chr22:23522552:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr22:23,522,552-23,660,224
hg38 chr22:23,180,365-23,318,037 

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
[No Data.]
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
0.007 Congenital chromosomal disease Thus, morgana acts as an oncosuppressor with different modalities: (1) Morgana u... BeFree 25678499 Detail
<0.001 colorectal carcinoma NA BeFree Detail
0.003 Colorectal Neoplasms NA BeFree,LHGDN Detail
<0.001 common variable immunodeficiency NA BeFree Detail
<0.001 Diabetic Angiopathies Our results indicate that an MKP-3 pathway might regulate ERK dephosphorylation ... BeFree 25014566 Detail
<0.001 DiGeorge syndrome NA BeFree Detail
0.002 endometriosis NA GAD Detail
<0.001 Eosinophilia To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
<0.001 Eosinophilia We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q... BeFree 26095243 Detail
<0.001 Fanconi anemia NA BeFree Detail
<0.001 Fatty Liver NA BeFree Detail
<0.001 fragile X syndrome NA BeFree Detail
<0.001 glioblastoma NA BeFree Detail
0.004 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.005 Thrombocythemia, Essential 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 Hepatitis, Chronic NA BeFree Detail
<0.001 Hodgkin Disease NA BeFree Detail
<0.001 Inflammatory Bowel Diseases NA BeFree Detail
<0.001 Fibroid Tumor NA BeFree Detail
0.010 chronic lymphocytic leukemia On the basis of somatic hypermutation status of their B-cell antigen receptor (B... BeFree 24917358 Detail
0.010 chronic lymphocytic leukemia None of the three malignancies shared the same origin, since the marrow sample w... BeFree 25648037 Detail
0.010 chronic lymphocytic leukemia Currently, new and highly effective therapeutic agents targeting BCR-mediated in... BeFree 25651976 Detail
<0.001 Acute Erythroblastic Leukemia NA BeFree Detail
<0.001 hairy cell leukemia NA BeFree Detail
0.002 lymphoid leukemia NA BeFree Detail
0.023 Acute lymphocytic leukemia The presence of the Philadelphia chromosome causing the fusion between BCR to AB... BeFree 24848770 Detail
0.023 Acute lymphocytic leukemia IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukem... BeFree 25261097 Detail
0.023 Acute lymphocytic leukemia The BCR-ABL1 fusion gene is a driver oncogene in chronic myeloid leukaemia and 3... BeFree 25686603 Detail
0.002 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
<0.001 Acute Megakaryocytic Leukemias NA BeFree Detail
0.028 Leukemia, Myelocytic, Acute Dominant-negative Ikaros cooperates with BCR-ABL1 to induce human acute myeloid ... BeFree,LHGDN 24791856 Detail
0.028 Leukemia, Myelocytic, Acute BCR-ABL1(+) acute myeloid leukemia: clonal selection of a BCR-ABL1(-) subclone a... BeFree,LHGDN 25401297 Detail
0.028 Leukemia, Myelocytic, Acute The study reveals that MNKI-57 and MNKI-4 are most potent against leukemia cells... BeFree,LHGDN 25527453 Detail
0.004 myeloid leukemia NA BeFree,LHGDN Detail
<0.001 Leukemia, Myeloid, Accelerated Phase NA BeFree Detail
0.396 Myeloid Leukemia, Chronic Patients with chronic myeloid leukemia (CML) can develop disease resistance to t... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24206096 Detail
0.396 Myeloid Leukemia, Chronic Mature dendritic cells (DCs) may be derived from the BCR/ABL1 expressing monocyt... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24617663 Detail
0.396 Myeloid Leukemia, Chronic Radotinib (IY5511HCL), a novel and selective BCR-ABL1 tyrosine kinase inhibitor,... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24705186 Detail
0.396 Myeloid Leukemia, Chronic The second-generation tyrosine kinase inhibitor (TKI) of the BCR-ABL1 oncoprotei... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24797802 Detail
0.396 Myeloid Leukemia, Chronic To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24813417 Detail
0.396 Myeloid Leukemia, Chronic The course of chronic myeloid leukemia (CML) and the response to treatment with ... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24857074 Detail
0.396 Myeloid Leukemia, Chronic CIP2A is overexpressed and involved in the pathogenesis of chronic myelocytic le... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25023053 Detail
