PBX1, PBX homeobox 1, 5087

N. diseases: 167; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.500 Biomarker disease CTD_human B-cell development fails in the absence of the Pbx1 proto-oncogene. 17244677 2007
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.500 Biomarker disease CTD_human Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor. 1967982 1990
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.500 FusionGene disease ORPHANET
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
0.410 GeneticVariation disease BEFREE PBX1 is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterised by multiple congenital defects including congenital heart disease. 31625560 2019
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
0.410 Biomarker disease GENOMICS_ENGLAND PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. 28270404 2017
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
0.410 CausalMutation disease CLINVAR
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY
0.410 GeneticVariation disease CLINVAR
Precursor B-cell lymphoblastic leukemia
0.400 GeneticVariation disease BEFREE Flow cytometric predictive scoring systems for common fusions ETV6/RUNX1, BCR/ABL1, TCF3/PBX1 and rearrangements of the KMT2A gene, proposed for the initial cytogenetic approach in cases of B-acute lymphoblastic leukemia. 30730614 2019
Precursor B-cell lymphoblastic leukemia
0.400 AlteredExpression disease BEFREE Moreover, the binding of the E2A-PBX1 chimeric protein to the <i>BAFFR</i> promoter suggests that the transcriptional activator promotes the increase in <i>BAFFR</i> expression observed in about 50% of pre-B-ALL patients carrying the <i>t</i><sub>(1, 19)</sub> translocation. 31380267 2019
Precursor B-cell lymphoblastic leukemia
0.400 AlteredExpression disease BEFREE The prognostic role of E2A-PBX1 expression detected by real-time quantitative reverse transcriptase polymerase chain reaction (RQ-PCR) in B cell acute lymphoblastic leukemia after allogeneic hematopoietic stem cell transplantation. 29705861 2018
Precursor B-cell lymphoblastic leukemia
0.400 Biomarker disease BEFREE NGS-based methylation profiling differentiates TCF3-HLF and TCF3-PBX1 positive B-cell acute lymphoblastic leukemia. 29334255 2018
Precursor B-cell lymphoblastic leukemia
0.400 Biomarker disease BEFREE The outcomes of patients with t(1;19)/TCF3-PBX1 were compared to that of patients with other subtypes of B-precursor ALL (B-ALL). 28436581 2017
Precursor B-cell lymphoblastic leukemia
0.400 AlteredExpression disease BEFREE Additional experiments revealed that uc.38 negatively regulated the expression of the pre-B-cell leukaemia homeobox 1 (PBX1) protein and subsequently affected the expression of Bcl-2 family members, ultimately inducing breast cancer cell apoptosis. 29312798 2017
Precursor B-cell lymphoblastic leukemia
0.400 Biomarker disease BEFREE In this study, we describe remodeling of signaling networks by E2A-PBX1 in pre-B-ALL, which results in hyperactivation of the key oncogenic effector enzyme PLCγ2. 27758892 2016
Precursor B-cell lymphoblastic leukemia
0.400 GeneticVariation disease BEFREE When intensive chemotherapy was used, the TCF3-PBX1 was associated with a favorable outcome in childhood pre-B ALL. 25551271 2015
Precursor B-cell lymphoblastic leukemia
0.400 Biomarker disease BEFREE Autophagy collaborates with ubiquitination to downregulate oncoprotein E2A/Pbx1 in B-cell acute lymphoblastic leukemia. 25615280 2015
Precursor B-cell lymphoblastic leukemia
0.400 AlteredExpression disease BEFREE Rational design of an immunoconjugate for selective knock-down of leukemia-specific E2A-PBX1 fusion gene expression in human Pre-B leukemia. 22990208 2013
Precursor B-cell lymphoblastic leukemia
0.400 Biomarker disease BEFREE In particular, E2A-PBX1 silencing affected the EB-1 gene, which encodes for a protein that could contribute to the transformed phenotype of pre-B ALL. 16769578 2006
Precursor B-cell lymphoblastic leukemia
0.400 Biomarker disease BEFREE Allogeneic stem cell transplantation improves the outcome of adults with t(1;19)/E2A-PBX1 and t(4;11)/MLL-AF4 positive B-cell acute lymphoblastic leukemia: results of the prospective multicenter LALA-94 study. 17039234 2006
Precursor B-cell lymphoblastic leukemia
0.400 Biomarker disease BEFREE The t(1;19) translocation of pre-B cell acute lymphocytic leukemia (ALL) produces E2a-Pbx1, a chimeric oncoprotein containing the transactivation domains of E2a joined to the homeodomain protein, Pbx1. 10490826 1999
Precursor B-cell lymphoblastic leukemia
0.400 GeneticVariation disease BEFREE Chimeric E2A-PBX1 transcripts generated by the t(1;19) were found in only two of the 87 B-precursor ALL analyzed. 9172811 1996
Precursor B-cell lymphoblastic leukemia
0.400 Biomarker disease BEFREE To address the utility of RT-PCR analysis towards the detection of mRNA associated with specific gene alterations in such specimens, a primer pair for amplification of the E2A-PBX1 fusion cDNA was used in PCRs of RT cDNAs for each of the 23 specimens, three of which were pre-B-cell acute lymphoblastic leukemias known to have the t(1;19) karyotype alteration resulting in the fusion of the E2A and PBX1 genes. 8483891 1993
Precursor B-cell lymphoblastic leukemia
0.400 GeneticVariation disease BEFREE E2A-Pbx1, the t(1;19) translocation protein of human pre-B-cell acute lymphocytic leukemia, causes acute myeloid leukemia in mice. 8093327 1993
Precursor B-cell lymphoblastic leukemia
0.400 GeneticVariation disease BEFREE Here we described a new fusion site of the E2A and PBX1 genes, which was detected in the leukemic blasts of a child with t(1;19) pre-B ALL using the reverse transcriptase polymerase chain reaction and direct sequencing. 8103813 1993
Precursor B-cell lymphoblastic leukemia
0.400 AlteredExpression disease BEFREE These findings are at variance with a recent report in which expression of the E2A/PBX1 message was linked exclusively to a subset of patients who displayed a cig+ pre-B-cell precursor phenotype of ALL. 8255105 1993