Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 GeneticVariation disease BEFREE Three ABL (Abelson) kinase inhibitors prevented cell proliferation of HUVEC-TIE2-L914F. 30626204 2019
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE Fifty-two percent were MDD positive by RT-PCR and 37% had more than 10 copies of NPM-ALK per 10<sup>4</sup> copies of ABL (10NCNs) by qPCR. 29030834 2018
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE ABL (ABL1) and ARG (ABL2) are highly homologous to each other in overall domain structure and amino-acid sequence, with the exception of their C termini. 28386107 2017
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 GeneticVariation disease BEFREE Our results demonstrated that ABL SH3 mutant T79Y markedly repressed the expression of BCR-ABL signaling pathways in IM-resistant cell lines KCL22 and K562/G01 as well as IM-sensitive cell line K562. 26321052 2015
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE Using reverse 4',6-diamidino-2-phenylindole banding on metaphase cells, FISH analysis with BCR/ABL dual-fusion and ETV6 break-apart probes showed that a third ABL signal was inserted into 12p, splitting the ETV6 signal into two adjacent signals. 19480935 2009
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE Numbers of NPM-ALK transcripts were normalized to 10(4) copies ABL (NCNs). 17392503 2007
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 AlteredExpression disease BEFREE In vitro treatment of human CML cell lines with imatinib or siRNA directed against BCR-ABL significantly reduced BCR-ABL while increasing CCN3 expression. 16670264 2006
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE All three minor BCR/ABL+ patients showed involvement of both B- and NK-cells, which was infrequent (27%, P = 0.06 and 10%, P = 0.01) among major BCR/ABL+ cases. 16487173 2006
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE The results show that TD-FISH effectively discriminates between cells with overlapping BCR and ABL signals from cells with true BCR/ABL fusion and improves the ability to quantify minimal residual disease from >23% to >1% of 500 interphase nuclei. 14697634 2004
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE Fluorescence in situ hybridization (FISH) analysis using BCR/ABL probes revealed five or more ABL signals, indicating amplification in 51.5% of interphase nuclei. 15282669 2004
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 GeneticVariation disease BEFREE In the present study, we have explored the incidence of both typical and atypical iFISH patterns of BCR/ABL gene rearrangements in a series of 168 consecutive BCR/ABL+ patients--135 CML, 31 precursor B-ALL and two acute myeloblastic leukemia (AML) cases--and established their underlying genetic alterations through further molecular and chromosome analyses. 12764379 2003
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 AlteredExpression disease BEFREE BCR-ABL signals from patient RNA samples were quantified relative to known amounts of K562 RNA and normalised to levels of ABL. 11896544 2002
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE We established two different criteria for BCR-ABL positivity: by criterion A cells were scored as positive when BCR and ABL signals were overlapping or touching and by criterion B cells were positive if they satisfied criterion A or if the signals were separated by up to one signal diameter. 9087564 1997
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 Biomarker disease BEFREE We constructed a long-range restriction map of the tuberous sclerosis (TSC1) region of human chromosome 9q34, extending from ABL (T39-2-2) to D9S114. 7590733 1995
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.100 GeneticVariation disease BEFREE Fluorescence in situ hybridization (FISH) analyses using BCR and ABL probes showed that in 20% of metaphases BCR and ABL signals were present on one chromosome 6 at 6p23, whilst in 80% of metaphases BCR and ABL signals were identified on both copies of chromosome 6. 7596189 1995