0.396 Myeloid Leukemia, Chronic Monitoring BCR-ABL1 expression levels relative to clinically validated response ... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25061833 Detail
0.396 Myeloid Leukemia, Chronic CML (chronic myeloid leukaemia) is characterized by the presence of the oncogeni... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25109962 Detail
0.396 Myeloid Leukemia, Chronic Combined STAT3 and BCR-ABL1 inhibition induces synthetic lethality in therapy-re... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25134459 Detail
0.396 Myeloid Leukemia, Chronic We investigated the impact of the BCR-ABL1 transcript level measured 3 months af... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25170123 Detail
0.396 Myeloid Leukemia, Chronic The dynamics of BCR-ABL1 clearance observed in our study suggest that the use of... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25216683 Detail
0.396 Myeloid Leukemia, Chronic Chronic myeloid leukemia (CML) involves the malignant transformation of hematopo... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25366930 Detail
0.396 Myeloid Leukemia, Chronic A combination of STI571 and BCR-ABL1 siRNA with overexpressed p15INK4B induced e... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25387678 Detail
0.396 Myeloid Leukemia, Chronic Imatinib was the first BCR-ABL1 tyrosine kinase inhibitor (TKI) developed for th... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25410137 Detail
0.396 Myeloid Leukemia, Chronic In this study we took advantage of existing cellular models for chronic myeloid ... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25417721 Detail
0.396 Myeloid Leukemia, Chronic The BCR-ABL1 fusion gene is the molecular marker of chronic myeloid leukemia (CM... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25500442 Detail
0.396 Myeloid Leukemia, Chronic The BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase, is t... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25501026 Detail
0.396 Myeloid Leukemia, Chronic These data implicate RAN in BCR-ABL1 kinase-independent imatinib resistance and ... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25573989 Detail
0.396 Myeloid Leukemia, Chronic Molecular response to imatinib in chronic myeloid leukaemia with a variant e13a3... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25579165 Detail
0.396 Myeloid Leukemia, Chronic The BCR-ABL1 fusion gene is a driver oncogene in chronic myeloid leukaemia and 3... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25686603 Detail
0.396 Myeloid Leukemia, Chronic This focused review highlights critical elements of the underlying biology of CM... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25700679 Detail
0.396 Myeloid Leukemia, Chronic Targeted therapy of chronic myeloid leukemia (CML) is currently based on small-m... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25721898 Detail
0.396 Myeloid Leukemia, Chronic CBF) or BCR-ABL1 fusion and activation of multiple kinases in chronic myeloid le... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25748621 Detail
0.396 Myeloid Leukemia, Chronic The cell biology of CML is also centred on BCR-ABL1. BeFree,CTD_human,GAD,LHGDN,ORPHANET 25814077 Detail
0.396 Myeloid Leukemia, Chronic Serial quantification of BCR-ABL1 messenger RNA (mRNA) is an important therapeut... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25814088 Detail
0.396 Myeloid Leukemia, Chronic Given that the BCR-ABL1 oncogene is a known key cause of CML, it has led to the ... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25840461 Detail
0.396 Myeloid Leukemia, Chronic A thirty-five nucleotides BCR-ABL1 insertion mutation of controversial significa... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25913326 Detail
0.396 Myeloid Leukemia, Chronic Characterization of 46 patient-specific BCR-ABL1 fusions and detection of SNPs u... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25928096 Detail
0.396 Myeloid Leukemia, Chronic Identification of BCR-ABL1 tyrosine kinase as a driver of chronic myeloid leukem... BeFree,CTD_human,GAD,LHGDN,ORPHANET 26062813 Detail
