chr9:133588430:> Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,588,430-133,763,062
hg38 chr9:130,713,043-130,887,675 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic myeloid leukemia Dasatinib B Predictive Does Not Support Resistance Somatic 3 19779040 Detail
chronic myeloid leukemia Bosutinib B Predictive Does Not Support Resistance Somatic 3 21865346 Detail
chronic myeloid leukemia Nilotinib B Predictive Does Not Support Resistance Somatic 3 19652056 Detail
chronic myeloid leukemia Bosutinib B Predictive Does Not Support Resistance Somatic 3 22371878 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cardiovascular Diseases The second-generation tyrosine kinase inhibitor (TKI) of the BCR-ABL1 oncoprotei... BeFree 24797802 Detail
<0.001 cerebral palsy NA BeFree Detail
0.007 Congenital chromosomal disease NA BeFree Detail
<0.001 colorectal carcinoma NA BeFree Detail
0.003 Colorectal Neoplasms NA LHGDN Detail
0.003 Cessation of life NA LHGDN Detail
<0.001 diphtheria NA BeFree Detail
<0.001 Down syndrome NA BeFree Detail
0.004 Eosinophilia To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree,LHGDN 24813417 Detail
<0.001 epidermodysplasia verruciformis NA BeFree Detail
0.120 Esophageal Neoplasms NA BeFree,CTD_human Detail
<0.001 Disorder of eye NA BeFree Detail
<0.001 Fanconi anemia NA BeFree Detail
<0.001 gastritis NA BeFree Detail
<0.001 glioblastoma NA BeFree Detail
<0.001 Glioma NA BeFree Detail
<0.001 Graft-vs-Host Disease NA BeFree Detail
<0.001 Graves Disease NA BeFree Detail
0.009 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.008 Thrombocythemia, Essential In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.002 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.001 Hematological Disease NA BeFree Detail
<0.001 Herpes Simplex Infections NA BeFree Detail
0.003 HIV Infections NA BeFree,GAD Detail
0.001 Immunologic Deficiency Syndromes Transferred BCR/ABL DNA from K562 extracellular vesicles causes chronic myeloid ... BeFree 25133686 Detail
<0.001 influenza Nonstructural protein 1 (NS1) proteins from avian influenza viruses like the 191... BeFree 25367299 Detail
<0.001 Kidney Failure, Acute NA BeFree Detail
0.001 chronic lymphocytic leukemia None of the three malignancies shared the same origin, since the marrow sample w... BeFree 25648037 Detail
<0.001 Acute Erythroblastic Leukemia NA BeFree Detail
0.005 lymphoid leukemia High levels of SOCS2 characterize unfavorable subsets of acute myeloid and lymph... BeFree 25858143 Detail
0.064 Acute lymphocytic leukemia The diagnosis of 'Philadelphia like' poor prognosis ALLs is technically challeng... BeFree 24848770 Detail
0.064 Acute lymphocytic leukemia We describe an ultrasensitive electrochemical nucleic acid assay amplified by ca... BeFree 24961450 Detail
0.064 Acute lymphocytic leukemia The Sox4/Tcf7l1 axis promotes progression of BCR-ABL-positive acute lymphoblasti... BeFree 24997151 Detail
0.064 Acute lymphocytic leukemia IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukem... BeFree 25261097 Detail
0.064 Acute lymphocytic leukemia Tyrosine kinase inhibitors (TKIs) have demonstrated success in the treatment of ... BeFree 25415187 Detail
0.064 Acute lymphocytic leukemia Clinical significance of BCR-ABL fusion gene subtypes in chronic myelogenous and... BeFree 25520136 Detail
0.064 Acute lymphocytic leukemia The depletion of IGF-IR expression in BCR/ABL(+) cells led to the development of... BeFree 25648584 Detail
0.064 Acute lymphocytic leukemia The BCR-ABL1 fusion gene is a driver oncogene in chronic myeloid leukaemia and 3... BeFree 25686603 Detail
0.064 Acute lymphocytic leukemia In ∼25% of cases, acute lymphoblastic leukaemia (ALL) cells carry the oncogenic ... BeFree 25799995 Detail
0.064 Acute lymphocytic leukemia High levels of SOCS2 characterize unfavorable subsets of acute myeloid and lymph... BeFree 25858143 Detail
0.064 Acute lymphocytic leukemia Emerging BCR/ABL1 Mutations Under Treatment with Tyrosine Kinase Inhibitors in P... BeFree 25895602 Detail
0.064 Acute lymphocytic leukemia Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia. BeFree 26321221 Detail
0.005 Leukemia, Lymphocytic, Acute, L1 We analyzed cells from peripheral blood and CD34-/CD34+ cells from bone marrow o... BeFree 25244981 Detail
<0.001 acute biphenotypic leukemia NA BeFree Detail
