RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease BEFREE Acute myeloid leukemia with t(8;21)(q22;q22.1)/RUNX1-RUNX1T1 and KIT Exon 8 mutation is associated with characteristic mastocytosis and dismal outcomes. 31004601 2019
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease BEFREE Ezh2 and Runx1 Mutations Collaborate to Initiate Lympho-Myeloid Leukemia in Early Thymic Progenitors. 29438697 2018
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease BEFREE RUNX1 translocations result in the development of myeloid leukemias. 28926105 2018
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease BEFREE RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM). 28637620 2017
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease BEFREE Acute multilineage (B/myeloid) leukemia with RUNX1 duplication/amplification and hypereosinophilia. 24912843 2014
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE A role for RUNX1 in hematopoiesis and myeloid leukemia. 23613270 2013
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease BEFREE The t(15;17) which generates PML-RARα, t(8;21) that produces AML1-ETO, and t(9;22) which generates BCR-ABL are the three most frequently seen chromosomal translocations in myeloid leukemia. 22714999 2012
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE This activating (or derepressing) effect of AML1/ETO may contribute to its oncogenic potential in myeloid leukemia. 18332109 2008
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease LHGDN p53 signaling in response to increased DNA damage sensitizes AML1-ETO cells to stress-induced death. 17975013 2008
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 AlteredExpression disease BEFREE Concomitant aberrant overexpression of RUNX1 and NCAM in regenerating bone marrow of myeloid leukemia of Down's syndrome. 17043020 2006
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 AlteredExpression disease BEFREE Gene translocations that repress the function of the Runx1 transcription factor play a critical role in the development of myeloid leukemia. 16007221 2005
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE This mouse model may be useful for analysing the pathogenesis of myeloid leukemias with RUNX1 overdose, especially to examine whether an extra-copy of RUNX1 by trisomy 21 is causally related to Down's syndrome-related acute megakaryoblastic leukemia (DS-AMKL). 15856017 2005
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease BEFREE High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. 14615365 2004
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 AlteredExpression disease BEFREE Thus, the function of PU.1 is down-regulated by AML1-ETO in t(8;21) myeloid leukemia, whereas overexpression of PU.1 restores normal differentiation. 12393465 2003
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 GeneticVariation disease BEFREE Acute myeloid leukemia with t(8;21)/AML1/ETO: a distinct biological and clinical entity. 11869944 2002
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE Our results provide direct evidence that AML1-ETO is critical for causing myeloid leukemia, but one or more additional mutations are required for leukemogenesis. 11526243 2001
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE These results indicate that specific HDAc inhibitors may be useful in the treatment of Evi-1-induced neoplastic tumors, including myeloid leukemias. 11587364 2001
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE AML1-ETO downregulates the granulocytic differentiation factor C/EBPalpha in t(8;21) myeloid leukemia. 11283671 2001
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 AlteredExpression disease BEFREE Constitutive expression of Evi-1 in hematopoietic cells, which is caused by retroviral insertions or chromosomal translocations and inversions, is closely associated with myelogenous leukemias and myelodysplastic syndromes in mice and humans. 10641791 1999
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE We have therefore determined the frequency of the TEL/AML1 fusion in pediatric myeloid leukemias by RT-PCR analysis. 9652733 1998
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE AML1, a gene on chromosome 21 encoding a transcription factor, is disrupted in the (8;21)(q22;q22) and (3;21)(q26;q22) chromosomal translocations associated with myelogenous leukemias; as a result, chimeric proteins AML1/ETO(MTG8) and AML1/Evi-1 are generated, respectively. 9473235 1998
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE CBFA2 forms a fusion gene with ETO and MDS1/EVI1 in translocations in myeloid leukemia and with ETV6(TEL) in the t(12;21) common in childhood pre-B acute lymphoblastic leukemia. 9763573 1998
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE The AML1 gene on chromosome 21 is disrupted in the (8;21)(q22;q22) and (3;21)(q26;q22) translocations associated with myelogenous leukemias and encodes a DNA-binding protein. 9209372 1997
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE MTG8 is a counterpart gene of AML1 in acute myeloid leukemia with t(8:21) translocation. 9209371 1997
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.100 Biomarker disease BEFREE This translocation results in the fusion of TEL, a recently described ETS-like gene on 12p13, and AML1, which was shown to be involved in the formation of fusion genes with ETO and EVI1 in myeloid leukemias. 9498702 1997