0.396 Myeloid Leukemia, Chronic BCR-ABL1 mutation development during first-line treatment with dasatinib or imat... BeFree,CTD_human,GAD,LHGDN,ORPHANET 26118315 Detail
0.396 Myeloid Leukemia, Chronic More than 95 % of BCR-ABL1 transcripts in CML are either e13a2 or e14a2 (major b... BeFree,CTD_human,GAD,LHGDN,ORPHANET 26149409 Detail
0.396 Myeloid Leukemia, Chronic Comparison of molecular responses based on BCR-ABL1% (IS) results from an in-hou... BeFree,CTD_human,GAD,LHGDN,ORPHANET 26166681 Detail
0.396 Myeloid Leukemia, Chronic Cytogenetic, fluorescence in situ hybridization, and genomic array characterizat... BeFree,CTD_human,GAD,LHGDN,ORPHANET 26186983 Detail
0.003 Leukemia, Myeloid, Chronic-Phase Here, we studied whether amplicon next-generation deep sequencing (NGS) could im... BeFree 25367136 Detail
0.003 Leukemia, Myeloid, Chronic-Phase Shorter halving time of BCR-ABL1 transcripts is a novel predictor for achievemen... BeFree 25530131 Detail
0.003 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
<0.001 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree Detail
<0.001 prolymphocytic leukemia NA BeFree Detail
0.004 acute promyelocytic leukemia NA BeFree Detail
<0.001 Leukemia, Radiation-Induced NA BeFree Detail
<0.001 Leukemia, T-Cell NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
<0.001 Leukoencephalopathy, Progressive Multifocal NA BeFree Detail
<0.001 liver cirrhosis NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
<0.001 Lupus Vulgaris We have shown previously that AM14 RF B cells break tolerance in the TC mouse mo... BeFree 25957308 Detail
<0.001 Lupus Erythematosus, Discoid We have shown previously that AM14 RF B cells break tolerance in the TC mouse mo... BeFree 25957308 Detail
0.001 Lupus Erythematosus, Systemic We have shown previously that AM14 RF B cells break tolerance in the TC mouse mo... BeFree 25957308 Detail
0.004 lymphoma NA BeFree Detail
0.002 Lymphoma, Follicular NA BeFree Detail
<0.001 paroxysmal nocturnal hemoglobinuria NA BeFree Detail
<0.001 medulloblastoma NA BeFree Detail
0.005 melanoma NA BeFree,GAD Detail
0.003 meningioma NA BeFree,LHGDN Detail
<0.001 Mixed Salivary Gland Tumor NA BeFree Detail
0.001 Monosomy NA BeFree Detail
0.001 multiple myeloma NA BeFree Detail
<0.001 multiple sclerosis Intrathecal BCR transcriptome in multiple sclerosis versus other neuroinflammati... BeFree 26055752 Detail
<0.001 Myelodysplasia NA BeFree Detail
0.001 myelofibrosis Is there a role for JAK inhibitors in BCR-ABL1-negative myeloproliferative neopl... BeFree 25520049 Detail
<0.001 Myeloid Metaplasia NA BeFree Detail
0.128 Myeloproliferative disease To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree,CTD_human,LHGDN 24813417 Detail
0.128 Myeloproliferative disease The discovery of the JAK2V617F mutation followed by the discovery of other genet... BeFree,CTD_human,LHGDN 25486952 Detail
0.128 Myeloproliferative disease Current data suggest that constitutively active JAK-STAT signaling plays a centr... BeFree,CTD_human,LHGDN 25520049 Detail
0.128 Myeloproliferative disease Discrepancies between bone marrow histopathology and clinical phenotype in BCR-A... BeFree,CTD_human,LHGDN 25840747 Detail
0.128 Myeloproliferative disease RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) over... BeFree,CTD_human,LHGDN 25899435 Detail
0.128 Myeloproliferative disease Identification of BCR-ABL1 tyrosine kinase as a driver of chronic myeloid leukem... BeFree,CTD_human,LHGDN 26062813 Detail
0.128 Myeloproliferative disease The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR ex... BeFree,CTD_human,LHGDN 26071474 Detail
0.120 Necrosis NA CTD_human Detail
0.120 Neoplasms, Experimental NA CTD_human Detail
0.001 nephroblastoma NA BeFree Detail
<0.001 Neurofibromatosis 2 NA BeFree Detail
<0.001 obesity NA BeFree Detail
<0.001 pancytopenia NA BeFree Detail
<0.001 Pleural effusion disorder NA BeFree Detail
0.003 polycythemia NA LHGDN Detail
0.004 polycythemia vera The discovery of the JAK2V617F mutation followed by the discovery of other genet... BeFree,LHGDN 25486952 Detail
<0.001 Preleukemia NA BeFree Detail
<0.001 pure red-cell aplasia NA BeFree Detail
<0.001 retinoblastoma NA BeFree Detail
<0.001 Kaposi sarcoma Kaposi's sarcoma-associated herpesvirus microRNAs repress breakpoint cluster reg... BeFree 25631082 Detail
