chr21:36160098:> Detail (hg19) (RUNX1)

Information

Genome

Assembly Position
hg19 chr21:36,160,098-36,421,641
hg38 chr21:34,787,801-35,049,344 

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
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 27137476 Detail
acute myeloid leukemia Cytarabine B Predictive Supports Resistance Somatic 4 21343560 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 21343560 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 21343560 Detail
acute lymphoblastic leukemia B Prognostic Supports Poor Outcome Somatic 3 23341344 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 22753902 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 squamous cell carcinoma NA BeFree Detail
0.005 Congenital chromosomal disease Amplification of c-MYC, MLL and RUNX1 genes by means of fluorescence in situ hyb... BeFree 26214902 Detail
0.005 Congenital chromosomal disease A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal ... BeFree 26333776 Detail
0.002 ulcerative colitis NA GAD Detail
<0.001 colorectal carcinoma NA BeFree Detail
<0.001 Coronary Arteriosclerosis NA BeFree Detail
0.002 Crohn Disease NA GAD Detail
0.003 Diabetes Mellitus, Insulin-Dependent NA BeFree,GAD Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.133 Down syndrome NA BeFree,CTD_human,LHGDN Detail
<0.001 Dwarfism NA BeFree Detail
0.080 endometriosis NA RGD Detail
<0.001 Ependymoma NA BeFree Detail
0.003 Esophageal Neoplasms LincRNA-uc002yug.2 involves in alternative splicing of RUNX1 and serves as a pre... BeFree,GAD 25486427 Detail
0.001 Exanthema NA BeFree Detail
0.004 Fanconi anemia NA BeFree,LHGDN Detail
0.120 glioblastoma NA CTD_human Detail
<0.001 Glioma Taken together, our present study indicated that miR-18a increased the permeabil... BeFree 25452107 Detail
<0.001 congenital heart defects NA BeFree Detail
<0.001 Hematological Disease NA BeFree Detail
<0.001 Hepatosplenomegaly NA BeFree Detail
<0.001 Congenital hypoplasia NA BeFree Detail
0.115 leukemia Disruption of Runx1 and Runx3 leads to bone marrow failure and leukemia predispo... BeFree,GAD,LHGDN 25066130 Detail
0.115 leukemia Altogether, RUNX1 dosage could explain the differential phenotype according to R... BeFree,GAD,LHGDN 25490895 Detail
0.115 leukemia C/EBPα expression is suppressed as a result of common leukemia-associated geneti... BeFree,GAD,LHGDN 25760953 Detail
0.115 leukemia Further investigation into the clinical and biological significance of elevated ... BeFree,GAD,LHGDN 26111797 Detail
0.115 leukemia RUNX1 and CBFB are among the most frequently mutated genes in human leukemias. BeFree,GAD,LHGDN 26165235 Detail
0.115 leukemia Thus, Wnt/β-catenin signaling induces transcription and translocation of RUNX1 a... BeFree,GAD,LHGDN 26333776 Detail
0.003 lymphoid leukemia Heterogeneity of Abnormal RUNX1 Leading to Clinicopathologic Variations in Child... BeFree 26185316 Detail
0.045 Acute lymphocytic leukemia Copy number genome alterations are associated with treatment response and outcom... BeFree 24241490 Detail
0.045 Acute lymphocytic leukemia We have addressed the issue in the context of TEL-AML1-associated acute lymphobl... BeFree 24909160 Detail
0.045 Acute lymphocytic leukemia Through a novel approach combining gene expression and interactome data analysis... BeFree 25273558 Detail
0.045 Acute lymphocytic leukemia Patients with B-other ALL had more relapses (CIR 50%, LFS 41%) than T-ALL and th... BeFree 25312094 Detail
0.045 Acute lymphocytic leukemia We reasoned that shared clonal rearrangements of IG or TCR genes by concordant A... BeFree 25388957 Detail
0.045 Acute lymphocytic leukemia Heterogeneity of Abnormal RUNX1 Leading to Clinicopathologic Variations in Child... BeFree 26185316 Detail
0.028 Leukemia, Lymphocytic, Acute, L1 We analyzed cells from peripheral blood and CD34-/CD34+ cells from bone marrow o... BeFree 25244981 Detail
0.002 Acute Megakaryocytic Leukemias NA BeFree Detail
<0.001 acute monocytic leukemia NA BeFree Detail
0.261 Leukemia, Myelocytic, Acute AML1-ETO triggers epigenetic activation of early growth response gene l, inducin... BeFree,CTD_human,GAD,LHGDN 24314118 Detail
0.261 Leukemia, Myelocytic, Acute To investigate the physiological function of RUNX1 in human hematopoiesis and pa... BeFree,CTD_human,GAD,LHGDN 24732596 Detail
