EBF1, EBF transcription factor 1, 1879

N. diseases: 87; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma 		0.010 Biomarker disease BEFREE In contrast, the EBF site acted synergistically with a decamer element in EBF-negative plasmacytoma cells, but not in B cells of an earlier differentiation stage. 8621915 1996
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 AlteredExpression disease BEFREE To investigate this selectivity in target gene activation we compared the overall gene expression patterns by micro-array analysis and expression of target genes for the transcription factor EBF in lymphoma and neuroblastoma cells by RT-PCR. 15544702 2004
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 AlteredExpression disease BEFREE To investigate this selectivity in target gene activation we compared the overall gene expression patterns by micro-array analysis and expression of target genes for the transcription factor EBF in lymphoma and neuroblastoma cells by RT-PCR. 15544702 2004
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 AlteredExpression disease BEFREE To investigate this selectivity in target gene activation we compared the overall gene expression patterns by micro-array analysis and expression of target genes for the transcription factor EBF in lymphoma and neuroblastoma cells by RT-PCR. 15544702 2004
CUI: C0023418
Disease: leukemia
leukemia 		0.050 AlteredExpression disease BEFREE Through the use of novel biological network analyses, essential regulators of early B cell development, PAX5 and EBF, were shown to be associated with a clear B-lineage commitment in lymphoblastic t(11q23)/MLL leukemias. 15815718 2005
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 GeneticVariation disease LHGDN Our data support EBF1 gene association with MS pathogenesis in the Spanish white population. 16255771 2005
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 Biomarker disease BEFREE Our data support EBF1 gene association with MS pathogenesis in the Spanish white population. 16255771 2005
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE In this work we aimed at testing the Early B-cell Factor (EBF1) gene as a functional and positional candidate risk factor for this neurological disease. 16255771 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE The combined data indicate that the pathogenetically significant event is fusion, truncation or transcriptional activation of HMGA2, but it can not be excluded that EBF, which has been implicated in adipogenesis, contributes to the tumor development. 16276091 2006
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.060 GeneticVariation disease BEFREE EBF1 and IKZF1 deletions were particularly frequent in this relapsed ALL cohort (25.0% and 35.0%, respectively), suggesting their role in disease recurrence. 18768390 2008
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.200 Biomarker disease MGD Ebf1-dependent control of the osteoblast and adipocyte lineages. 19130908 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE For four genes (IGF2, EBF1, CDH1 and HER2) there was no statistically significant difference between the tumour and control groups. 20015323 2010
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.060 Biomarker disease BEFREE Our findings suggest a model whereby small perturbations in a self-reinforcing network of transcription factors critical for B cell development, specifically PAX5 and EBF1, cooperate with STAT5 activation to initiate ALL. 21606506 2011
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.060 Biomarker disease BEFREE Our findings suggest a model whereby small perturbations in a self-reinforcing network of transcription factors critical for B cell development, specifically PAX5 and EBF1, cooperate with STAT5 activation to initiate ALL. 21606506 2011
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.050 Biomarker disease BEFREE Our findings suggest a model whereby small perturbations in a self-reinforcing network of transcription factors critical for B cell development, specifically PAX5 and EBF1, cooperate with STAT5 activation to initiate ALL. 21606506 2011
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.020 Biomarker disease BEFREE Ebf1 or Pax5 haploinsufficiency synergizes with STAT5 activation to initiate acute lymphoblastic leukemia. 21606506 2011
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.010 Biomarker disease BEFREE EBF1, BLK and TNFSF4 are all involved in B-cell differentiation and activation, and we conclude that polymorphisms in several susceptibility genes in the immune system contribute to the pathogenesis of primary SS. 20861858 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.060 GeneticVariation disease BEFREE To determine the prevalence and prognostic impact of significant acute lymphoblastic leukemia (ALL) -related genes: CRLF2 deregulation (CRLF2-d), IGH@ translocations (IGH@-t), and deletions of CDKN2A/B, IKZF1, PAX5, ETV6, RB1, BTG1, and EBF1 in adolescents and adults. 22851563 2012
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.060 GeneticVariation disease BEFREE To determine the prevalence and prognostic impact of significant acute lymphoblastic leukemia (ALL) -related genes: CRLF2 deregulation (CRLF2-d), IGH@ translocations (IGH@-t), and deletions of CDKN2A/B, IKZF1, PAX5, ETV6, RB1, BTG1, and EBF1 in adolescents and adults. 22851563 2012
CUI: C0023418
Disease: leukemia
leukemia 		0.050 Biomarker disease BEFREE Lentiviral vector induced insertional haploinsufficiency of Ebf1 causes murine leukemia. 22472950 2012
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.050 GeneticVariation disease BEFREE To determine the prevalence and prognostic impact of significant acute lymphoblastic leukemia (ALL) -related genes: CRLF2 deregulation (CRLF2-d), IGH@ translocations (IGH@-t), and deletions of CDKN2A/B, IKZF1, PAX5, ETV6, RB1, BTG1, and EBF1 in adolescents and adults. 22851563 2012
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.030 Biomarker disease BEFREE Lentiviral vector induced insertional haploinsufficiency of Ebf1 causes murine leukemia. 22472950 2012
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.030 Biomarker disease BEFREE We identified four genes with SNPs that showed the strongest and most consistent associations with LDL-C and CAD: EBF1, PPP2R2B, SPOCK1, and PRELID2. 22369142 2012
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		0.010 GeneticVariation phenotype BEFREE We found Bonferroni adjusted (P < 0.0016) significant evidence for association between OH and the EBF1 locus (rs11953630, per-minor-allele odds ratio, 95% confidence interval: 0.90, 0.85-0.96; P = 0.001), and nominal evidence (P < 0.05) for CYP17A1 (rs11191548: 0.85, 0.75-0.95; P = 0.005), and NPR3-C5orf23 (rs1173771: 0.92, 0.87-0.98; P= 0.009) loci. 22504314 2012
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 AlteredExpression disease BEFREE Finally, we identified deregulated proteins, including EBF1 and KLF transcription factors, that were not detected in previous comparisons of CLL and conventional B cells. 23091163 2012