rs121913459, ABL1

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.010 GeneticVariation BEFREE HQP1351, an orally bioavailable multikinase BCR-ABL inhibitor, is currently in clinical trials for the treatment of T315I mutant chronic myelogenous leukemia (CML), but the potential application in imatinib-resistant GISTs carrying secondary KIT mutations has not been explored. 31673329 2019
Central nervous system leukaemia
CUI: C1332884
Disease: Central nervous system leukaemia
0.010 GeneticVariation BEFREE Ponatinib therapy in recurrent philadelphia chromosome positive central nervous system leukemia with T315I mutation after allo-HSCT. 31785158 2019
Graft-vs-Host Disease
CUI: C0018133
Disease: Graft-vs-Host Disease
0.010 GeneticVariation BEFREE Ponatinib-Induced Graft-versus-Host Disease/Graft-versus-Leukemia Effect in a Patient with Philadelphia-Positive Acute Lymphoblastic Leukemia without the T315I Mutation Relapsing after Allogeneic Transplant. 28810255 2017
Refractory Chronic Myelogenous Leukemia, BCR-ABL1 Positive
0.010 GeneticVariation BEFREE The third-generation tyrosine kinase inhibitor (TKI) ponatinib shows activity against all common BCR-ABL1 single mutants, including the highly resistant BCR-ABL1-T315I mutant, improving outcome for patients with refractory chronic myeloid leukemia (CML). 26773037 2016
Philadelphia chromosome positive chronic myelogenous leukemia
0.010 GeneticVariation BEFREE Leukemia cells escape BCR-ABL-targeted therapy by developing mutations, such as T315I, in the p210(BCR-ABL) fusion protein in Philadelphia chromosome-positive chronic myeloid leukemia (CML). 26846820 2016
Chronic eosinophilic leukemia
CUI: C0346421
Disease: Chronic eosinophilic leukemia
0.010 GeneticVariation BEFREE Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL. 25431951 2014
Idiopathic Hypereosinophilic Syndrome
0.010 GeneticVariation BEFREE Resistance to imatinib in HES/CEL has been described mainly due to the T674I mutation in FIP1L1-PDGFRα, which is homologous to the imatinib-resistant T315I mutation in BCR-ABL. 25431951 2014
Philadelphia positive acute lymphocytic leukaemia
0.010 GeneticVariation BEFREE Pharmacokinetics of dasatinib for Philadelphia-positive acute lymphocytic leukemia with acquired T315I mutation. 22587422 2012
Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive
0.010 GeneticVariation BEFREE In chronic myelogenous leukemia (CML)--chronic phase (CP), 5 had P-loop mutations and 3 had T315I mutations. 21239056 2011
Leukemogenesis
CUI: C0598766
Disease: Leukemogenesis
0.010 GeneticVariation BEFREE Furthermore, pharmacologic doses of FTY720 remarkably suppress in vivo p210/p190(BCR/ABL)-driven [including p210/p190(BCR/ABL)(T315I)] leukemogenesis without exerting any toxicity. 17717597 2007
Refractory cancer
CUI: C0677936
Disease: Refractory cancer
0.010 GeneticVariation BEFREE However, our study indicates that clinical resistance to nilotinib may be associated with the predominant emergence of T315I. 16614241 2006
Precursor B-cell lymphoblastic leukemia
0.020 GeneticVariation BEFREE Purinostat mesylate efficiently attenuated Ph<sup>+</sup> B-ALL progression and significantly prolonged the survival both in BL-2 secondary transplantation model with clinical patient symptoms of Ph<sup>+</sup> B-ALL, <i>BCR-ABL(T315I)</i>-induced primary B-ALL mouse model, and PDX model derived from patients with relapsed Ph<sup>+</sup> B-ALL post TKI treatment. 31439580 2019
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.020 GeneticVariation BEFREE The BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for Philadelphia-positive acute lymphoid leukemia (Ph + ALL) patients. 22587422 2012
Childhood Acute Lymphoblastic Leukemia
0.020 GeneticVariation BEFREE This cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of BCR-ABL-positive ALL with T315I mutation. 20471447 2010
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE This cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of BCR-ABL-positive ALL with T315I mutation. 20471447 2010
Precursor B-cell lymphoblastic leukemia
0.020 GeneticVariation BEFREE Using BCR-ABL-expressing myelogenous and lymphoid cell lines and mouse models of CML and B-cell acute lymphoblastic leukemia (B-ALL) induced by wild-type BCR-ABL or T315I mutant-BCR-ABL, we evaluated the inhibitory effects of omacetaxine on CML and B-ALL. 19322212 2009
Childhood Acute Lymphoblastic Leukemia
0.020 GeneticVariation BEFREE The objectives of this retrospective observational study were to estimate overall and progression-free survival for chronic myeloid leukemia in chronic-phase (CP), accelerated-phase (AP), or blastic-phase (BP) and Philadelphia chromosome-positive (Ph)(+) acute lymphoblastic leukemia (ALL) patients with T315I mutation. 19843886 2009
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.020 GeneticVariation BEFREE The objectives of this retrospective observational study were to estimate overall and progression-free survival for chronic myeloid leukemia in chronic-phase (CP), accelerated-phase (AP), or blastic-phase (BP) and Philadelphia chromosome-positive (Ph)(+) acute lymphoblastic leukemia (ALL) patients with T315I mutation. 19843886 2009
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.020 GeneticVariation BEFREE MK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymphocytic leukemia with the T315I BCR-ABL mutation. 16990603 2007
Leukemia, Myeloid, Chronic-Phase
CUI: C0023474
Disease: Leukemia, Myeloid, Chronic-Phase
0.030 GeneticVariation BEFREE These results confirm early assumptions concerning the poor prognosis of chronic phase chronic myelogenous leukemia patients with the T315I mutation who are not eligible for allogeneic transplantation, and demonstrate the need for more therapeutic options. 23716543 2013
Leukemia, Myeloid, Chronic-Phase
CUI: C0023474
Disease: Leukemia, Myeloid, Chronic-Phase
0.030 GeneticVariation BEFREE Phase 2 study of subcutaneous omacetaxine mepesuccinate after TKI failure in patients with chronic-phase CML with T315I mutation. 22896000 2012
Leukemia, Myeloid, Chronic-Phase
CUI: C0023474
Disease: Leukemia, Myeloid, Chronic-Phase
0.030 GeneticVariation BEFREE The durable clearance of the T315I BCR-ABL mutated clone in chronic phase chronic myelogenous leukemia patients on omacetaxine allows tyrosine kinase inhibitor rechallenge. 21030353 2010
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.050 GeneticVariation BEFREE It suppressed primary Ph+ acute lymphatic leukemia-derived long-term cultures that either displayed nonmutational resistance or harbor the T315I. 25394714 2015
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.050 GeneticVariation BEFREE The BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for Philadelphia-positive acute lymphoid leukemia (Ph + ALL) patients. 22587422 2012
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.050 GeneticVariation BEFREE This cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of BCR-ABL-positive ALL with T315I mutation. 20471447 2010