0.261 Leukemia, Myelocytic, Acute Mutations of RUNX1 have been reported to be associated with familial platelet di... BeFree,CTD_human,GAD,LHGDN 24853048 Detail
0.261 Leukemia, Myelocytic, Acute The RUNX1/ETO (RE) fusion protein, which originates from the t(8;21) chromosomal... BeFree,CTD_human,GAD,LHGDN 24897507 Detail
0.261 Leukemia, Myelocytic, Acute RUNX1 translocations and amplifications have been implicated in acute myeloblast... BeFree,CTD_human,GAD,LHGDN 24912843 Detail
0.261 Leukemia, Myelocytic, Acute Here we identify somatic mutations in additional sex combs-like 2 (ASXL2) in 22.... BeFree,CTD_human,GAD,LHGDN 24973361 Detail
0.261 Leukemia, Myelocytic, Acute ASXL1 mutation, particularly in the context of a coexisting RUNX1 mutation, cons... BeFree,CTD_human,GAD,LHGDN 25596267 Detail
0.261 Leukemia, Myelocytic, Acute To elucidate the role of epigenetics in RUNX inactivation, we evaluated promoter... BeFree,CTD_human,GAD,LHGDN 25612675 Detail
0.261 Leukemia, Myelocytic, Acute In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p... BeFree,CTD_human,GAD,LHGDN 25635758 Detail
0.261 Leukemia, Myelocytic, Acute In this study, we present a novel Tet2-dependent leukemia mouse model that close... BeFree,CTD_human,GAD,LHGDN 25886910 Detail
0.261 Leukemia, Myelocytic, Acute Because of the pressing need for new therapies in the treatment of acute myleoid... BeFree,CTD_human,GAD,LHGDN 25928846 Detail
0.261 Leukemia, Myelocytic, Acute These findings clearly indicate that the RUNX1 mutation is robustly associated w... BeFree,CTD_human,GAD,LHGDN 26021490 Detail
0.261 Leukemia, Myelocytic, Acute We identified chromosomal deletions within the WASP gene in two patients with Wi... BeFree,CTD_human,GAD,LHGDN 26175287 Detail
0.261 Leukemia, Myelocytic, Acute Amplification of c-MYC, MLL and RUNX1 genes by means of fluorescence in situ hyb... BeFree,CTD_human,GAD,LHGDN 26214902 Detail
0.261 Leukemia, Myelocytic, Acute A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal ... BeFree,CTD_human,GAD,LHGDN 26333776 Detail
0.261 Leukemia, Myelocytic, Acute In accordance with our observation that increased expression of miR-126 is assoc... BeFree,CTD_human,GAD,LHGDN 26361793 Detail
0.015 myeloid leukemia Acute multilineage (B/myeloid) leukemia with RUNX1 duplication/amplification and... BeFree,LHGDN 24912843 Detail
0.130 Myeloid Leukemia, Chronic NA BeFree,LHGDN,ORPHANET Detail
<0.001 Leukemia, Myeloid, Chronic-Phase NA BeFree Detail
<0.001 acute myelomonocytic leukemia NA BeFree Detail
0.006 Leukemia, Myelomonocytic, Chronic NA BeFree,GAD Detail
0.122 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree,CTD_human Detail
0.003 acute promyelocytic leukemia NA BeFree Detail
<0.001 Leukoencephalopathy, Progressive Multifocal NA BeFree Detail
0.002 liver cirrhosis NA GAD Detail
<0.001 Lung diseases NA BeFree Detail
<0.001 Lupus Erythematosus, Systemic NA BeFree Detail
<0.001 Lymphohistiocytosis, Hemophagocytic NA BeFree Detail
<0.001 lymphoma NA BeFree Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
<0.001 melanoma NA BeFree Detail
0.001 Monosomy NA BeFree Detail
0.003 multiple myeloma NA LHGDN Detail
0.004 Myelodysplasia Mutations of RUNX1 have been reported to be associated with familial platelet di... BeFree 24853048 Detail
<0.001 myelofibrosis NA BeFree Detail
0.002 Myeloproliferative disease Here, we show that Runx1;Runx3 double-knockout (DKO) mice exhibited lethal pheno... BeFree 25066130 Detail
0.002 Myeloproliferative disease In mouse models, class I mutations such as the Bcr-Abl fusion kinase induce MPN ... BeFree 25504228 Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
<0.001 nephroblastoma NA BeFree Detail
<0.001 neurofibromatosis 1 NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
0.002 Pancreatic Neoplasm NA GAD Detail
0.004 pancytopenia Disruption of Runx1 and Runx3 leads to bone marrow failure and leukemia predispo... BeFree,LHGDN 25066130 Detail
<0.001 Pituitary Diseases NA BeFree Detail
<0.001 Pituitary Neoplasms NA BeFree Detail
<0.001 platelet storage pool deficiency NA BeFree Detail
<0.001 polycythemia NA BeFree Detail
<0.001 polycythemia vera NA BeFree Detail
<0.001 Precancerous Conditions NA BeFree Detail
0.013 Preleukemia Somatic mutation of RUNX1 is implicated in various hematological malignancies, i... BeFree,GAD 24732596 Detail
0.013 Preleukemia Mutations of RUNX1 have been reported to be associated with familial platelet di... BeFree,GAD 24853048 Detail
