rs121913459, ABL1

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
0.700 CausalMutation CLINVAR
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE T315I-mutated Bcr-Abl in chronic myeloid leukemia and imatinib: insights from a computational study. 16093432 2005
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
0.100 GeneticVariation BEFREE T315I mutation in Ph-positive acute lymphoblastic leukemia is associated with a highly aggressive disease phenotype: three case reports. 22593461 2012
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.100 GeneticVariation BEFREE T315I mutation of BCR-ABL1 into human Philadelphia chromosome-positive leukemia cell lines by homologous recombination using the CRISPR/Cas9 system. 29967475 2018
leukemia
CUI: C0023418
Disease: leukemia
0.100 GeneticVariation BEFREE T315I mutation of BCR-ABL1 into human Philadelphia chromosome-positive leukemia cell lines by homologous recombination using the CRISPR/Cas9 system. 29967475 2018
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE A new rapid and sensitive assay for detecting the T315I BCR-ABL kinase domain mutation in chronic myeloid leukaemia. 18587017 2008
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE A phase 2 study of MK-0457 in patients with BCR-ABL T315I mutant chronic myelogenous leukemia and philadelphia chromosome-positive acute lymphoblastic leukemia. 25127392 2014
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
0.100 GeneticVariation BEFREE A phase 2 study of MK-0457 in patients with BCR-ABL T315I mutant chronic myelogenous leukemia and philadelphia chromosome-positive acute lymphoblastic leukemia. 25127392 2014
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE A single-tube allele specific-polymerase chain reaction to detect T315I resistant mutation in chronic myeloid leukemia patients. 21303525 2011
Blast Phase
CUI: C0005699
Disease: Blast Phase
0.070 GeneticVariation BEFREE Adults with Ph+ chronic phase (CP)-, accelerated phase (AP)- or blast phase (BP)-CML, or ALL and documented BCR-ABL T315I mutation were treated with a 5-day continuous infusion of MK-0457 administered every 14 days at 40 mg/m(2)/h, 32 mg/m(2)/h or 24 mg/m(2)/h. 25127392 2014
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE AHI1 gene expression levels and BCR-ABL1 T315I mutations in chronic myeloid leukemia patients. 22183070 2011
leukemia
CUI: C0023418
Disease: leukemia
0.100 GeneticVariation BEFREE Allogeneic stem cell transplantation for patients harboring T315I BCR-ABL mutated leukemias. 21926354 2011
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Allogeneic Stem Cell Transplantation for Patients with T315I BCR-ABL Mutated Chronic Myeloid Leukemia. 26995693 2016
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Allogeneic transplantation remains an important therapeutic option for CML-CP harboring the T315I mutation, patients who fail 2nd generation TKIs, and for all patients in advanced phase disease. 23090888 2012
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Alternative strategies to specifically target T315I-BCR-ABL are needed for the treatment of CML patients harboring such a mutation. 29358661 2018
leukemia
CUI: C0023418
Disease: leukemia
0.100 GeneticVariation BEFREE Although many imatinib-resistant mutations respond well to second-generation TKIs, the threonine-to-isoleucine mutation at codon 315 of the breakpoint cluster region/v-abl Abelson murine leukemia viral oncogene protein fusion Bcr-Abl (T315I) is insensitive to all currently available TKIs. 20564073 2010
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.100 GeneticVariation BEFREE Although many imatinib-resistant mutations respond well to second-generation TKIs, the threonine-to-isoleucine mutation at codon 315 of the breakpoint cluster region/v-abl Abelson murine leukemia viral oncogene protein fusion Bcr-Abl (T315I) is insensitive to all currently available TKIs. 20564073 2010
leukemia
CUI: C0023418
Disease: leukemia
0.100 GeneticVariation BEFREE Although strategies to overcome resistance-mediated T315I mutation may improve the survival of BCR-ABL-positive leukemia patients, there is little information on cell-based studies. 20471447 2010
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.100 GeneticVariation BEFREE Although strategies to overcome resistance-mediated T315I mutation may improve the survival of BCR-ABL-positive leukemia patients, there is little information on cell-based studies. 20471447 2010
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE Although, we continued to monitor bcr-abl transcripts in 14 CML patients (13 chronic phases and 1 accelerated phase) for up to 12 months, there were no patients who were apparently resistant to imatinib due to the T315I mutation. 19343480 2009
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.100 GeneticVariation BEFREE Antitumor Effects of Blocking Protein Neddylation in T315I-BCR-ABL Leukemia Cells and Leukemia Stem Cells. 29321163 2018
leukemia
CUI: C0023418
Disease: leukemia
0.100 GeneticVariation BEFREE Antitumor Effects of Blocking Protein Neddylation in T315I-BCR-ABL Leukemia Cells and Leukemia Stem Cells. 29321163 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.060 GeneticVariation BEFREE AP24534 inhibited all tested BCR-ABL mutants in cellular and biochemical assays, suppressed BCR-ABL(T315I)-driven tumor growth in mice, and completely abrogated resistance in cell-based mutagenesis screens. 19878872 2009
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.800 GeneticVariation BEFREE ARDAP derivative <b>10</b> inhibited the proliferation of BCR/ABL-expressing KU812 and LAMA84 cells from chronic myeloid leukemia (CML) patients in blast crisis and of hematopoietic cells ectopically expressing the imatinib mesylate (IM)-sensitive KBM5-WT or its IM-resistant KBM5-T315I mutation. 28523104 2017
Blast Phase
CUI: C0005699
Disease: Blast Phase
0.070 GeneticVariation BEFREE ARDAP derivative <b>10</b> inhibited the proliferation of BCR/ABL-expressing KU812 and LAMA84 cells from chronic myeloid leukemia (CML) patients in blast crisis and of hematopoietic cells ectopically expressing the imatinib mesylate (IM)-sensitive KBM5-WT or its IM-resistant KBM5-T315I mutation. 28523104 2017