Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE Essential thrombocythemia with the Philadelphia chromosome and BCR-ABL gene rearrangement. An entity distinct from chronic myeloid leukemia and Philadelphia chromosome-negative essential thrombocythemia. 2065312 1991
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE With PCR, we looked for BCR/ABL transcripts in 30 patients with CML and 4 with essential thrombocythaemia at time of diagnosis, finding a significant difference in the platelet counts of CML patients carrying b3a2 or b2a2 transcripts. 7718325 1995
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
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: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE Among 84 consecutive patients with chronic phase Ph-positive chronic myeloid leukemia (CML) who were investigated for the hybrid BCR/ABL mRNA, in six cases (7%) the disease mimicked essential thrombocythemia (ET) at presentation, because of marked thrombocytosis (platelet counts ranging from 1003 x 10(9)/l to 2800 x 10(9)/l) and moderate leukocytosis (WBC counts from 10 x 10(9)/l to 19 x 10(9)/l). 8684009 1996
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE Essential thrombocythemia with BCR/ABL rearrangement. 8689617 1996
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 AlteredExpression disease BEFREE We conclude that it is important to look for BCR-ABL transcript in Ph-neg ET patients and to follow them closely to investigate the nature of this translocation in this group of patients. 9326244 1997
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 GeneticVariation disease BEFREE The results of our study together with a review of literature data suggest that different BCR/ABL transcript variants may occur in CML mimicking ET, without an apparently significant prevalence of one type. 9460506 1998
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 AlteredExpression disease BEFREE We also report preliminary results of our attempt to examine concordance or discordance of BCR-ABL expression in the peripheral blood and bone marrow of Ph-neg ET patients. 10194123 1999
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE BCR-ABL positive essential thrombocythaemia: a variant of chronic myelogerous leukaemia or a distinct clinical entity: a special case report. 11296785 2000
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 Biomarker disease BEFREE Our results confirm the absence of BCR-ABL abnormalities in Ph-negative ET patients. 11342314 2000
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
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 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 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 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 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 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 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 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 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 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 Detection of BCR-ABL1 is critical in the distinction of ET from CML. 26754830 2016