0.013 Preleukemia Currently, Clinical Laboratory Improvement Amendments-approved testing exists fo... BeFree,GAD 25311743 Detail
0.120 Prostatic Neoplasms NA CTD_human Detail
0.003 psoriasis NA BeFree,GAD Detail
0.003 schizophrenia NA BeFree,GAD Detail
<0.001 Scoliosis, unspecified NA BeFree Detail
<0.001 Skin Neoplasms NA BeFree Detail
0.003 Stomach Neoplasms NA LHGDN Detail
0.008 thrombocytopenia NA LHGDN Detail
0.002 Tobacco use disorder NA GAD Detail
0.002 Trisomy NA BeFree Detail
<0.001 Wiskott-Aldrich syndrome We identified chromosomal deletions within the WASP gene in two patients with Wi... BeFree 26175287 Detail
0.012 acute leukemia Familial platelet disorder (FPD)/AML is an autosomal dominant disorder caused by... BeFree 24732596 Detail
<0.001 Atrophic condition of skin NA BeFree Detail
0.003 Myocardial Ischemia NA BeFree,LHGDN Detail
0.120 Muscle Weakness NA CTD_human Detail
<0.001 esophageal carcinoma LincRNA-uc002yug.2 involves in alternative splicing of RUNX1 and serves as a pre... BeFree 25486427 Detail
<0.001 Patau syndrome NA BeFree Detail
<0.001 Granulocytic Sarcoma NA BeFree Detail
<0.001 Tumor Progression NA BeFree Detail
<0.001 Carcinoma, Endometrioid NA BeFree Detail
0.001 Adult Acute Myeloblastic Leukemia NA BeFree Detail
0.002 pediatric acute myeloblastic leukemia NA BeFree Detail
<0.001 Congenital defects NA BeFree Detail
<0.001 Mastocytosis, Systemic NA BeFree Detail
<0.001 Mental condensation NA BeFree Detail
<0.001 Chronic intestinal pseudo-obstruction Some patients with CIPO carry mutations in RAD21 that disrupt the ability of its... BeFree 25575569 Detail
0.012 Neoplasm, Residual We asked whether minimal residual disease (MRD) determined by RUNX1/RUNX1T1 tran... BeFree 25082877 Detail
<0.001 Hantavirus Infections NA BeFree Detail
<0.001 Childhood asthma NA BeFree Detail
0.002 Miller Dieker syndrome NA BeFree Detail
<0.001 Shwachman syndrome NA BeFree Detail
<0.001 recurrent childhood acute lymphoblastic leukemia NA BeFree Detail
0.002 Malignant Childhood Neoplasm NA BeFree Detail
0.002 B-cell childhood acute lymphoblastic leukemia RUNX1 copy numbers seem to be proportional to the age of B-ALL onset and the fre... BeFree 26185316 Detail
0.121 Squamous cell carcinoma of esophagus Moreover, lincRNA-uc002yug.2 promoted a combination of RUNX1 and alternative spl... BeFree,GWASCAT 25486427 Detail
<0.001 Adenocarcinoma Of Esophagus NA BeFree Detail
0.001 Solid tumour Recent studies also highlight the importance of RUNX1 in solid tumors both as a ... BeFree 25263451 Detail
<0.001 Acute Undifferentiated Leukemia In accordance with our observation that increased expression of miR-126 is assoc... BeFree 26361793 Detail
0.002 secondary acute myeloid leukemia The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transfor... BeFree 25252869 Detail
<0.001 secondary myelodysplastic syndromes NA BeFree Detail
<0.001 interstitial cystitis NA BeFree Detail
<0.001 Triploidy syndrome NA BeFree Detail
<0.001 Congenital neutropenia NA BeFree Detail
<0.001 Disseminated Malignant Neoplasm NA BeFree Detail
<0.001 Common acute lymphoblastic leukemia NA BeFree Detail
0.124 juvenile myelomonocytic leukemia NA BeFree,CTD_human,LHGDN Detail
<0.001 Ischemic cardiomyopathy NA BeFree Detail
0.003 Malignant neoplasm of prostate These results indicated the significance of RUNX1 for androgen-dependency and th... BeFree,GAD 25537508 Detail
0.001 Hematopoietic Neoplasms Disruption of RUNX1 activity has been implicated in the development of hematopoi... BeFree 25263451 Detail
0.013 Hematologic Neoplasms Somatic mutation of RUNX1 is implicated in various hematological malignancies, i... BeFree,LHGDN 24732596 Detail
<0.001 Developmental delay (disorder) NA BeFree Detail
<0.001 Chromosome 8, trisomy The aim of our study was 1) to define if the amplification of c-MYC, MLL and RUN... BeFree 26214902 Detail
<0.001 Acute monoblastic leukemia NA BeFree Detail
0.002 endometrial carcinoma NA BeFree Detail
0.001 Acute myeloid leukemia, minimal differentiation NA BeFree Detail
0.120 Malignant neoplasm of esophagus LincRNA-uc002yug.2 involves in alternative splicing of RUNX1 and serves as a pre... BeFree,GWASCAT 25486427 Detail
<0.001 Congenital scoliosis NA BeFree Detail
0.003 Carcinogenesis Finally, we discuss how aberrant PTMs of RUNX1 might contribute to tumorigenesis... BeFree 25263451 Detail