0.023 Leukemia, Myelocytic, Acute This case describes a patient with an acute myelogenous leukemia presenting init... BeFree,LHGDN 23538898 Detail
0.023 Leukemia, Myelocytic, Acute Dominant-negative Ikaros cooperates with BCR-ABL1 to induce human acute myeloid ... BeFree,LHGDN 24791856 Detail
0.023 Leukemia, Myelocytic, Acute BCR-ABL1(+) acute myeloid leukemia: clonal selection of a BCR-ABL1(-) subclone a... BeFree,LHGDN 25401297 Detail
0.023 Leukemia, Myelocytic, Acute Although tyrosine kinase inhibitors (TKI) can be effective therapies for leukemi... BeFree,LHGDN 25547679 Detail
0.023 Leukemia, Myelocytic, Acute None of the three malignancies shared the same origin, since the marrow sample w... BeFree,LHGDN 25648037 Detail
0.013 myeloid leukemia The malignancy suppression role of miR-23a by targeting the BCR/ABL oncogene in ... BeFree,GAD,LHGDN 25213664 Detail
<0.001 Leukemia, Myeloid, Accelerated Phase NA BeFree Detail
0.010 Leukemia, Myeloid, Chronic-Phase Here, we studied whether amplicon next-generation deep sequencing (NGS) could im... BeFree 25367136 Detail
0.010 Leukemia, Myeloid, Chronic-Phase After imatinib (IM) treatment, patients with m-bcr showed higher BCR-ABL relativ... BeFree 25520136 Detail
0.010 Leukemia, Myeloid, Chronic-Phase Shorter halving time of BCR-ABL1 transcripts is a novel predictor for achievemen... BeFree 25530131 Detail
0.002 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
0.001 chronic neutrophilic leukemia Chronic neutrophilic leukemia (CNL) is a rare BCR-ABL1-negative myeloid malignan... BeFree 25575036 Detail
0.002 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
<0.001 Leukoencephalopathy, Progressive Multifocal NA BeFree Detail
0.120 Liver neoplasms NA CTD_human Detail
0.005 Lung Neoplasms NA LHGDN Detail
0.002 lymphoma NA BeFree Detail
<0.001 Lymphoma, Follicular NA BeFree Detail
<0.001 Lymphoproliferative Disorders NA BeFree Detail
0.080 Memory Disorders NA RGD Detail
0.002 Monosomy One patient had a complex karyotype including 7 monosomy (-7) and p190 BCR-ABL f... BeFree 25300567 Detail
0.001 multiple myeloma NA BeFree Detail
0.003 Muscle hypotonia NA LHGDN Detail
0.002 myelofibrosis Is there a role for JAK inhibitors in BCR-ABL1-negative myeloproliferative neopl... BeFree 25520049 Detail
0.017 Myeloproliferative disease To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
0.017 Myeloproliferative disease The discovery of somatic mutations, primarily JAK2V617F and CALR, in classic BCR... BeFree 25151955 Detail
0.017 Myeloproliferative disease Increased mean platelet volume and immature platelet fraction as potential predi... BeFree 25227185 Detail
0.017 Myeloproliferative disease The diagnosis of the BCR-ABL-negative myeloproliferative neoplasms (MPN), namely... BeFree 25349114 Detail
0.017 Myeloproliferative disease Current data suggest that constitutively active JAK-STAT signaling plays a centr... BeFree 25520049 Detail
0.017 Myeloproliferative disease Discrepancies between bone marrow histopathology and clinical phenotype in BCR-A... BeFree 25840747 Detail
0.017 Myeloproliferative disease RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) over... BeFree 25899435 Detail
0.017 Myeloproliferative disease Chronic myeloid leukemia (CML), a myeloproliferative disorder characterized by t... BeFree 25964959 Detail
0.017 Myeloproliferative disease Identification of BCR-ABL1 tyrosine kinase as a driver of chronic myeloid leukem... BeFree 26062813 Detail
0.017 Myeloproliferative disease The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR ex... BeFree 26071474 Detail
0.017 Myeloproliferative disease CML is a myeloproliferative disorder that results from dysregulated tyrosine kin... BeFree 26331539 Detail
<0.001 nail-patella syndrome NA BeFree Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
0.120 Neoplasms, Experimental NA CTD_human Detail
0.002 nephroblastoma NA BeFree Detail
<0.001 obesity NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
<0.001 pancytopenia NA BeFree Detail
0.080 Parkinson disease NA RGD Detail
<0.001 plasmacytoma NA BeFree Detail
0.003 polycythemia NA LHGDN Detail
0.009 polycythemia vera NA BeFree,LHGDN Detail
0.120 Precancerous Conditions NA BeFree,CTD_human Detail
0.002 Preleukemia NA BeFree Detail
<0.001 pulmonary alveolar proteinosis NA BeFree Detail
<0.001 retinoblastoma NA BeFree Detail
