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 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 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 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 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 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 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 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 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