0.030 Leukemogenesis FPD-iPSCs will be a useful tool to investigate mutant RUNX1-mediated molecular p... BeFree 24732596 Detail
0.030 Leukemogenesis RUNX1 and RUNX3 are frequently associated with leukemias, yet the basis for thei... BeFree 25066130 Detail
0.030 Leukemogenesis Our data on increased DSB levels in the BCR-ABL/TEL-AML1 patient's cells support... BeFree 25244981 Detail
0.030 Leukemogenesis AML1/ETO cooperates with HIF1α to promote leukemogenesis through DNMT3a transact... BeFree 25727291 Detail
0.030 Leukemogenesis We show in this study that both overexpression and knockout of microRNA (miR)-12... BeFree 26361793 Detail
<0.001 Lymphoid neoplasm Myeloid and lymphoid neoplasm with abnormalities of FGFR1 presenting with trilin... BeFree 25873510 Detail
<0.001 monocytic leukemia NA BeFree Detail
0.124 juvenile myelomonocytic leukemia Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or ... BeFree 20955399 Detail
0.001 Primary myelofibrosis AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia... BeFree 20339092 Detail
<0.001 prostate carcinoma These results indicated the significance of RUNX1 for androgen-dependency and th... BeFree 25537508 Detail
0.002 hepatopulmonary syndrome NA GAD Detail
<0.001 Epithelial ovarian cancer MiR-302b functions as a tumor suppressor in EOC by targeting RUNX1 and modulatin... BeFree 25562167 Detail
<0.001 Friend leukemia NA BeFree Detail
0.001 breast carcinoma NA BeFree Detail
0.261 Leukemia, Myelocytic, Acute Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AM... BeFree 22571758 Detail
<0.001 polycythemia vera AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia... BeFree 20339092 Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
<0.001 Acquired scoliosis NA BeFree Detail
<0.001 Hypereosinophilia Acute multilineage (B/myeloid) leukemia with RUNX1 duplication/amplification and... BeFree 24912843 Detail
0.002 adult acute lymphocytic leukemia NA BeFree Detail
<0.001 Jacobsen Distal 11q Deletion Syndrome NA BeFree Detail
0.001 Spots on skin NA BeFree Detail
<0.001 Leukemia secondary NA BeFree Detail
0.003 ovarian neoplasm NA LHGDN Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
0.007 Precursor B-cell lymphoblastic leukemia Further investigation into the clinical and biological significance of elevated ... BeFree 26111797 Detail
<0.001 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative NA BeFree Detail
<0.001 Acute myeloid leukemia with multilineage dysplasia NA BeFree Detail
<0.001 Therapy-related acute myeloid leukemia and myelodysplastic syndrome NA BeFree Detail
0.002 Chronic myeloproliferative disorder Here, we show that Runx1;Runx3 double-knockout (DKO) mice exhibited lethal pheno... BeFree 25066130 Detail
0.002 Chronic myeloproliferative disorder In mouse models, class I mutations such as the Bcr-Abl fusion kinase induce MPN ... BeFree 25504228 Detail
0.002 Therapy-related myelodysplastic syndrome NA BeFree Detail
<0.001 Secondary polycythemia NA BeFree Detail
<0.001 M5b Acute differentiated monocytic leukemia NA BeFree Detail
<0.001 Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome We report here a multicentre retrospective study of 157 patients treated with AZ... BeFree 26113240 Detail
0.002 childhood leukemia NA BeFree Detail
0.001 Treatment related acute myeloid leukaemia NA BeFree Detail
<0.001 Epithelioma NA BeFree Detail
<0.001 Undifferentiated leukemia In accordance with our observation that increased expression of miR-126 is assoc... BeFree 26361793 Detail
<0.001 Mammary Neoplasms NA BeFree Detail
<0.001 Cancer Cell Growth NA BeFree Detail
<0.001 Xenograft Model NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Acute myeloid leukemia, inv(16)(p13q22) NA BeFree Detail
<0.001 Adenocarcinoma, Endometrioid NA BeFree Detail
<0.001 THROMBOCYTOPENIA 1 (disorder) We identified chromosomal deletions within the WASP gene in two patients with Wi... BeFree 26175287 Detail
0.005 MULTICYSTIC RENAL DYSPLASIA, BILATERAL NA BeFree Detail
0.001 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 NA BeFree Detail
<0.001 severe congenital neutropenia NA BeFree Detail
<0.001 DOWN SYNDROME CRITICAL REGION NA BeFree Detail
<0.001 THROMBOCYTOPENIA 2 (disorder) We identified chromosomal deletions within the WASP gene in two patients with Wi... BeFree 26175287 Detail
0.002 Acute Myeloid Leukemia (AML-M2) NA BeFree Detail
<0.001 uterine corpus cancer NA BeFree Detail