<0.001 Retroviridae Infections NA BeFree Detail
<0.001 rubella NA BeFree Detail
<0.001 localized scleroderma NA BeFree Detail
<0.001 systemic scleroderma NA BeFree Detail
<0.001 Sezary syndrome NA BeFree Detail
0.008 Thrombocythemia, Essential NA BeFree,LHGDN Detail
<0.001 thymoma NA BeFree Detail
<0.001 Trisomy NA BeFree Detail
<0.001 tuberous sclerosis NA BeFree Detail
0.080 ureteral obstruction NA RGD Detail
<0.001 Virus Diseases NA BeFree Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
<0.001 Sweet syndrome This case describes a patient with an acute myelogenous leukemia presenting init... BeFree 23538898 Detail
0.002 severe combined immunodeficiency These findings were also observed in immunodeficient NOD/SCID mice treated with ... BeFree 25133686 Detail
0.007 acute leukemia NA BeFree Detail
<0.001 Monocytosis NA BeFree Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 esophageal carcinoma NA BeFree Detail
<0.001 Granulocytic Sarcoma We report a humanized experimental leukemia model where xenografts develop aggre... BeFree 24791856 Detail
<0.001 Tumor Progression NA BeFree Detail
0.002 Gastrointestinal Stromal Tumors NA BeFree Detail
<0.001 Anaplastic thyroid carcinoma NA BeFree Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Parkinsonian Disorders NA BeFree Detail
0.017 Neoplasm, Residual The Abelson (ABL) gene was the best control gene for quantitative PCR (qPCR)-bas... BeFree 23990051 Detail
0.017 Neoplasm, Residual Despite major advances in the treatment of this highly aggressive disease with p... BeFree 25499760 Detail
0.017 Neoplasm, Residual In chronic myeloid leukemia, the identification of individual BCR-ABL1 fusions i... BeFree 25928096 Detail
<0.001 Mucosa-Associated Lymphoid Tissue Lymphoma NA BeFree Detail
<0.001 Acute respiratory failure NA BeFree Detail
<0.001 Spastic syndrome NA BeFree Detail
<0.001 Carcinoma breast stage IV NA BeFree Detail
<0.001 recurrent childhood acute lymphoblastic leukemia NA BeFree Detail
<0.001 relapsing chronic myelogenous leukemia NA BeFree Detail
0.007 Philadelphia chromosome positive chronic myelogenous leukemia NA BeFree Detail
0.002 Philadelphia chromosome negative chronic myelogenous leukemia NA BeFree Detail
<0.001 T-cell childhood acute lymphoblastic leukemia NA BeFree Detail
<0.001 T-cell adult acute lymphoblastic leukemia NA BeFree Detail
<0.001 B-cell adult acute lymphoblastic leukemia NA BeFree Detail
<0.001 Adenocarcinoma Of Esophagus NA BeFree Detail
0.002 Solid tumour Recently, ABL has also been implicated in the transforming properties of solid t... BeFree 25803821 Detail
<0.001 Acute Undifferentiated Leukemia NA BeFree Detail
<0.001 stage, chronic myelogenous leukemia NA BeFree Detail
<0.001 secondary acute myeloid leukemia NA BeFree Detail
<0.001 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse NA BeFree Detail
0.001 Pre B-cell acute lymphoblastic leukemia NA BeFree Detail
0.001 juvenile myelomonocytic leukemia NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
0.002 Hematopoietic Neoplasms BCR-ABL1(+) precursor B-cell acute lymphoblastic leukemia (BCR-ABL1(+) B-ALL) is... BeFree 25775523 Detail
0.004 Hematologic Neoplasms Among these, a very rare fusion transcript joining the first 6 exons of BCR to e... BeFree 26149409 Detail
<0.001 Symmetrical dyschromatosis of extremities NA BeFree Detail
<0.001 Chromosome 9, trisomy NA BeFree Detail
0.001 Chromosome 8, trisomy NA BeFree Detail
<0.001 Enteropathy-Associated T-Cell Lymphoma NA BeFree Detail
<0.001 Neurodegenerative Disorders NA BeFree Detail
<0.001 Malignant neoplasm of esophagus NA BeFree Detail
<0.001 Thyroid carcinoma NA BeFree Detail
0.122 Carcinogenesis NA BeFree,CTD_human Detail
0.012 Leukemogenesis Taken together, our results suggest that Grb10 knockdown in vivo leads to impair... BeFree 25249015 Detail
<0.001 Lymphoid neoplasm Here we present methods to study BCR/ABL-triggered leukemia and solid lymphoid t... BeFree 25636473 Detail
<0.001 prostate carcinoma NA BeFree Detail
0.008 Thrombocythemia, Essential Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.371 Myeloid Leukemia, Chronic Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.017 Myeloproliferative disease An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-neg... BeFree 16225651 Detail
0.009 polycythemia vera In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
