Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
0.050 GeneticVariation BEFREE The leukemic CD71<sup>+</sup> cells were more sensitive to INCB18424, a potent JAK inhibitor, than KSL cells. p53 restoration could ameliorate Jak2 V617F-transduced p53-null erythroleukemia. 28068330

2017

dbSNP: rs77375493
rs77375493
0.050 GeneticVariation BEFREE Specifically, five derivative compounds of G6 having structural similarity to the original lead compound were obtained and analyzed for their ability to (i) inhibit Jak2-V617F-mediated cell growth, (ii) inhibit the levels of phospho-Jak2, phospho-STAT3, and phospho-STAT5; (iii) induce apoptosis in human erythroleukemia cells; and (iv) suppress pathologic cell growth of Jak2-V617F-expressing human bone marrow cells ex vivo. 20667821

2010

dbSNP: rs77375493
rs77375493
0.050 GeneticVariation BEFREE We investigated the activity of (E)-3(6-bromopyridin-2-yl)-2-cyano-N-(S0-1phenylethyl)acrylamide (WP1066), a novel analogue of the JAK2 inhibitor AG490, in JAK2 V617F-positive erythroleukemia HEL cells and in blood cells from patients with polycythemia vera. 18245540

2008

dbSNP: rs77375493
rs77375493
0.050 GeneticVariation BEFREE Similar inhibitory effects were found with the JAK2(V617F)-positive human erythroleukemia HEL cell line. 17178722

2007

dbSNP: rs77375493
rs77375493
0.050 GeneticVariation BEFREE Using this assay and serial dilutions of an erythroleukemia cell line harboring the homozygous JAK2 V617F mutation, we successfully detected the mutation within a background of wild type sequences at a sensitivity of 2.5%. 17022694

2006

dbSNP: rs121913502
rs121913502
0.020 GeneticVariation BEFREE Recent studies revealed that allosteric inhibitors could selectively inhibit IDH2/R140Q and induce differentiation of TF-1 erythroleukemia and primary human AML cells. 29184081

2017

dbSNP: rs121913502
rs121913502
0.020 GeneticVariation BEFREE To further understand the role of IDH mutations in cancer, we conducted mechanistic studies in the TF-1 IDH2 R140Q erythroleukemia model system and found that IDH2 mutant expression caused both histone and genomic DNA methylation changes that can be reversed when IDH2 mutant activity is inhibited. 25398940

2015

dbSNP: rs1057519996
rs1057519996
0.010 GeneticVariation BEFREE In conclusion, persistently active STAT5 can recruit normal p53, like in the case of MPN cells, but also p53 mutants, such as p53 M133K in human erythroleukemia cells, leading to pathologic gene expression that differs from canonical STAT5 or p53 transcriptional programs. 24681953

2015

dbSNP: rs1293657674
rs1293657674
0.010 GeneticVariation BEFREE In this study, constitutive Ras activation by H-ras(G12V) evoked megakaryocytic maturation of erythroleukemia cell lines F-36P and K562, but not of myeloid cell line 32D cl3 that lacks GATA-1. 11001896

2000