Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Myelofibrosis (MF) is a BCR-ABL1-negative myeloproliferative neoplasm diagnosed de novo or developed from essential thrombocythemia (ET) or polycythemia vera (PV). 22793267 2013
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Myelofibrosis (MF) is a BCR-ABL1-negative myeloproliferative neoplasm characterized by clonal myeloproliferation, dysregulated kinase signaling, and release of abnormal cytokines. 25232060 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Myelofibrosis (MF) is a BCR-ABL-negative myeloproliferative neoplasm characterized by anemia, splenomegaly, debilitating constitutional symptoms, and shortened survival. 26181658 2015
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Myelofibrosis (MF) and polycythemia vera (PV) are BCR-ABL1-negative myeloproliferative neoplasms associated with somatic hematopoietic stem cell mutations leading to over activation of JAK-STAT signaling. 27017614 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Primary myelofibrosis is a unique entity among BCR-ABL-negative myeloproliferative diseases, manifesting as bone marrow fibrosis and pancytopenia. 27539616 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Myelofibrosis is a BCR-ABL-negative myeloproliferative neoplasm characterized by abnormal hematopoiesis. 27672139 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Primary myelofibrosis (PMF) is a rare chronic BCR-ABL1-negative myeloproliferative neoplasm characterized by progressive bone marrow fibrosis, inefficient hematopoiesis, and shortened survival. 27756071 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 GeneticVariation disease BEFREE Primary myelofibrosis (PMF) is one of the classic BCR-ABL1 negative myeloproliferative neoplasms (MPN). 29256926 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Myelofibrosis (MF) is a clinical manifestation of chronic BCR-ABL1-negative chronic myeloproliferative neoplasms. 29562644 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE ABSTRACT: Background The BCR-ABL-negative myeloproliferative neoplasms, i.e., polycythemia vera, essential thrombocythemia (ET), and myelofibrosis (MF), are characterized by mutations in JAK2, CALR, or MPL. 30889303 2019
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE After 5 months, BCR-ABL fusion signals decreased to 5%, and myelofibrosis improved from MF Grade 2 to 1; she then underwent allogeneic bone marrow transplantation from an unrelated donor. 30879266 2019
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 GeneticVariation disease BEFREE As the second most common mutation in BCR/ABL-negative MPNs, CALR mutation has been included in the latest World Health Organization (WHO) classification criteria as one of the main diagnostic criteria for both essential thrombocythemia (ET) and PMF. 29560522 2018
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE BCR-ABL1-positive or PDGFRB-rearranged) and also assist in specific treatment selection (e.g. lenalidomide therapy is active in MF associated with del(5q). 19141119 2009
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE BCR-ABL1-negative MPN is a subcategory that includes primary myelofibrosis (MF), post-essential thrombocythemia MF, and post-polycythemia vera MF. 28499938 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are clonal stem cell disorders defined by proliferation of one or more myeloid lineages, and carry an increased risk of vascular events and progression to myelofibrosis and leukemia. 28543980 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Chromosomal deletions of band 13q14 occur recurrently in BCR/ABL negative chronic myeloproliferative disorders (CMPD), including myelosclerosis with myeloid metaplasia (MMM), polycythemia vera (PV), essential thrombocythemia (ET), juvenile chronic myeloid leukemia (JCML), and the so-called BCR/ABL- chronic myeloid leukemia (CML). 8527391 1995
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Clonal hematologic diseases of the blood such as polycythemia vera, essential thrombocythemia and primary myelofibrosis belong to the BCR-ABL negative Myeloproliferative Neoplasms (MPN). 28914569 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Comparative genomic hybridization (CGH), using oligo arrays with either 44,000 or 105,000 oligonucleotides, was performed on granulocyte-derived DNA from 71 patients with BCR-ABL-negative classic myeloproliferative neoplasms (MPNs): 32 primary myelofibrosis (PMF), 26 polycythemia vera (PV) and 13 essential thrombocythemia (ET). 18937974 2009
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 GeneticVariation disease BEFREE Genetic lesions such as JAK2 mutations and BCR-ABL translocation are often mutually exclusive in MPN patients and lead to essential thrombocythemia, polycythemia vera, or myelofibrosis or chronic myeloid leukemia, respectively. 28335073 2017
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 GeneticVariation disease BEFREE In 1960, Nowell and Hungerford discovered an invariable association between the Philadelphia chromosome (subsequently shown to harbor the causal BCR-ABL1 mutation) and CML; accordingly, the term MPN is primarily reserved for PV, ET, and PMF, although it includes other related clinicopathologic entities, according to the World Health Organization (WHO) classification system. 26492355 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 GeneticVariation disease BEFREE In the first case (female, aged 65, in blastic transformation which developed one year after the initial diagnosis of myelofibrosis), a t(14;22) (q32;q11) was found in association with several other chromosomal abnormalities [48,XX,+X,+5,del(5) (q12q32),+8,der(9)t(9;11)(q32;q11),-11]; molecular analysis demonstrated the presence of a BCR-ABL chimeric gene and mRNA transcript of the b2-a2 type. 8908174 1996
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Is there a role for JAK inhibitors in BCR-ABL1-negative myeloproliferative neoplasms other than myelofibrosis? 25520049 2014
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 GeneticVariation disease BEFREE Moreover, the detection of BCR-ABL translocation appears to be crucial especially in the case of treated CIMF with an atypical course to identify CML before acute transformation. 18448166 2008
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 Biomarker disease BEFREE Most affected patients suffer from the classic BCR/ABL1-negative myeloproliferative disorders (MPD), especially polycythemia vera (74% of n = 506), but a subset of people with essential thrombocythemia (36% of n = 339) or myelofibrosis with myeloid metaplasia (44% of n = 127) bear the identical mutation, as do a few individuals with myelodysplastic syndromes or an atypical myeloid disorder (7% of n = 556). 16321848 2006
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.100 GeneticVariation disease BEFREE Myeloproliferative neoplasms (MPN) that do not contain the BCR-ABL1 mutation include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). 22035746 2011