0.371 Myeloid Leukemia, Chronic the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F... BeFree 17285276 Detail
0.009 polycythemia vera The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in dive... BeFree 19167611 Detail
<0.001 Epithelial ovarian cancer NA BeFree Detail
0.009 polycythemia vera Reliable detection of the JAK2 V617F mutation is a major criterion in the diagno... BeFree 20560681 Detail
<0.001 Progressive Neoplastic Disease NA BeFree Detail
0.017 Myeloproliferative disease Discovery of a constitutively activating point mutation of the Janus kinase 2 (J... BeFree 17194663 Detail
0.004 Refractory cancer Point mutations in the ABL1 kinase domain weaken inhibitor binding and represent... BeFree 25686603 Detail
0.017 Myeloproliferative disease A JAK2(V617F) mutation is frequently found in several BCR/ABL-negative myeloprol... BeFree 16670266 Detail
0.009 polycythemia vera Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregn... BeFree 20499211 Detail
0.017 Myeloproliferative disease Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative ... BeFree 19466975 Detail
0.006 Primary myelofibrosis the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F... BeFree 17285276 Detail
0.002 breast carcinoma In conclusion, the observation that TN breast cancer cell lines respond differen... BeFree 25803821 Detail
0.033 Blast Phase Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor ce... BeFree 16442619 Detail
0.017 Myeloproliferative disease Because JAK2 V617F is specific for myeloid neoplasms, and because it can be dete... BeFree 18575049 Detail
0.002 thrombocytosis Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses... BeFree 17285276 Detail
0.371 Myeloid Leukemia, Chronic Abnormalities of tyrosine kinase proteins are well recognised in myeloid maligna... BeFree 21722956 Detail
0.006 Primary myelofibrosis Reliable detection of the JAK2 V617F mutation is a major criterion in the diagno... BeFree 20560681 Detail
0.006 Primary myelofibrosis The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV)... BeFree 18769448 Detail
0.006 Primary myelofibrosis Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential t... BeFree 24475114 Detail
<0.001 Carcinoma of lung NA BeFree Detail
0.014 Chronic myeloproliferative disorder Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative ... BeFree 19466975 Detail
0.014 Chronic myeloproliferative disorder The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in dive... BeFree 19167611 Detail
0.009 polycythemia vera Discovery of a constitutively activating point mutation of the Janus kinase 2 (J... BeFree 17194663 Detail
<0.001 Malignant neoplasm of kidney Taken together, our findings demonstrate an unexpected opportunity to repurpose ... BeFree 25686603 Detail
0.007 adult acute lymphocytic leukemia Telomerase activity was significantly lower in Philadelphia chromosome-negative/... BeFree 25675863 Detail
0.002 thrombocytosis NA BeFree Detail
<0.001 Leukemia secondary NA BeFree Detail
<0.001 Leukaemia recurrent NA BeFree Detail
0.003 Malignant neoplasm of ovary NA BeFree,GAD Detail
<0.001 sarcoma NA BeFree Detail
<0.001 Chronic leukemia (category) NA BeFree Detail
<0.001 Granulocytosis NA BeFree Detail
<0.001 Precursor T-cell lymphoblastic lymphoma NA BeFree Detail
0.011 Precursor B-cell lymphoblastic leukemia Expression of CD25 is a specific and relatively sensitive marker for the Philade... BeFree 25337274 Detail
0.011 Precursor B-cell lymphoblastic leukemia BCR-ABL1(+) precursor B-cell acute lymphoblastic leukemia (BCR-ABL1(+) B-ALL) is... BeFree 25775523 Detail
<0.001 Chronic myelogenous leukemia, BCR/ABL positive NA BeFree Detail
0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative NA BeFree Detail
0.014 Chronic myeloproliferative disorder To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
0.014 Chronic myeloproliferative disorder The discovery of somatic mutations, primarily JAK2V617F and CALR, in classic BCR... BeFree 25151955 Detail
0.014 Chronic myeloproliferative disorder Increased mean platelet volume and immature platelet fraction as potential predi... BeFree 25227185 Detail
0.014 Chronic myeloproliferative disorder The diagnosis of the BCR-ABL-negative myeloproliferative neoplasms (MPN), namely... BeFree 25349114 Detail
0.014 Chronic myeloproliferative disorder Current data suggest that constitutively active JAK-STAT signaling plays a centr... BeFree 25520049 Detail