<0.001 schistosomiasis NA BeFree Detail
0.003 Sezary syndrome NA LHGDN Detail
<0.001 Skin lesion NA BeFree Detail
<0.001 Spinal Cord Diseases NA BeFree Detail
<0.001 stereotypic movement disorder NA BeFree Detail
0.005 Thrombocythemia, Essential The discovery of the JAK2V617F mutation followed by the discovery of other genet... BeFree,LHGDN 25486952 Detail
0.002 Tobacco use disorder NA GAD Detail
<0.001 Trisomy NA BeFree Detail
<0.001 Unipolar Depression NA BeFree Detail
<0.001 Uterine Fibroids NA BeFree Detail
0.001 B-Cell Lymphomas NA BeFree Detail
<0.001 Immunoblastic Large-Cell Lymphoma NA BeFree Detail
<0.001 Precursor cell lymphoblastic lymphoma NA BeFree Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
0.011 acute leukemia NA BeFree Detail
<0.001 Monocytosis NA BeFree Detail
<0.001 Bone pain NA BeFree Detail
<0.001 Granulocytic Sarcoma We report a humanized experimental leukemia model where xenografts develop aggre... BeFree 24791856 Detail
<0.001 Eosinophilic leukemia NA BeFree Detail
<0.001 Neuroectodermal Tumor, Primitive NA BeFree Detail
<0.001 Rhabdoid Tumor NA BeFree Detail
<0.001 Adult Acute Myeloblastic Leukemia NA BeFree Detail
<0.001 pediatric acute myeloblastic leukemia NA BeFree Detail
<0.001 Gastrointestinal Stromal Tumors NA BeFree Detail
0.007 Malignant neoplasm of lung NA BeFree,GAD Detail
0.005 Neoplasm, Residual In chronic myeloid leukemia, the identification of individual BCR-ABL1 fusions i... BeFree 25928096 Detail
<0.001 Isochromosomes NA BeFree Detail
<0.001 Miller Dieker syndrome NA BeFree Detail
<0.001 Virchow's node (disorder) Our findings implicate STAT3 as a critical signaling node in BCR-ABL1 kinase-ind... BeFree 25134459 Detail
<0.001 recurrent adult acute lymphoblastic leukemia NA BeFree Detail
<0.001 relapsing chronic myelogenous leukemia NA BeFree Detail
0.005 Philadelphia chromosome positive chronic myelogenous leukemia NA BeFree Detail
0.002 Philadelphia chromosome negative chronic myelogenous leukemia NA BeFree Detail
<0.001 B-cell adult acute lymphoblastic leukemia NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 Acute Undifferentiated Leukemia NA BeFree Detail
<0.001 secondary acute myeloid leukemia NA BeFree Detail
<0.001 Primary central nervous system lymphoma To elucidate its peculiar organ tropism, we generated recombinant Abs (recAbs) i... BeFree 26116512 Detail
<0.001 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse NA BeFree Detail
<0.001 chronic eosinophilic leukemia NA BeFree Detail
<0.001 Pre B-cell acute lymphoblastic leukemia NA BeFree Detail
0.002 juvenile myelomonocytic leukemia NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
0.001 Hematopoietic Neoplasms BCR-ABL1(+) precursor B-cell acute lymphoblastic leukemia (BCR-ABL1(+) B-ALL) is... BeFree 25775523 Detail
0.002 Hematologic Neoplasms Among these, a very rare fusion transcript joining the first 6 exons of BCR to e... BeFree 26149409 Detail
0.002 Chromosome Breakage NA GAD Detail
<0.001 Non-alcoholic Fatty Liver Disease NA BeFree Detail
<0.001 lupus erythematosus We have shown previously that AM14 RF B cells break tolerance in the TC mouse mo... BeFree 25957308 Detail
<0.001 Chromosome 8, trisomy NA BeFree Detail
<0.001 High grade T-cell lymphoma NA BeFree Detail
<0.001 Blast cell proliferation NA BeFree Detail
0.014 Thyroid carcinoma NA GAD Detail
<0.001 Ewings sarcoma NA BeFree Detail
0.001 Carcinogenesis NA BeFree Detail
0.002 Leukemogenesis NA BeFree Detail
0.128 Myeloproliferative disease Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative ... BeFree 19466975 Detail
<0.001 Progressive Neoplastic Disease NA BeFree Detail
<0.001 Refractory cancer NA BeFree Detail
0.004 polycythemia vera In the present study, we used mice with a conditional null mutation in the Stat5... BeFree 22234689 Detail
0.396 Myeloid Leukemia, Chronic Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.005 Chronic myeloproliferative disorder Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disor... BeFree 17255768 Detail
0.005 Thrombocythemia, Essential Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic... BeFree 22847163 Detail
0.144 Blast Phase Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor ce... BeFree 16442619 Detail