0.005 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma NA BeFree,LHGDN Detail
0.197 Precursor Cell Lymphoblastic Leukemia Lymphoma Copy number genome alterations are associated with treatment response and outcom... BeFree,CTD_human,GAD,LHGDN 24241490 Detail
0.197 Precursor Cell Lymphoblastic Leukemia Lymphoma We have addressed the issue in the context of TEL-AML1-associated acute lymphobl... BeFree,CTD_human,GAD,LHGDN 24909160 Detail
0.197 Precursor Cell Lymphoblastic Leukemia Lymphoma Through a novel approach combining gene expression and interactome data analysis... BeFree,CTD_human,GAD,LHGDN 25273558 Detail
0.197 Precursor Cell Lymphoblastic Leukemia Lymphoma We reasoned that shared clonal rearrangements of IG or TCR genes by concordant A... BeFree,CTD_human,GAD,LHGDN 25388957 Detail
0.197 Precursor Cell Lymphoblastic Leukemia Lymphoma Heterogeneity of Abnormal RUNX1 Leading to Clinicopathologic Variations in Child... BeFree,CTD_human,GAD,LHGDN 26185316 Detail
<0.001 Hyperdiploid B Acute Lymphoblastic Leukemia NA BeFree Detail
0.001 Promyelocytic leukemia NA BeFree Detail
<0.001 Treatment related leukaemia NA BeFree Detail
<0.001 Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement NA BeFree Detail
0.002 myeloid neoplasm Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from... BeFree 26021490 Detail
<0.001 Refractory anemia, without ringed sideroblasts, without excess blasts NA BeFree Detail
0.035 myelodysplastic syndrome Somatic mutation of RUNX1 is implicated in various hematological malignancies, i... BeFree,GAD,LHGDN 24732596 Detail
0.035 myelodysplastic syndrome Currently, Clinical Laboratory Improvement Amendments-approved testing exists fo... BeFree,GAD,LHGDN 25311743 Detail
<0.001 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
0.003 intellectual disability NA LHGDN Detail
0.120 Leukemia, acute lymphoblastic, susceptibility to, 3 NA ORPHANET Detail
<0.001 core binding factor acute myeloid leukemia The novelty of this study is dual.On the one hand, miRNAs (e.g. miR-17) can mimi... BeFree 25612891 Detail
<0.001 Cytogenetically normal acute myeloid leukemia NA BeFree Detail
<0.001 Congenital Abnormality NA BeFree Detail
0.001 Primary myelofibrosis The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transfor... BeFree 25252869 Detail
0.045 Acute lymphocytic leukemia The rs10828317 association was shown to be specifically associated with hyperdip... BeFree 23996088 Detail
0.197 Precursor Cell Lymphoblastic Leukemia Lymphoma The rs10828317 association was shown to be specifically associated with hyperdip... BeFree 23996088 Detail
<0.001 anemia NA BeFree Detail
<0.001 aplastic anemia NA BeFree Detail
<0.001 Refractory anemias NA BeFree Detail
0.001 Refractory anaemia with excess blasts NA BeFree Detail
0.136 rheumatoid arthritis Meta-analysis of SLC22A4 and RUNX1 polymorphisms : Associations with rheumatoid ... BeFree,CTD_human,GAD,LHGDN 24972750 Detail
0.003 asthma NA BeFree,GAD Detail
<0.001 Astrocytoma NA BeFree Detail
0.001 Autoimmune Diseases NA BeFree Detail
<0.001 Behcet Syndrome NA BeFree Detail
0.004 Blast Phase NA BeFree Detail
0.006 Blood Platelet Disorders Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in... BeFree 24853048 Detail
0.006 Blood Platelet Disorders Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from... BeFree 26021490 Detail
0.006 Blood Platelet Disorders We identified chromosomal deletions within the WASP gene in two patients with Wi... BeFree 26175287 Detail
<0.001 Bone neoplasms NA BeFree Detail
0.001 Malignant neoplasm of breast NA BeFree Detail
<0.001 Malignant neoplasm of endometrium NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
In patients with acute myeloid leukemia, those with RUNX1 mutations (n=245) had significantly worse ... CIViC Evidence Detail
In non-APL patients with AML (age 18-60), those who had mutations in RUNX1 had significantly shorter... CIViC Evidence Detail
In 878 non-APL patients with AML, those who had mutations in RUNX1 (N=53) had higher rates of refrac... CIViC Evidence Detail
In 878 non-APL patients with AML (18-60 years), those who had mutations in RUNX1 (N=53) had shorter ... CIViC Evidence Detail
In univariate analysis, mutations in RUNX1 were significantly associated with shorter overall surviv... CIViC Evidence Detail
In a study of patients with cytogenically normal acute myeloid leukemia, RUNX1 mutations were more f... CIViC Evidence Detail
