Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE In the phase III MDS-005 study of patients with lower-risk, non-del(5q) myelodysplastic syndromes, lenalidomide was associated with a higher rate of ≥ 8 weeks red blood cell transfusion independence (RBC-TI) compared with placebo, but also with a higher risk of hematologic adverse events (AEs). 30770308 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Patient was initially diagnosed with low-risk myelodysplastic syndrome-refractory cytopenias and multilineage dysplasia (MDS-RCMD), progressed to AML after failing hypomethylating agent therapy. 28187034 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 Biomarker group BEFREE Higher PLA2G4A expression is associated with mutations in NRAS (P < .001), RUNX1 (P = .012), ASXL1 (P = .007), and EZH2 (P = .038), all of which are known to contribute to MDS development. 31738830 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 Biomarker group BEFREE Metformin, a widely used antidiabetic drug, has previously been demonstrated to exert anti-cancer effects in certain hematological malignancies, but its effects on the transformation of myelodysplastic syndromes to acute myeloid leukemia (AML-MDS) remain unclear. 31744691 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE An epigenetic modulator Additional sex combs-like 1 (ASXL1) is recurrently mutated in myeloid neoplasms such as myelodysplastic syndromes (MDS), acute myeloid leukemia (AML) and myeloproliferative neoplasms (MPNs). 30515738 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). 30618061 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Mutations of <i>SF3B1</i> are commonly seen in myelodysplastic syndromes with ring sideroblasts (MDS-RS)and MDS/myeloproliferative neoplasm (MPN-RS-T). 31473630 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 Biomarker group BEFREE In this study, we assessed the role of p53 in MDS and AML cells treated with decitabine using mouse models for MLL-AF9-driven AML and mutant ASXL1-driven MDS/AML. 31160638 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE TET2 rs2454206, TET2 rs12498609 and ASXL1 rs3746609 single nucleotide polymorphisms in patients with myelodysplastic syndromes. 30454965 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Co-occurrence of RUNX1 and ASXL1 mutations underlie poor response and outcome for MDS patients treated with HMAs. 31312376 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 Biomarker group BEFREE In our previous study, we identified fusion of the additional sex combs-like 1 (ASXL1) and teashirt zinc finger homeobox 2 genes in a patient with myelodysplastic syndrome. 30868899 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Prognostic impact of ASXL1 mutations in patients with myelodysplastic syndromes and multilineage dysplasia with or without ring sideroblasts. 30015104 2018
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Contrary to previous reports, we found no association between TET2 mutations and HMA treatment response (40% vs 41%; P = 0.9), even in the absence of ASXL1 mutations (P = 0.4).We conclude that ASXL1 mutations in MDS predict inferior response to treatment with both HMAs and LEN; response to LEN was also compromised by U2AF1 mutations and high risk karyotype; SF3B1 mutations identified patients likely to respond to LEN. 30152885 2018
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE We observed more frequent co-occurrence of ASXL1 mutations with trisomy 8 and chromosome 11 aberrations but a negative correlation with myelodysplastic syndromes (MDS)-related cytogenetic abnormalities, especially -5/del(5q) and -7/del(7q). 29411666 2018
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE ASXL1 mutations are frequent in myeloid malignances; these mutations are risk factors for the development of myelodysplasia and also appear as small clones during normal aging. 29532865 2018
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE These data indicate that HDAC inhibitors will be promising therapeutic drugs for MDS and AML with ASXL1 and SETBP1 mutations. 30367089 2018
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Acute pro-B-Cell lymphoblastic leukemia transformed from myelodysplastic syndrome with an ASXL1 missense mutation: A case report with literature review. 29805685 2018
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Previous studies on the pathogenesis of myelodysplastic syndrome (MDS) have identified multiple associated gene mutations, including mutations of tetmethylcytosinedioxygenase 2, isocitrate dehydrogenase [NADP(+)] 1 cytosolic, isocitrate dehydrogenase [NADP(+)] 2 mitochondrial and additional sex combs like 1 transcriptional regulator, all of which may be considered epigenetic regulators. 30546468 2018
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 Biomarker group GENOMICS_ENGLAND Recent advances in understanding clonal haematopoiesis in aplastic anaemia. 28107566 2017
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). 28188970 2017
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE While components and regulators of PRC2 such as ASXL1 and EZH2 are frequently mutated in MDS and AML, little is known about the role of PRC1. 29383137 2017
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 Biomarker group CTD_human Significantly enriched in high-risk MDS (in comparison to low-risk MDS), TP53, GATA2, KRAS, RUNX1, STAG2, ASXL1, ZRSR2 and TET2 mutations (type 2) had a weaker impact on sAML progression and overall survival than type-1 mutations. 27992414 2017
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Therefore, a meta-analysis to study the impact of ASXL1 mutations on patients with MDS and CMML is useful. 27077763 2016
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE BCOR/BCORL1 and PIGA mutations tend to disappear or show stable clone size and predict a better response to IST and a significantly better clinical outcome compared with mutations in DNMT3A, ASXL1, and other genes, which are likely to increase their clone size, are associated with a faster progression to MDS/AML, and predict an unfavorable survival. 27121470 2016
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 AlteredExpression group BEFREE Thus, together with our previous results, the present results indicate that the truncating ASXL1 mutant is indeed expressed in MDS cells and may play a role in MDS pathogenesis not previously considered. 26700326 2016