0.396 Myeloid Leukemia, Chronic The recently described JAK2 V617F mutation, present in a substantial proportion ... BeFree 17255768 Detail
0.004 Primary myelofibrosis Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential t... BeFree 24475114 Detail
<0.001 Terminal illness NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
0.005 Chronic myeloproliferative disorder Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative ... BeFree 19466975 Detail
0.005 skin carcinoma NA GAD Detail
0.002 adult acute lymphocytic leukemia NA BeFree Detail
<0.001 thrombocytosis NA BeFree Detail
<0.001 Rhabdoid Tumor of the Kidney NA BeFree Detail
0.007 Philadelphia chromosome positive This phase II study investigated the efficacy and safety of radotinib in Philade... BeFree 24705186 Detail
0.007 Philadelphia chromosome positive Mutations in the BCR-ABL1 kinase domain are an established mechanism of tyrosine... BeFree 25134459 Detail
0.007 Philadelphia chromosome positive Telomerase activity was significantly lower in Philadelphia chromosome-negative/... BeFree 25675863 Detail
0.007 Philadelphia chromosome positive Further gains in our understanding of the biology of Philadelphia chromosome-pos... BeFree 25700679 Detail
<0.001 Autosomal recessive agammaglobulinemia NA BeFree Detail
<0.001 Chronic graft-versus-host disease NA BeFree Detail
<0.001 ovarian neoplasm Consistent with a restricted epitope-driven response, a subset of basal-like and... BeFree 24916698 Detail
<0.001 Non-Hematologic Malignancy NA BeFree Detail
0.002 Malignant neoplasm of ovary NA GAD Detail
0.003 major depressive disorder NA BeFree,GAD Detail
0.001 Chronic leukemia (category) NA BeFree Detail
0.005 Precursor B-cell lymphoblastic leukemia Expression of CD25 is a specific and relatively sensitive marker for the Philade... BeFree 25337274 Detail
0.005 Precursor B-cell lymphoblastic leukemia BCR-ABL1(+) precursor B-cell acute lymphoblastic leukemia (BCR-ABL1(+) B-ALL) is... BeFree 25775523 Detail
0.002 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative NA BeFree Detail
0.005 Chronic myeloproliferative disorder To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
0.005 Chronic myeloproliferative disorder The discovery of the JAK2V617F mutation followed by the discovery of other genet... BeFree 25486952 Detail
0.005 Chronic myeloproliferative disorder Current data suggest that constitutively active JAK-STAT signaling plays a centr... BeFree 25520049 Detail
0.005 Chronic myeloproliferative disorder Discrepancies between bone marrow histopathology and clinical phenotype in BCR-A... BeFree 25840747 Detail
0.005 Chronic myeloproliferative disorder RARS-T is a provisional entity in the MDS/MPN (myeloproliferative neoplasm) over... BeFree 25899435 Detail
0.005 Chronic myeloproliferative disorder Identification of BCR-ABL1 tyrosine kinase as a driver of chronic myeloid leukem... BeFree 26062813 Detail
0.005 Chronic myeloproliferative disorder The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR ex... BeFree 26071474 Detail
<0.001 Therapy-related myelodysplastic syndrome NA BeFree Detail
<0.001 Eosinophilic disorder To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
<0.001 Eosinophilic disorder We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q... BeFree 26095243 Detail
<0.001 Treatment related acute myeloid leukaemia NA BeFree Detail
<0.001 Undifferentiated leukemia NA BeFree Detail
0.015 colorectal cancer NA BeFree,GAD Detail
<0.001 Disorder characterized by eosinophilia To assess the presence of genetic imbalances in patients with myeloproliferative... BeFree 24813417 Detail
<0.001 Disorder characterized by eosinophilia We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q... BeFree 26095243 Detail
<0.001 Non-Neoplastic Disorder NA BeFree Detail
<0.001 B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 NA BeFree Detail
0.002 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 Philadelphia chromosome-positive acute lymphoblastic leukemia Overall, our data suggest that metformin represents a promising and attractive a... BeFree 26186064 Detail
0.002 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q... BeFree 26095243 Detail