NA DisGeNET Detail
Amplification of c-MYC, MLL and RUNX1 genes by means of fluorescence in situ hybridization (FISH) wa... DisGeNET Detail
A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal translocation t(8;21... 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
LincRNA-uc002yug.2 involves in alternative splicing of RUNX1 and serves as a predictor for esophagea... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Taken together, our present study indicated that miR-18a increased the permeability of BTB via RUNX1... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Disruption of Runx1 and Runx3 leads to bone marrow failure and leukemia predisposition due to transc... DisGeNET Detail
Altogether, RUNX1 dosage could explain the differential phenotype according to RUNX1 mutations, with... DisGeNET Detail
C/EBPα expression is suppressed as a result of common leukemia-associated genetic and epigenetic alt... DisGeNET Detail
Further investigation into the clinical and biological significance of elevated MN1 expression in TE... DisGeNET Detail
RUNX1 and CBFB are among the most frequently mutated genes in human leukemias. DisGeNET Detail
Thus, Wnt/β-catenin signaling induces transcription and translocation of RUNX1 and ETO fusion gene p... DisGeNET Detail
Heterogeneity of Abnormal RUNX1 Leading to Clinicopathologic Variations in Childhood B-Lymphoblastic... DisGeNET Detail
Copy number genome alterations are associated with treatment response and outcome in relapsed childh... DisGeNET Detail
We have addressed the issue in the context of TEL-AML1-associated acute lymphoblastic leukemia (ALL)... DisGeNET Detail
Through a novel approach combining gene expression and interactome data analysis, we provide new ins... DisGeNET Detail
Patients with B-other ALL had more relapses (CIR 50%, LFS 41%) than T-ALL and the main precursor-B s... DisGeNET Detail
We reasoned that shared clonal rearrangements of IG or TCR genes by concordant ALL in twins would be... DisGeNET Detail
Heterogeneity of Abnormal RUNX1 Leading to Clinicopathologic Variations in Childhood B-Lymphoblastic... DisGeNET Detail
We analyzed cells from peripheral blood and CD34-/CD34+ cells from bone marrow of pediatric acute ly... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
AML1-ETO triggers epigenetic activation of early growth response gene l, inducing apoptosis in t(8;2... DisGeNET Detail
To investigate the physiological function of RUNX1 in human hematopoiesis and pathophysiology of FPD... DisGeNET Detail
Mutations of RUNX1 have been reported to be associated with familial platelet disorder and with a pr... DisGeNET Detail
The RUNX1/ETO (RE) fusion protein, which originates from the t(8;21) chromosomal rearrangement, is o... DisGeNET Detail
RUNX1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute l... DisGeNET Detail
Here we identify somatic mutations in additional sex combs-like 2 (ASXL2) in 22.7% (25/110) of patie... DisGeNET Detail
ASXL1 mutation, particularly in the context of a coexisting RUNX1 mutation, constitutes a strong adv... DisGeNET Detail
To elucidate the role of epigenetics in RUNX inactivation, we evaluated promoter DNA methylation of ... DisGeNET Detail
In acute myeloid leukaemia (AML), the presence of t(8;21)(q22;q22) and inv(16)(p13q22)/t(16;16)(p13;... DisGeNET Detail
In this study, we present a novel Tet2-dependent leukemia mouse model that closely recapitulates gen... DisGeNET Detail
Because of the pressing need for new therapies in the treatment of acute myleoid leukemia, we invest... DisGeNET Detail
These findings clearly indicate that the RUNX1 mutation is robustly associated with thrombocytopenia... DisGeNET Detail
We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndro... DisGeNET Detail
Amplification of c-MYC, MLL and RUNX1 genes by means of fluorescence in situ hybridization (FISH) wa... DisGeNET Detail
A recurrent chromosomal abnormality in acute myeloid leukemia is the reciprocal translocation t(8;21... DisGeNET Detail
In accordance with our observation that increased expression of miR-126 is associated with unfavorab... DisGeNET Detail
Acute multilineage (B/myeloid) leukemia with RUNX1 duplication/amplification and hypereosinophilia. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Mutations of RUNX1 have been reported to be associated with familial platelet disorder and with a pr... DisGeNET Detail
