Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease BEFREE We describe two patients with CML and normal karyotype in whom cryptic rearrangements involving chromosomes 9 and 22 resulted in the causative BCR/ABL gene. 16337861 2005
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease BEFREE We report a rare cryptic ins(12;9)(p13;q34q34), a chromosomal abnormality involving the ABL1 (9q34) and the ETV6 (alias TEL; 12p13) genes, detectable only by fluorescence in situ hybridization (FISH), in a patient with Philadelphia-negative chronic myeloid leukemia (CML). 19480935 2009
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease BEFREE The development of BCR/ABL1 tyrosine kinase inhibitors (TKIs) over the past 20 years has dramatically improved the outcomes for patients with every stage of Philadelphia chromosome-positive (Ph+) chronic myeloid leukemia (CML). 26585806 2015
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 AlteredExpression disease BEFREE The quantitation of BCR-ABL1 messenger RNA is requisite for patients with CML, and reverse-transcription real-time quantitative polymerase chain reaction (RQ-PCR) is the method used most extensively in testing laboratories worldwide. 28222016 2017
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 AlteredExpression disease BEFREE Chronic myeloid leukemia (CML) is characterized by the expression of the P210 BCR/ABL fusion protein. 14712293 2004
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE Chronic Myeloid Leukemia (CML) is sustained by a small population of cells with stem cell characteristics known as Leukemic Stem Cells that are positive to BCR-ABL fusion protein, involved with several abnormalities in cell proliferation, expansion, apoptosis and cell cycle regulation. 26985855 2016
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE This may suggest that the critical event in CML is the formation of a BCR/ABL chimeric gene regardless of its locus in the genome. 8697426 1996
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE Transposition of duplicated chromosomal segment involving fused BCR-ABL gene or ABL oncogene alone in chronic myelocytic leukemia and Ph chromosome-positive acute leukemia with complex karyotypes. 10812164 2000
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE The BCR/ABL tyrosine kinase has been implicated in the pathogenesis of chronic myelogenous leukemia (CML) and Philadelphia chromosome-positive (Ph(+)) acute lymphoblastic leukemia (ALL). 11264164 2001
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease BEFREE In conclusion, we postulate that BCR-ABL1 kinase-mediated inhibition of UNG2 contributes to accumulation of point mutations responsible for TKI resistance causing the disease relapse, and perhaps also other point mutations facilitating malignant progression of CML. 23047475 2013
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE A 50-year-old female patient with BCR/ABL negative CML and multiple complications of Graves disease, Sweet syndrome, and a fatal pulmonary alveolar proteinosis (PAP) is described in the current study. 10931454 2000
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease CLINVAR Dynamic change of T315I BCR-ABL kinase domain mutation in Korean chronic myeloid leukaemia patients during treatment with Abl tyrosine kinase inhibitors. 19768693 2010
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE This observation prompted us to explore anti-leukemic effects of the combination dasatinib + bosutinib in highly resistant primary CML cells, various CML cell lines (K562, K562R, KU812, KCL22) and Ba/F3 cells harboring various BCR-ABL1 mutant-forms. 30711891 2019
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE The use of the tyrosine kinase inhibitor imatinib, which blocks the enzymatic action of the BCR-ABL fusion protein, has represented a critical advance in chronic myeloid leukemia (CML) treatment. 16598311 2006
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease CLINVAR Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification. 11423618 2001
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease BEFREE Chronic myeloid leukemia: the concepts of resistance and persistence and the relationship with the BCR-ABL1 transcript type. 31455852 2019
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease CTD_human Synergy between imatinib and mycophenolic acid in inducing apoptosis in cell lines expressing Bcr-Abl. 15604220 2005
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease BEFREE Additional chromosome abnormalities, BCR-ABL tyrosine kinase domain mutations and clinical outcome in Hungarian tyrosine kinase inhibitor-resistant chronic myelogenous leukemia patients. 22005133 2012
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease BEFREE Seminested polymerase chain reaction followed by denaturing high-performance liquid chromatography with sequence confirmation were used to detect BCR-ABL1 mutations in 202 CML patients with imatinib resistance at different CML phases. 23062378 2013
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE The aberrant abl protein product of a chronic myelogenous leukemia (CML) blast crisis cell line (K562) and of five Philadelphia chromosome-positive CML patients in blast crisis were analyzed by an immune complex kinase assay using two antipeptide sera generated against the hydrophilic domain of v-abl and a region within the third exon of the breakpoint cluster region (bcr) respectively. 2885048 1987
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease CLINVAR BCR-ABL kinase domain mutations, including 2 novel mutations in imatinib resistant Malaysian chronic myeloid leukemia patients-Frequency and clinical outcome. 24456693 2014
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE Gold Nanoparticles for BCR-ABL1 Gene Silencing: Improving Tyrosine Kinase Inhibitor Efficacy in Chronic Myeloid Leukemia. 28624216 2017
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE Bcr-Abl proteins are effective inducers of the leukemic phenotype in chronic myeloid leukemia (CML) and distinct variants of acute lymphoblastic leukemia (ALL). 12750174 2003
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 GeneticVariation disease BEFREE In Philadelphia-positive chronic myeloid leukemia (CML), imatinib resistance frequently emerges because of point mutations in the ABL1 kinase domain, but may also be the consequence of uncontrolled upstream signaling. 26072332 2015
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.800 Biomarker disease BEFREE Chronic myeloid leukemia in chronic phase (CML-CP) stem cells (LSCs) produce high levels of mitochondrial ROS, causing oxidative DNA damage, resulting in genomic instability, generating imatinib-resistant BCR-ABL1 kinase mutants and additional chromosomal aberrations. 22616753 2012