0.141 Precursor Cell Lymphoblastic Leukemia Lymphoma The presence of the Philadelphia chromosome causing the fusion between BCR to AB... BeFree,CTD_human,LHGDN 24848770 Detail
0.141 Precursor Cell Lymphoblastic Leukemia Lymphoma IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukem... BeFree,CTD_human,LHGDN 25261097 Detail
<0.001 liver carcinoma NA BeFree Detail
0.120 chromosome 22q11.2 deletion syndrome, distal NA ORPHANET Detail
<0.001 Steatohepatitis NA BeFree Detail
<0.001 Promyelocytic leukemia NA BeFree Detail
<0.001 Mixed phenotype acute leukemia NA BeFree Detail
0.001 Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement NA BeFree Detail
<0.001 myeloid neoplasm Limited duration of complete remission on ruxolitinib in myeloid neoplasms with ... BeFree 25260694 Detail
<0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
<0.001 Progressive cGVHD NA BeFree Detail
0.120 Leukemia, acute lymphoblastic, susceptibility to, 3 NA ORPHANET Detail
<0.001 agammaglobulinemia NA BeFree Detail
0.004 Primary myelofibrosis The discovery of the JAK2V617F mutation followed by the discovery of other genet... BeFree 25486952 Detail
0.004 Primary myelofibrosis Is there a role for JAK inhibitors in BCR-ABL1-negative myeloproliferative neopl... BeFree 25520049 Detail
0.002 Alzheimer's disease NA GAD Detail
<0.001 amyloidosis NA BeFree Detail
<0.001 anemia NA BeFree Detail
<0.001 Refractory anaemia with excess blasts NA BeFree Detail
<0.001 aniridia NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
<0.001 Autoimmune Diseases NA BeFree Detail
0.003 bipolar disorder NA BeFree,GAD Detail
0.002 Malignant neoplasm of urinary bladder NA GAD Detail
0.144 Blast Phase The BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase, is t... BeFree,CTD_human 25501026 Detail
Annotation

Annotations

DescrptionSourceLinks
The second-generation tyrosine kinase inhibitor (TKI) of the BCR-ABL1 oncoprotein nilotinib used in ... DisGeNET Detail
Thus, morgana acts as an oncosuppressor with different modalities: (1) Morgana underexpression induc... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our results indicate that an MKP-3 pathway might regulate ERK dephosphorylation through Nox4 during ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q11.2) involving the ... 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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
On the basis of somatic hypermutation status of their B-cell antigen receptor (BCR) genes, chronic l... DisGeNET Detail
None of the three malignancies shared the same origin, since the marrow sample was negative for BCR-... DisGeNET Detail
Currently, new and highly effective therapeutic agents targeting BCR-mediated intracellular signal t... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The presence of the Philadelphia chromosome causing the fusion between BCR to ABL1 in B cell precurs... DisGeNET Detail
IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukemia (P=0.036), BCR-AB... DisGeNET Detail
The BCR-ABL1 fusion gene is a driver oncogene in chronic myeloid leukaemia and 30-50% of cases of ad... DisGeNET Detail
NA DisGeNET Detail
NA 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
The study reveals that MNKI-57 and MNKI-4 are most potent against leukemia cells KYO-1 (i.e.BC-CML) ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Patients with chronic myeloid leukemia (CML) can develop disease resistance to tyrosine kinase inhib... DisGeNET Detail
Mature dendritic cells (DCs) may be derived from the BCR/ABL1 expressing monocytes in chronic myeloi... DisGeNET Detail
Radotinib (IY5511HCL), a novel and selective BCR-ABL1 tyrosine kinase inhibitor, has shown pre-clini... DisGeNET Detail
The second-generation tyrosine kinase inhibitor (TKI) of the BCR-ABL1 oncoprotein nilotinib used in ... DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
The course of chronic myeloid leukemia (CML) and the response to treatment with tyrosine kinase inhi... DisGeNET Detail
CIP2A is overexpressed and involved in the pathogenesis of chronic myelocytic leukemia by interactin... DisGeNET Detail
Monitoring BCR-ABL1 expression levels relative to clinically validated response criteria on the Inte... DisGeNET Detail