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Here, we show that Runx1;Runx3 double-knockout (DKO) mice exhibited lethal phenotypes due to bone ma... DisGeNET Detail
In mouse models, class I mutations such as the Bcr-Abl fusion kinase induce MPN by themselves and so... DisGeNET Detail
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Disruption of Runx1 and Runx3 leads to bone marrow failure and leukemia predisposition due to transc... DisGeNET Detail
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Somatic mutation of RUNX1 is implicated in various hematological malignancies, including myelodyspla... DisGeNET Detail
Mutations of RUNX1 have been reported to be associated with familial platelet disorder and with a pr... DisGeNET Detail
Currently, Clinical Laboratory Improvement Amendments-approved testing exists for the following: fam... DisGeNET Detail
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We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndro... DisGeNET Detail
Familial platelet disorder (FPD)/AML is an autosomal dominant disorder caused by germline mutation o... DisGeNET Detail
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LincRNA-uc002yug.2 involves in alternative splicing of RUNX1 and serves as a predictor for esophagea... DisGeNET Detail
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Some patients with CIPO carry mutations in RAD21 that disrupt the ability of its product to regulate... DisGeNET Detail
We asked whether minimal residual disease (MRD) determined by RUNX1/RUNX1T1 transcript levels could ... DisGeNET Detail
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RUNX1 copy numbers seem to be proportional to the age of B-ALL onset and the frequency of CSF involv... DisGeNET Detail
Moreover, lincRNA-uc002yug.2 promoted a combination of RUNX1 and alternative splicing (AS) factors i... DisGeNET Detail
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Recent studies also highlight the importance of RUNX1 in solid tumors both as a tumor promoter and a... DisGeNET Detail
In accordance with our observation that increased expression of miR-126 is associated with unfavorab... DisGeNET Detail
The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transformation and was predo... DisGeNET Detail
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These results indicated the significance of RUNX1 for androgen-dependency and that loss of RUNX1 cou... DisGeNET Detail
Disruption of RUNX1 activity has been implicated in the development of hematopoietic neoplasms. DisGeNET Detail
Somatic mutation of RUNX1 is implicated in various hematological malignancies, including myelodyspla... DisGeNET Detail
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The aim of our study was 1) to define if the amplification of c-MYC, MLL and RUNX1 genes is related ... DisGeNET Detail
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LincRNA-uc002yug.2 involves in alternative splicing of RUNX1 and serves as a predictor for esophagea... DisGeNET Detail
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Finally, we discuss how aberrant PTMs of RUNX1 might contribute to tumorigenesis and also strategies... DisGeNET Detail
FPD-iPSCs will be a useful tool to investigate mutant RUNX1-mediated molecular processes in hematopo... DisGeNET Detail
RUNX1 and RUNX3 are frequently associated with leukemias, yet the basis for their involvement in leu... DisGeNET Detail
Our data on increased DSB levels in the BCR-ABL/TEL-AML1 patient's cells support a model where BCR-A... DisGeNET Detail
AML1/ETO cooperates with HIF1α to promote leukemogenesis through DNMT3a transactivation. DisGeNET Detail
We show in this study that both overexpression and knockout of microRNA (miR)-126 surprisingly resul... DisGeNET Detail
Myeloid and lymphoid neoplasm with abnormalities of FGFR1 presenting with trilineage blasts and RUNX... DisGeNET Detail
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Mutations in TET2, RUNX1 and JAK2(V617F) are involved in myelodysplastic and/or myeloproliferative s... DisGeNET Detail
AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelof... DisGeNET Detail
These results indicated the significance of RUNX1 for androgen-dependency and that loss of RUNX1 cou... DisGeNET Detail
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MiR-302b functions as a tumor suppressor in EOC by targeting RUNX1 and modulating the activity of th... DisGeNET Detail