0.014 Chronic myeloproliferative disorder Discrepancies between bone marrow histopathology and clinical phenotype in BCR-A... BeFree 25840747 Detail
0.014 Chronic myeloproliferative disorder RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) over... BeFree 25899435 Detail
0.014 Chronic myeloproliferative disorder Chronic myeloid leukemia (CML), a myeloproliferative disorder characterized by t... BeFree 25964959 Detail
0.014 Chronic myeloproliferative disorder Identification of BCR-ABL1 tyrosine kinase as a driver of chronic myeloid leukem... BeFree 26062813 Detail
0.014 Chronic myeloproliferative disorder The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR ex... BeFree 26071474 Detail
0.014 Chronic myeloproliferative disorder CML is a myeloproliferative disorder that results from dysregulated tyrosine kin... BeFree 26331539 Detail
<0.001 Myelodysplastic-Myeloproliferative Diseases NA BeFree Detail
<0.001 Eosinophilic disorder To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
<0.001 childhood chronic myelogenous leukemia NA BeFree Detail
<0.001 Thymic Lymphoma NA BeFree Detail
<0.001 refractory CML NA BeFree Detail
<0.001 renal carcinoma Taken together, our findings demonstrate an unexpected opportunity to repurpose ... BeFree 25686603 Detail
0.123 Mammary Neoplasms NA BeFree,CTD_human,LHGDN Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Disorder characterized by eosinophilia To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
0.002 B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 NA BeFree Detail
<0.001 OUABAIN RESISTANCE NA BeFree Detail
0.005 MULTICYSTIC RENAL DYSPLASIA, BILATERAL NA BeFree Detail
0.001 campomelic dysplasia NA BeFree Detail
<0.001 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 NA BeFree Detail
0.006 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma The depletion of IGF-IR expression in BCR/ABL(+) cells led to the development of... BeFree 25648584 Detail
0.184 Precursor Cell Lymphoblastic Leukemia Lymphoma The diagnosis of 'Philadelphia like' poor prognosis ALLs is technically challeng... BeFree,CTD_human,LHGDN 24848770 Detail
0.184 Precursor Cell Lymphoblastic Leukemia Lymphoma The Sox4/Tcf7l1 axis promotes progression of BCR-ABL-positive acute lymphoblasti... BeFree,CTD_human,LHGDN 24997151 Detail
0.184 Precursor Cell Lymphoblastic Leukemia Lymphoma IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukem... BeFree,CTD_human,LHGDN 25261097 Detail
0.184 Precursor Cell Lymphoblastic Leukemia Lymphoma Tyrosine kinase inhibitors (TKIs) have demonstrated success in the treatment of ... BeFree,CTD_human,LHGDN 25415187 Detail
0.184 Precursor Cell Lymphoblastic Leukemia Lymphoma Clinical significance of BCR-ABL fusion gene subtypes in chronic myelogenous and... BeFree,CTD_human,LHGDN 25520136 Detail
0.184 Precursor Cell Lymphoblastic Leukemia Lymphoma The depletion of IGF-IR expression in BCR/ABL(+) cells led to the development of... BeFree,CTD_human,LHGDN 25648584 Detail
0.184 Precursor Cell Lymphoblastic Leukemia Lymphoma High levels of SOCS2 characterize unfavorable subsets of acute myeloid and lymph... BeFree,CTD_human,LHGDN 25858143 Detail
0.184 Precursor Cell Lymphoblastic Leukemia Lymphoma Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia. BeFree,CTD_human,LHGDN 26321221 Detail
0.001 Leukemia, B-Cell NA BeFree Detail
<0.001 T-cell prolymphocytic leukemia NA BeFree Detail
<0.001 Promyelocytic leukemia NA BeFree Detail
<0.001 Mixed phenotype acute leukemia NA BeFree Detail
<0.001 myeloid neoplasm To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
0.002 myelodysplastic syndrome NA BeFree Detail
<0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
<0.001 Progressive cGVHD NA BeFree Detail
<0.001 Triple Negative Breast Neoplasms ABL tyrosine kinase inhibition variable effects on the invasive properties of di... BeFree 25803821 Detail
0.008 Infection NA LHGDN Detail
0.120 Leukemia, acute lymphoblastic, susceptibility to, 3 NA ORPHANET Detail
0.120 adenocarcinoma NA CTD_human Detail
0.006 Primary myelofibrosis The diagnosis of the BCR-ABL-negative myeloproliferative neoplasms (MPN), namely... BeFree 25349114 Detail
0.006 Primary myelofibrosis Is there a role for JAK inhibitors in BCR-ABL1-negative myeloproliferative neopl... BeFree 25520049 Detail
