Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 AlteredExpression disease BEFREE Mechanistically, we showed that SACLAC treatment led to reduced levels of splicing factor SF3B1 and alternative Mcl-1 mRNA splicing in multiple human AML cell lines. 31744877 2020
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease BEFREE This drug is approved for AML patients with MDS-related changes and therapy-related AML, both of which are frequently associated with complex karyotype. 30741367 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease 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: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease BEFREE Patients with double mutation or isolated SF3B1 mutation were less likely to be diagnosed with acute myeloid leukemia than patients with isolated TET2 mutation. 30587503 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 Biomarker disease 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: 23451
Gene Symbol: SF3B1
SF3B1
0.500 Biomarker disease BEFREE MP-CMML patients had significantly shorter overall survival (OS; <i>P</i> < .0001; hazard ratio: 0.53, 95% confidence interval: 0.42-0.65) and median duration to acute myeloid leukemia (AML) transformation (<i>P</i> < .0001; 15.2 vs 22.0 months) compared with MDS-CMML patients. 30054307 2018
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease BEFREE AML with LM-CH was found in 40 patients (23%) and was associated with clonal hematopoiesis of indeterminate potential years before AML, older age, secondary AML and more frequent MDS-type co-mutations (TET2, RUNX1 and EZH2). 27881874 2017
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 Biomarker disease BEFREE Results confirm high frequencies of RAS and other activated signaling mutations (10/12 AMLs) and identify new recurrent mutations in splicing factors (5/12 AMLs in SF3B1 and 2/12 AMLs in U2AF1), IKZF1 (3/12 AMLs), and TP53 (3/12 AMLs). 25331116 2015
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease BEFREE The SRSF2 mutation strongly correlated with old age (P < 0.001), while the mutation status of SF3B1 did not affect overall survival (OS), progression-free survival (PFS), or acute myeloid leukemia (AML) transformation. 26115659 2015
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease CLINVAR Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. 23634996 2013
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease BEFREE High-resolution melting analysis (HRMA) was established to detect the mutation hotspots (codon E622, H662, K666, and K700) of SF3B1 gene in 275 AML and 81 CML patients. 23395771 2013
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease CLINVAR SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia. 23395771 2013
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease BEFREE Over the past few years, large-scale genomic studies of patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) have unveiled recurrent somatic mutations in genes involved in epigenetic regulation (DNMT3A, IDH1/2, TET2, ASXL1, EZH2 and MLL) and the spliceosomal machinery (SF3B1, U2AF1, SRSF2, ZRSR2, SF3A1, PRPF40B, U2AF2, and SF1). 23645565 2013
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 GeneticVariation disease BEFREE In multivariate analysis including established risk factors, SF3B1 mutations were found to be independently associated with better overall survival (hazard ratio = 0.15, P = .025) and lower risk of evolution into AML (hazard ratio = 0.33, P = .049). 21998214 2011
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 Biomarker disease BEFREE Overall, 12 (12%) of the 99 patients developed s-MDS or acute myeloblastic leukemia. 10653868 2000
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 CausalMutation disease CGI
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.500 Biomarker disease HPO