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Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one c... DisGeNET Detail
AML1 mRNA expression was elevated in patients with PV, essential thrombocythemia, and primary myelof... DisGeNET Detail
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Acute multilineage (B/myeloid) leukemia with RUNX1 duplication/amplification and hypereosinophilia. DisGeNET Detail
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Further investigation into the clinical and biological significance of elevated MN1 expression in TE... DisGeNET Detail
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Here, we show that Runx1;Runx3 double-knockout (DKO) mice exhibited lethal phenotypes due to bone ma... DisGeNET Detail
In mouse models, class I mutations such as the Bcr-Abl fusion kinase induce MPN by themselves and so... DisGeNET Detail
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We report here a multicentre retrospective study of 157 patients treated with AZA for AML/MDS with c... DisGeNET Detail
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In accordance with our observation that increased expression of miR-126 is associated with unfavorab... DisGeNET Detail
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We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndro... DisGeNET Detail
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We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndro... DisGeNET Detail
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Copy number genome alterations are associated with treatment response and outcome in relapsed childh... DisGeNET Detail
We have addressed the issue in the context of TEL-AML1-associated acute lymphoblastic leukemia (ALL)... DisGeNET Detail
Through a novel approach combining gene expression and interactome data analysis, we provide new ins... DisGeNET Detail
We reasoned that shared clonal rearrangements of IG or TCR genes by concordant ALL in twins would be... DisGeNET Detail
Heterogeneity of Abnormal RUNX1 Leading to Clinicopathologic Variations in Childhood B-Lymphoblastic... DisGeNET Detail
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Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet d... DisGeNET Detail
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Somatic mutation of RUNX1 is implicated in various hematological malignancies, including myelodyspla... DisGeNET Detail
Currently, Clinical Laboratory Improvement Amendments-approved testing exists for the following: fam... DisGeNET Detail
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The novelty of this study is dual.On the one hand, miRNAs (e.g. miR-17) can mimic the effects of CBF... DisGeNET Detail
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The fourth clonal group (including IDH1 and RUNX1) was acquired at sAML transformation and was predo... DisGeNET Detail
The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas th... DisGeNET Detail
The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas th... DisGeNET Detail
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Meta-analysis of SLC22A4 and RUNX1 polymorphisms : Associations with rheumatoid arthritis susceptibi... DisGeNET Detail
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Whole-exome sequencing confirmation of a novel heterozygous mutation in RUNX1 in a pregnant woman wi... DisGeNET Detail
Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet d... DisGeNET Detail
We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndro... DisGeNET Detail
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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
rs10828317 dbSNP
Genome
hg19
Position
chr21:36,160,098-36,421,641
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Transcript 1 (CIViC Variant)
ENST00000300305.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/155
Summary (CIViC Variant)
RUNX1 mutations are associated with poor prognosis in patients with acute myeloid leukemia or adult T-cell acute lymphocytic leukemia. In younger (<60 years old) AML patients, allogeneic stem cell transplant at complete remission led to much better relapse-free survival than repetitive cycles of high-dose cytarabine.
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