CML (chronic myeloid leukaemia) is characterized by the presence of the oncogenic tyrosine kinase fu... DisGeNET Detail
Combined STAT3 and BCR-ABL1 inhibition induces synthetic lethality in therapy-resistant chronic myel... DisGeNET Detail
We investigated the impact of the BCR-ABL1 transcript level measured 3 months after starting imatini... DisGeNET Detail
The dynamics of BCR-ABL1 clearance observed in our study suggest that the use of standard or high-do... DisGeNET Detail
Chronic myeloid leukemia (CML) involves the malignant transformation of hematopoietic stem cells, de... DisGeNET Detail
A combination of STI571 and BCR-ABL1 siRNA with overexpressed p15INK4B induced enhanced proliferatio... DisGeNET Detail
Imatinib was the first BCR-ABL1 tyrosine kinase inhibitor (TKI) developed for the treatment of patie... DisGeNET Detail
In this study we took advantage of existing cellular models for chronic myeloid leukemia resistance,... DisGeNET Detail
The BCR-ABL1 fusion gene is the molecular marker of chronic myeloid leukemia (CML). DisGeNET Detail
The BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase, is thought to be suffici... DisGeNET Detail
These data implicate RAN in BCR-ABL1 kinase-independent imatinib resistance and show that shRNA libr... DisGeNET Detail
Molecular response to imatinib in chronic myeloid leukaemia with a variant e13a3 BCR-ABL1 fusion. DisGeNET Detail
The BCR-ABL1 fusion gene is a driver oncogene in chronic myeloid leukaemia and 30-50% of cases of ad... DisGeNET Detail
This focused review highlights critical elements of the underlying biology of CML and provides a sum... DisGeNET Detail
Targeted therapy of chronic myeloid leukemia (CML) is currently based on small-molecule inhibitors t... DisGeNET Detail
CBF) or BCR-ABL1 fusion and activation of multiple kinases in chronic myeloid leukemia (CML). DisGeNET Detail
The cell biology of CML is also centred on BCR-ABL1. DisGeNET Detail
Serial quantification of BCR-ABL1 messenger RNA (mRNA) is an important therapeutic indicator for pat... DisGeNET Detail
Given that the BCR-ABL1 oncogene is a known key cause of CML, it has led to the development of numer... DisGeNET Detail
A thirty-five nucleotides BCR-ABL1 insertion mutation of controversial significance confers resistan... DisGeNET Detail
Characterization of 46 patient-specific BCR-ABL1 fusions and detection of SNPs upstream and downstre... DisGeNET Detail
Identification of BCR-ABL1 tyrosine kinase as a driver of chronic myeloid leukemia (CML) and success... DisGeNET Detail
BCR-ABL1 mutation development during first-line treatment with dasatinib or imatinib for chronic mye... DisGeNET Detail
More than 95 % of BCR-ABL1 transcripts in CML are either e13a2 or e14a2 (major breakpoint cluster re... DisGeNET Detail
Comparison of molecular responses based on BCR-ABL1% (IS) results from an in-house TaqMan-based qPCR... DisGeNET Detail
Cytogenetic, fluorescence in situ hybridization, and genomic array characterization of chronic myelo... DisGeNET Detail
Here, we studied whether amplicon next-generation deep sequencing (NGS) could improve the detection ... 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
We have shown previously that AM14 RF B cells break tolerance in the TC mouse model of lupus through... DisGeNET Detail
We have shown previously that AM14 RF B cells break tolerance in the TC mouse model of lupus through... DisGeNET Detail
We have shown previously that AM14 RF B cells break tolerance in the TC mouse model of lupus through... 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
Intrathecal BCR transcriptome in multiple sclerosis versus other neuroinflammation: Equally diverse ... DisGeNET Detail
NA DisGeNET Detail
Is there a role for JAK inhibitors in BCR-ABL1-negative myeloproliferative neoplasms other than myel... DisGeNET Detail
NA DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
The discovery of the JAK2V617F mutation followed by the discovery of other genetic abnormalities all... 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
