AlteredExpression disease LHGDN Demonstration of MPLW515K, but not JAK2V617F, in in vitro expanded CD4+ T lymphocytes. 17507998 2007
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 CausalMutation disease CGI
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease CTD_human
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease CLINVAR New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition. 18528423 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 CausalMutation disease CLINVAR
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease CLINVAR Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis. 20151976 2010
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders. 18669880 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease BEFREE Recently, calreticulin (CALR) mutations were discovered in ~30% JAK2/MPL-unmutated ET and primary myelofibrosis. 28415571 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms characterized by recurrent somatic mutations in JAK2, CALR, and MPL. 27727468 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Besides the driver mutations in JAK2, MPL, and CALR genes, the deregulation of miRNA expression may also contribute to the pathogenesis of PMF. 30259659 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 AlteredExpression disease BEFREE The thrombopoietin/MPL axis is activated in the Gata1<sup>low</sup> mouse model of myelofibrosis and is associated with a defective RPS14 signature. 28622305 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Recent studies have also identified novel JAK2 and MPL mutations in patients with essential thrombocythemia and myelofibrosis (MF). 27913528 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy. 19713221 2010
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease BEFREE A thrombopoietin receptor antagonist is capable of depleting myelofibrosis hematopoietic stem and progenitor cells. 27114459 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE We show that this antibody specifically recognized patients harboring different types of CALR mutation with no staining in healthy controls and JAK2- or MPL-mutated ET and PMF. 24618731 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. 17709604 2007
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease BEFREE Conversely, elimination of macrophages expressing MPL by clodronate liposomes reversed the MF phenotype of the murine model, suggesting that fibrocyte differentiation induced by MPL activation contributes to the progression of MF. 28386106 2017