0.002 Alcoholic Intoxication, Chronic NA GAD Detail
0.005 Alzheimer's disease NA GAD,LHGDN Detail
<0.001 anemia NA BeFree Detail
0.003 Bacterial Infections NA BeFree,LHGDN Detail
0.007 Malignant neoplasm of breast In conclusion, the observation that TN breast cancer cell lines respond differen... BeFree,GAD 25803821 Detail
<0.001 Burkitt lymphoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myel... CIViC Evidence Detail
In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... CIViC Evidence Detail
In this open-label, phase II registration trial, patients that were imatinib resistant (n = 192) or ... CIViC Evidence Detail
This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretr... CIViC Evidence Detail
The second-generation tyrosine kinase inhibitor (TKI) of the BCR-ABL1 oncoprotein nilotinib used in ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Transferred BCR/ABL DNA from K562 extracellular vesicles causes chronic myeloid leukemia in immunode... DisGeNET Detail
Nonstructural protein 1 (NS1) proteins from avian influenza viruses like the 1918 pandemic NS1 are c... DisGeNET Detail
NA DisGeNET Detail
None of the three malignancies shared the same origin, since the marrow sample was negative for BCR-... DisGeNET Detail
NA DisGeNET Detail
High levels of SOCS2 characterize unfavorable subsets of acute myeloid and lymphoblastic leukemias, ... DisGeNET Detail
The diagnosis of 'Philadelphia like' poor prognosis ALLs is technically challenging but of paramount... DisGeNET Detail
We describe an ultrasensitive electrochemical nucleic acid assay amplified by carbon nanotubes (CNTs... DisGeNET Detail
The Sox4/Tcf7l1 axis promotes progression of BCR-ABL-positive acute lymphoblastic leukemia. DisGeNET Detail
IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukemia (P=0.036), BCR-AB... DisGeNET Detail
Tyrosine kinase inhibitors (TKIs) have demonstrated success in the treatment of acute lymphoblastic ... DisGeNET Detail
Clinical significance of BCR-ABL fusion gene subtypes in chronic myelogenous and acute lymphoblastic... DisGeNET Detail
The depletion of IGF-IR expression in BCR/ABL(+) cells led to the development of ALL (mostly T cell ... DisGeNET Detail
The BCR-ABL1 fusion gene is a driver oncogene in chronic myeloid leukaemia and 30-50% of cases of ad... DisGeNET Detail
In ∼25% of cases, acute lymphoblastic leukaemia (ALL) cells carry the oncogenic BCR-ABL1 tyrosine ki... DisGeNET Detail
High levels of SOCS2 characterize unfavorable subsets of acute myeloid and lymphoblastic leukemias, ... DisGeNET Detail
Emerging BCR/ABL1 Mutations Under Treatment with Tyrosine Kinase Inhibitors in Paediatric Acute Lymp... DisGeNET Detail
Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia. DisGeNET Detail
We analyzed cells from peripheral blood and CD34-/CD34+ cells from bone marrow of pediatric acute ly... DisGeNET Detail
NA DisGeNET Detail
This case describes a patient with an acute myelogenous leukemia presenting initially with heralding... DisGeNET Detail
Dominant-negative Ikaros cooperates with BCR-ABL1 to induce human acute myeloid leukemia in xenograf... DisGeNET Detail
BCR-ABL1(+) acute myeloid leukemia: clonal selection of a BCR-ABL1(-) subclone as a cause of refract... DisGeNET Detail
Although tyrosine kinase inhibitors (TKI) can be effective therapies for leukemia, they fail to full... DisGeNET Detail
None of the three malignancies shared the same origin, since the marrow sample was negative for BCR-... DisGeNET Detail
The malignancy suppression role of miR-23a by targeting the BCR/ABL oncogene in chromic myeloid leuk... DisGeNET Detail
NA DisGeNET Detail
Here, we studied whether amplicon next-generation deep sequencing (NGS) could improve the detection ... DisGeNET Detail
After imatinib (IM) treatment, patients with m-bcr showed higher BCR-ABL relative concentrations in ... DisGeNET Detail
Shorter halving time of BCR-ABL1 transcripts is a novel predictor for achievement of molecular respo... DisGeNET Detail
NA DisGeNET Detail
Chronic neutrophilic leukemia (CNL) is a rare BCR-ABL1-negative myeloid malignancy that is character... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
One patient had a complex karyotype including 7 monosomy (-7) and p190 BCR-ABL fusion transcript. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Is there a role for JAK inhibitors in BCR-ABL1-negative myeloproliferative neoplasms other than myel... DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
