Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE The BCR-ABL1 fusion gene is the driver mutation of Philadelphia chromosome-positive chronic myeloid leukemia (CML). 31707540 2020
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE Key genetic aberrations include the BCR-ABL1 gene rearrangement in Philadelphia chromosome-positive chronic myelogenous leukemia (CML) and JAK2/MPL/CALR aberrations in Philadelphia chromosome-negative MPNs. 29951914 2018
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 Biomarker disease BEFREE Patients with Philadelphia chromosome-positive chronic myeloid leukemia in chronic phase with MR<sup>4.5</sup> (BCR-ABL1⩽0.0032% on the International Scale (BCR-ABL1<sup>IS</sup>)) and ⩾2 years of frontline nilotinib therapy were enrolled. 28218239 2017
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 AlteredExpression disease BEFREE The BCR-ABL1 transcript type influences response and outcome in Philadelphia chromosome-positive chronic myeloid leukemia patients treated frontline with imatinib. 28466557 2017
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE The objective of this study was to characterize the ABL1-BCR fusion gene in 76 BCR-ABL1-positive chronic myeloid leukemia (CML) patients regarding expression as well as genomic status, to assess the frequency of ABL1-BCR gene deletion in these patients, which has been reported to be an adverse prognostic factor in Philadelphia chromosome-positive CML. 11979553 2002
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 Biomarker disease BEFREE The breakpoint cluster region site in patients with Philadelphia chromosome-positive chronic myelogenous leukemia. Clinical, laboratory, and prognostic correlations. 8625225 1995
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 Biomarker disease BEFREE Quantification of the breakpoint cluster region rearrangement for clinical monitoring in Philadelphia chromosome-positive chronic myeloid leukemia. 7742530 1995
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE We investigated the breakpoints of the bcr gene in 46 Ph1-positive CML cases by Southern blot analysis of bcr rearrangement, and in 17 CML cases by a combination of Southern blot analysis and RT-PCR. 7948305 1994
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE The positions of the breakpoint within the breakpoint cluster region (bcr) on the bcr-abl gene in 22 chronic-phase cases of Ph1-positive CML were determined using conventional Southern blots, and the splicing pattern were also determined the species of the fused bcr-abl mRNA in 79 CML cases using the polymerase chain-reaction procedure (RT-PCR). 8374529 1993
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE No correlation between site of breakpoint in the BCR gene and platelet counts in Philadelphia chromosome-positive CML. 1405723 1992
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 Biomarker disease BEFREE M-BCR breakpoint location does not predict survival in Philadelphia chromosome-positive chronic myeloid leukemia. 1398276 1992
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE Leukemia cells from adults with Philadelphia (Ph1)-chromosome positive chronic myelogenous leukemia (CML) have a characteristic molecular rearrangement between the BCR and ABL genes whereby major breakpoint cluster region (Mbcr) exons 2 or 3 are joined to ABL exon II. 1932752 1991
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 Biomarker disease BEFREE Philadelphia chromosome-positive chronic myelogenous leukemia with deleted fusion of BCR and ABL genes. 2157692 1990
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 Biomarker disease BEFREE Previous reports have indicated that mutations of the RAS oncogenes are not associated with the chronic phase of Philadelphia chromosome-positive chronic myelogenous leukemia (Ph1+ CML). 2205309 1990
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE The standard t(9;22)(q34;q11) found in Philadelphia (Ph) chromosome positive chronic myeloid leukemia (CML) involves a highly restricted (5.8 kb) chromosome 22 breakpoint cluster region (bcr), which results in the formation of a chimeric gene comprising exons from the 5' end of bcr and protooncogene c-abl coding sequences from chromosome 9. 2649233 1989
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE It seems that genomic alterations within bcr and abl cannot account, alone, for the duration of the chronic phase of Ph1 positive CML and those quantitative and/or qualitative alterations of the p210 bcr/abl protein, unluckily awkward to prove, might be responsible for the atypical clinical features of these CML long survivors. 2733455 1989
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 PosttranslationalModification disease BEFREE Basophils exhibit rearrangement of the bcr gene in Philadelphia chromosome-positive chronic myeloid leukemia. 3258049 1988
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 PosttranslationalModification disease BEFREE T lymphocytes lack rearrangement of the bcr gene in Philadelphia chromosome-positive chronic myelocytic leukemia. 3495303 1987
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 Biomarker disease BEFREE The breakpoint cluster region (bcr) that is rearranged in all patients with Philadelphia chromosome positive chronic myeloid leukemia, was normal in all cases, including at least one patient with Philadelphia chromosome positive ALL. 3011151 1986
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 Biomarker disease BEFREE In contrast to JCML, PB from six adults with Philadelphia (Ph1) chromosome-positive chronic myelogenous leukemia (Ph1 + CML) yielded CSA-dependent CFU-C colonies which were composed of granulocytes, macrophages, or both, as well as exuberant growth of BFU-E colonies. 3486010 1986
Philadelphia chromosome positive chronic myelogenous leukemia
0.100 GeneticVariation disease BEFREE The reported cases of near-haploidy with Ph1-positive CML and those with constitutional translocations with CML have been tabulated and the possible significance of the cytogenetic abnormalities discussed. 6932994 1980