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 CTD_human
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 CausalMutation disease CGI
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 Biomarker disease HPO
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 CausalMutation disease CLINVAR
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 AlteredExpression disease BEFREE The MPL gene expression was detected in platelets and peripheral blood mononuclear cells from the majority of patients with MPD including chronic myelocytic leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). 8589367 1995
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 GeneticVariation disease BEFREE 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 GeneticVariation disease BEFREE In addition, a mutation of the thrombopoietin receptor, MPLW515L, has been documented in some patients with IMF. 17222772 2007
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 Anaemia characterises patients with myelofibrosis harbouring Mpl mutation. 17408465 2007
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE These data indicate that MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype. 17408465 2007
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 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 The chronic myeloproliferative disorders (MPD), polycythemia vera (PV), essential thrombocytosis, and idiopathic myelofibrosis (IMF), are characterized by a spectrum of clinical features and linked by common genetic lesions in JAK2 and MPL. 17920755 2007
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE More recently, another mutation in the juxtamembrane domain of the thrombopoietin receptor Mpl was discovered in about 5% of patients with CIMF and ET. 18220909 2007
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE For instance, the presence of a JAK2 mutation is now considered conditio sine qua non for the diagnosis of PV and the World Health Organization classification system has recently revised its diagnostic criteria for PV, ET, and PMF to include JAK2 and MPL mutations as clonal markers. 18429051 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet cDNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF. 18451306 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		1.000 GeneticVariation disease BEFREE MPL W515L mutation was found to be harbored in only one of 102 patients, who had essential thrombocythemia (ET, 1.0%) and was not detected in patients with polycythemia vera (PV), idiopathic myelofibrosis (IMF), and chronic myelogenous leukemia (CML). 18464114 2008
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 GeneticVariation disease LHGDN JAK2 and MPL mutations in myeloproliferative neoplasms. 18566540 2008
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 GeneticVariation disease BEFREE The other three cases of PMF with 1p uniparental disomy had point mutations of the MPL gene, either a novel mutation (S204F) or the previously described W515L. 18723266 2008
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 GeneticVariation disease BEFREE 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