Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.020 Biomarker disease BEFREE In polycythemia vera patients, a positive correlation between the allele burden of JAK2V617F mutation and PLT counts was found; in essential thrombocythemia (ET) patients, WBC counts, RBC counts, HB, and HCT were higher in mutated patients than in wild-type patients. 27976991 2017
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.020 GeneticVariation disease BEFREE Lastly, JAK2 V617F mutant allele burden was found much higher in polycythemia vera (PV) patients [median(P25-P75): 45.02%(35.12%-54.22%)] than in essential thrombocythemia (ET) patients [median(P25-P75): 28.23%(17.77%-41.66%)], and that it increased with WBC counts (r = 0.393, p = 0.000) and RBC counts(r = 0.215, p = 0.001), other than platelet counts (r = -0.051, p = 0.452). 23469088 2013