The discovery of somatic mutations, primarily JAK2V617F and CALR, in classic BCR-ABL1-negative myelo... DisGeNET Detail
Increased mean platelet volume and immature platelet fraction as potential predictors of thrombotic ... DisGeNET Detail
The diagnosis of the BCR-ABL-negative myeloproliferative neoplasms (MPN), namely polycythemia vera, ... DisGeNET Detail
Current data suggest that constitutively active JAK-STAT signaling plays a central role in the patho... DisGeNET Detail
Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myelopr... DisGeNET Detail
RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) overlap syndromes, with ... DisGeNET Detail
Chronic myeloid leukemia (CML), a myeloproliferative disorder characterized by the BCR-ABL oncoprote... DisGeNET Detail
Identification of BCR-ABL1 tyrosine kinase as a driver of chronic myeloid leukemia (CML) and success... DisGeNET Detail
The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 help improve th... DisGeNET Detail
CML is a myeloproliferative disorder that results from dysregulated tyrosine kinase activity of the ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This case describes a patient with an acute myelogenous leukemia presenting initially with heralding... DisGeNET Detail
These findings were also observed in immunodeficient NOD/SCID mice treated with K562 EVs; BCR/ABL mR... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We report a humanized experimental leukemia model where xenografts develop aggressive acute myeloid ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The Abelson (ABL) gene was the best control gene for quantitative PCR (qPCR)-based diagnosis and min... DisGeNET Detail
Despite major advances in the treatment of this highly aggressive disease with potent inhibitors of ... DisGeNET Detail
In chronic myeloid leukemia, the identification of individual BCR-ABL1 fusions is required for the d... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Recently, ABL has also been implicated in the transforming properties of solid tumors, including tri... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
BCR-ABL1(+) precursor B-cell acute lymphoblastic leukemia (BCR-ABL1(+) B-ALL) is an aggressive hemat... DisGeNET Detail
Among these, a very rare fusion transcript joining the first 6 exons of BCR to exon 2 of ABL1 (e6a2)... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Taken together, our results suggest that Grb10 knockdown in vivo leads to impaired proliferation, lo... DisGeNET Detail
Here we present methods to study BCR/ABL-triggered leukemia and solid lymphoid tumor formation. DisGeNET Detail
NA DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
An association between an activating JAK2 mutation (JAK2(V617F)) and BCR/ABL-negative myeloprolifera... DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that chara... DisGeNET Detail
The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative... DisGeNET Detail
NA DisGeNET Detail
Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negat... DisGeNET Detail
NA DisGeNET Detail
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associ... DisGeNET Detail
Point mutations in the ABL1 kinase domain weaken inhibitor binding and represent the most common cli... DisGeNET Detail
A JAK2(V617F) mutation is frequently found in several BCR/ABL-negative myeloproliferative disorders. DisGeNET Detail
Concomitant presence of JAK2 V617F mutation and BCR-ABL translocation in a pregnant woman with polyc... DisGeNET Detail
Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patie... DisGeNET Detail
the BCR-ABL fusion characteristic of chronic myeloid leukemia and the JAK2 V617F mutation that chara... DisGeNET Detail
In conclusion, the observation that TN breast cancer cell lines respond differently to ABL inhibitor... DisGeNET Detail
Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor cells from patients wi... DisGeNET Detail
Because JAK2 V617F is specific for myeloid neoplasms, and because it can be detected in peripheral b... DisGeNET Detail
Diagnostic refinement of chronic myeloproliferative disorders and thrombocytoses of unknown origin b... DisGeNET Detail
Abnormalities of tyrosine kinase proteins are well recognised in myeloid malignancies, mutation in t... DisGeNET Detail
