NFE2, nuclear factor, erythroid 2, 4778

N. diseases: 57; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.070 GeneticVariation disease BEFREE Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes. 23538339 2013
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.070 AlteredExpression disease BEFREE One Sp1 target, the transcription factor NF-E2 [nuclear factor (erythroid-derived 2)], is overexpressed 2- to 40-fold in PV patients. 15801966 2005
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.070 Biomarker disease BEFREE Overexpression of transcription factors runt-related transcription factor 1 (RUNX1) and nuclear factor, erythroid-derived 2 (NF-E2) was reported in granulocytes of patients with polycythemia vera and other myeloproliferative neoplasms (MPNs). 24297870 2014
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.070 Biomarker disease BEFREE Silencing NF-E2 in PV patients reverted both aberrancies, demonstrating for the first time that NF-E2 overexpression is both required and sufficient for Epo independence and HSC/CMP expansion in PV. 23341442 2013
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.070 GeneticVariation disease BEFREE Patients with PV who were homozygous or heterozygous for JAK2-V617F exhibited higher levels of expression of the 13 new markers, PRV1, and NF-E2 than patients without JAK2-V617F, whereas ANKRD15 was down-regulated in these patients. 16081684 2005
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.070 GeneticVariation disease BEFREE They include one patient with PV and +9p with three copies of JAK2 and two patients with MDS and JAK2 relocations: one with NF-E2, while the other patient with a TEL/ETV6 rearrangements also had tetrasomy for JAK2. 17976519 2007
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.070 GeneticVariation disease BEFREE Although NF-E2 levels correlate with JAK2(V671F) allele burden in some PV cohorts, the molecular mechanism causing aberrant NF-E2 expression has not been described. 20339092 2010
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.070 AlteredExpression disease BEFREE In murine models, elevated NFE2 levels cause an MPN phenotype with spontaneous leukemic transformation. 29519804 2018
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.070 AlteredExpression disease BEFREE We report that RUNX1 and NF-E2 overexpression is not specific for MPN; these transcripts were also significantly elevated in polycythemias with augmented hypoxia-inducible factor activity whose erythroid progenitors were hypersensitive to EPO. 24297870 2014
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.070 Biomarker disease BEFREE These data establish a role for NF-E2 in the pathophysiology of MPNs and provide a molecular rationale for investigating epigenetic alterations as novel targets for rationally designed MPN therapies. 22231305 2012
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.070 AlteredExpression disease BEFREE Our data underscore the role of increased NF-E2 activity in the pathophysiology of MPNs. 23589569 2013
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.070 Biomarker disease BEFREE Results of NFE2 and calreticulin immunohistochemistry of MPN TMAs are consistent with previously published data. 27544663 2017
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.070 Biomarker disease BEFREE Modulation by GVS of NFE2 was also observed in freshly isolated CD34(+) cells from MPN patients, and was accompanied by inhibition of their proliferation and differentiation toward the erythroid lineage. 22579713 2012
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.070 AlteredExpression disease BEFREE Our data identify NF-E2 as a novel AML1 target gene and delineate a role for aberrant AML1 expression in mediating elevated NF-E2 expression in MPN patients. 20339092 2010
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.060 Biomarker disease BEFREE Retroviral insertional activation of Fli-1 and Spi-1/PU.1, as well as loss of tumour suppressor genes such as p53 or p45 NFE2 have been shown to be critical for the induction and progression of Friend virus-induced erythroleukemias. 12894591 2003
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.060 Biomarker disease BEFREE Using a chromatin immunoprecipitation assay, we provide evidence for NF-E2 binding directly and specifically to HS2 in living erythroleukemia cells and in mouse fetal liver. 10891470 2000
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.060 Biomarker disease BEFREE This site is occupied by transcription factors USF1, USF2, EGR1, MafK, and NF-E2 in the human erythroleukemia cell line K562 and exhibits histone modifications typical for enhancers. 30012865 2018
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.060 AlteredExpression disease BEFREE JNK-mediated turnover and stabilization of the transcription factor p45/NF-E2 during differentiation of murine erythroleukemia cells. 19966288 2010
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.060 Biomarker disease BEFREE The mechanism of NF-E2-mediated chromatin modification was investigated by complementation analysis in NF-E2-null CB3 erythroleukemia cells. 14597626 2004
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.060 AlteredExpression disease BEFREE This analysis indicates that binding sites for the hematopoietic transcription factors NF-E2 and GATA-1 are required for the formation of the characteristic chromatin structure of the HS following stable transfection into murine erythroleukemia cells. 7828582 1995
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.050 Biomarker disease BEFREE Using a chromatin immunoprecipitation assay, we provide evidence for NF-E2 binding directly and specifically to HS2 in living erythroleukemia cells and in mouse fetal liver. 10891470 2000
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.050 AlteredExpression disease BEFREE This analysis indicates that binding sites for the hematopoietic transcription factors NF-E2 and GATA-1 are required for the formation of the characteristic chromatin structure of the HS following stable transfection into murine erythroleukemia cells. 7828582 1995
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.050 Biomarker disease BEFREE This site is occupied by transcription factors USF1, USF2, EGR1, MafK, and NF-E2 in the human erythroleukemia cell line K562 and exhibits histone modifications typical for enhancers. 30012865 2018
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.050 Biomarker disease BEFREE The mechanism of NF-E2-mediated chromatin modification was investigated by complementation analysis in NF-E2-null CB3 erythroleukemia cells. 14597626 2004
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.050 AlteredExpression disease BEFREE JNK-mediated turnover and stabilization of the transcription factor p45/NF-E2 during differentiation of murine erythroleukemia cells. 19966288 2010