Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE The ROC curve analysis showed that a level of WT1 transcript >10 WT1 copies/10<sup>4</sup>ABL1 enabled the diagnosis of PMF with a specificity of 95.8% (PMF vs ET; ROC AUC = 0.91). 30612065 2019
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE In BCR-ABL1-negative myeloproliferative neoplasms, myelofibrosis (MF) is either primary (PMF) or secondary (SMF) to polycythemia vera or essential thrombocythemia. 31340059 2019
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE The current study reported cases of two patients with an initial diagnosis of ET in the presence of JAK2V617F mutation and BCR‑ABL translocation by fluorescent in situ hybridization. 29845291 2018
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE Essential thrombocythemia (ET) is a BCL-ABL1-negative myeloproliferative neoplasm. 28415571 2017
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE The classical BCR-ABL1-negative myeloproliferative neoplasms (MPN) include primary myelofibrosis (PMF), polycythemia vera (PV) and essential thrombocythemia (ET). 29134817 2017
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients. 28406068 2017
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE The classical BCR-ABL1-negative myeloproliferative neoplasms (MPN) include essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF). 26933174 2016
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE Detection of BCR-ABL1 is critical in the distinction of ET from CML. 26754830 2016
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE Hence, we examined a cohort of 123 myeloproliferative neoplasm (MPN) patients without BCR-ABL1 rearrangement and additional ET patients (n=96) for coexistence of JAK2 and CALR mutations. 27486987 2016
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE Polycythaemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (MF), are the most common myeloproliferative neoplasms (MPN) in patients without the BCR-ABL1 gene rearrangement. 23986553 2014
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2(V617F) mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). 22847163 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE The BCR/ABL-negative myeloproliferative neoplasms (MPNs) of essential thrombocythemia, polycythemia vera, and primary myelofibrosis, over the natural course of their disease, have an increasing predisposition to transform to overt acute myeloid leukemia (AML)-most appropriately referred to as MPN-blast phase (MPN-BP). 22170483 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
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
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE We show that chromosome 1 abnormalities are most frequent in BCR-ABL-negative classic myeloproliferative neoplasms (MPN): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). 20002154 2010
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF), entered the spotlight in 2005 when the unique somatic acquired JAK2 V617F mutation was described in >95% of PV and in 50% of ET and PMF patients. 18769448 2008
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE The diagnosis and management of the BCR-ABL-negative myeloproliferative disorders (MPDs) of polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are at an explosive crossroads of scientific investigation and evolving paradigms since the discovery of the tyrosine kinase-activating JAK2V617F mutation in 2005. 18024651 2007
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE We set-up a multiplex real-time polymerase chain reaction assay followed by capillary electrophoresis, designed to simultaneously screen the two main genetic lesions associated with CMDs, i.e. the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that characterises polycythaemia vera and a proportion of cases of essential thrombocythemia and idiopathic myelofibrosis. 17285276 2007
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE Patients presenting clinical features of PT expressing the Ph chromosome or the BCR/ABL fusion gene have been well documented but, to our knowledge, this is the first report of evolution from typical PT to chronic myeloid leukemia. 16682291 2006
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 AlteredExpression disease LHGDN We detected the messenger RNA expression of the bcr-abl gene using reverse transcription-polymerase chain reaction in peripheral-blood leukocytes (PBLs) from 63 patients with myeloproliferative disorders (including CML, ET, and polycythemia vera [PV]) and 51 normal, healthy volunteers. 14966468 2004
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 AlteredExpression disease BEFREE Detection of bcr-abl gene expression at a low level in blood cells of some patients with essential thrombocythemia. 14966468 2004