Reliable detection of the JAK2 V617F mutation is a major criterion in the diagnosis of BCR/ABL-negat... DisGeNET Detail
The BCR-ABL-negative myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thromboc... DisGeNET Detail
Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, poly... DisGeNET Detail
NA DisGeNET Detail
Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patie... DisGeNET Detail
The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative... DisGeNET Detail
Discovery of a constitutively activating point mutation of the Janus kinase 2 (JAK2) receptor-associ... DisGeNET Detail
Taken together, our findings demonstrate an unexpected opportunity to repurpose axitinib, an anti-an... DisGeNET Detail
Telomerase activity was significantly lower in Philadelphia chromosome-negative/IKAROS-deleted (BCR-... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Expression of CD25 is a specific and relatively sensitive marker for the Philadelphia chromosome (BC... DisGeNET Detail
BCR-ABL1(+) precursor B-cell acute lymphoblastic leukemia (BCR-ABL1(+) B-ALL) is an aggressive hemat... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
The discovery of somatic mutations, primarily JAK2V617F and CALR, in classic BCR-ABL1-negative myelo... DisGeNET Detail
Increased mean platelet volume and immature platelet fraction as potential predictors of thrombotic ... DisGeNET Detail
The diagnosis of the BCR-ABL-negative myeloproliferative neoplasms (MPN), namely polycythemia vera, ... DisGeNET Detail
Current data suggest that constitutively active JAK-STAT signaling plays a central role in the patho... DisGeNET Detail
Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myelopr... DisGeNET Detail
RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) overlap syndromes, with ... DisGeNET Detail
Chronic myeloid leukemia (CML), a myeloproliferative disorder characterized by the BCR-ABL oncoprote... DisGeNET Detail
Identification of BCR-ABL1 tyrosine kinase as a driver of chronic myeloid leukemia (CML) and success... DisGeNET Detail
The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 help improve th... DisGeNET Detail
CML is a myeloproliferative disorder that results from dysregulated tyrosine kinase activity of the ... DisGeNET Detail
NA DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Taken together, our findings demonstrate an unexpected opportunity to repurpose axitinib, an anti-an... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The depletion of IGF-IR expression in BCR/ABL(+) cells led to the development of ALL (mostly T cell ... DisGeNET Detail
The diagnosis of 'Philadelphia like' poor prognosis ALLs is technically challenging but of paramount... DisGeNET Detail
The Sox4/Tcf7l1 axis promotes progression of BCR-ABL-positive acute lymphoblastic leukemia. DisGeNET Detail
IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukemia (P=0.036), BCR-AB... DisGeNET Detail
Tyrosine kinase inhibitors (TKIs) have demonstrated success in the treatment of acute lymphoblastic ... DisGeNET Detail
Clinical significance of BCR-ABL fusion gene subtypes in chronic myelogenous and acute lymphoblastic... DisGeNET Detail
The depletion of IGF-IR expression in BCR/ABL(+) cells led to the development of ALL (mostly T cell ... DisGeNET Detail
High levels of SOCS2 characterize unfavorable subsets of acute myeloid and lymphoblastic leukemias, ... DisGeNET Detail
Efficacy of Retinoids in IKZF1-Mutated BCR-ABL1 Acute Lymphoblastic Leukemia. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
ABL tyrosine kinase inhibition variable effects on the invasive properties of different triple negat... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The diagnosis of the BCR-ABL-negative myeloproliferative neoplasms (MPN), namely polycythemia vera, ... DisGeNET Detail
Is there a role for JAK inhibitors in BCR-ABL1-negative myeloproliferative neoplasms other than myel... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In conclusion, the observation that TN breast cancer cell lines respond differently to ABL inhibitor... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386626619 dbSNP
Genome
hg19
Position
chr9:133,588,430-133,763,062
Variant Type
snv
Variant (CIViC) (CIViC Variant)
TKD MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2371
Genome browser