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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The discovery of the JAK2V617F mutation followed by the discovery of other genetic abnormalities all... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Kaposi's sarcoma-associated herpesvirus microRNAs repress breakpoint cluster region protein expressi... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The discovery of the JAK2V617F mutation followed by the discovery of other genetic abnormalities all... 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
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
NA 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
Our findings implicate STAT3 as a critical signaling node in BCR-ABL1 kinase-independent TKI resista... 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
To elucidate its peculiar organ tropism, we generated recombinant Abs (recAbs) identical to the BCR ... 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
We have shown previously that AM14 RF B cells break tolerance in the TC mouse model of lupus through... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patie... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In the present study, we used mice with a conditional null mutation in the Stat5a/b gene locus to de... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
Bone marrow phospho-STAT5 expression in non-CML chronic myeloproliferative disorders correlates with... DisGeNET Detail
Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which f... DisGeNET Detail
Absence of the JAK2 mutation V617F in CD34+ hematopoietic stem and progenitor cells from patients wi... DisGeNET Detail
The recently described JAK2 V617F mutation, present in a substantial proportion of nonchronic myelog... DisGeNET Detail
Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, poly... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Data on angiogenesis in the bone marrow of BCR-ABL1-negative myeloproliferative neoplasm (MPN) patie... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This phase II study investigated the efficacy and safety of radotinib in Philadelphia chromosome-pos... DisGeNET Detail
Mutations in the BCR-ABL1 kinase domain are an established mechanism of tyrosine kinase inhibitor (T... DisGeNET Detail
Telomerase activity was significantly lower in Philadelphia chromosome-negative/IKAROS-deleted (BCR-... DisGeNET Detail
Further gains in our understanding of the biology of Philadelphia chromosome-positive (Ph-positive) ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Consistent with a restricted epitope-driven response, a subset of basal-like and HER2-enriched breas... 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
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
The discovery of the JAK2V617F mutation followed by the discovery of other genetic abnormalities all... 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
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
NA DisGeNET Detail
To assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 3... DisGeNET Detail
We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q11.2) involving the ... 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
We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q11.2) involving the ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Overall, our data suggest that metformin represents a promising and attractive agent for Ph+ALL or C... DisGeNET Detail
We present the first case of T acute lymphoblastic leukemia with a t(4;22)(q12;q11.2) involving the ... DisGeNET Detail
The presence of the Philadelphia chromosome causing the fusion between BCR to ABL1 in B cell precurs... DisGeNET Detail
IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukemia (P=0.036), BCR-AB... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JA... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The discovery of the JAK2V617F mutation followed by the discovery of other genetic abnormalities all... 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
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The BCR-ABL1 fusion gene, encoding a constitutively active tyrosine kinase, is thought to be suffici... 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
chr22:23,522,552-23,660,224
Variant Type
snv
Genome browser