Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.020 GeneticVariation disease BEFREE Two additional SNPs, rs2736100 (TERT) and rs9376092 (HBS1L/MYB), achieve genome-wide significance when including JAK2(V617F)-positive cases. rs9376092 has a stronger effect in JAK2(V617F)-negative cases with CALR and/or MPL mutations (Breslow-Day P=4.5 × 10(-7)), whereas in JAK2(V617F)-positive cases rs9376092 associates with essential thrombocythemia (ET) rather than polycythemia vera (allelic χ(2) P=7.3 × 10(-7)). 25849990 2015
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.020 AlteredExpression disease BEFREE We speculate that aberrant expression of p27, c-MYB, and EPOR may contribute to these abnormal features in PV erythropoiesis. 19264517 2009