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: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASDB A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423 2014
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423 2014
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASDB A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697 2009
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 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: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.060 GeneticVariation group BEFREE The HDAC inhibitor Givinostat modulates the hematopoietic transcription factors NFE2 and C-MYB in JAK2(V617F) myeloproliferative neoplasm cells. 22579713 2012
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.030 GeneticVariation disease BEFREE Here we show that NF-E2 expression is also increased in patients with essential thrombocythemia and primary myelofibrosis independent of the presence of the JAK2(V617F) mutation. 20339092 2010
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.030 GeneticVariation disease BEFREE These result in truncated NF-E2 proteins that enhance wild-type (WT) NF-E2 function and cause erythrocytosis and thrombocytosis in a murine model. 23589569 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE These myelosarcomas and leukemias acquired AML-specific alterations, including the murine equivalent of trisomy 8, loss of the AML commonly deleted region on chromosome 5q, and mutations in the tumor suppressor <i>Trp53</i> Our data show that mutations in NFE2 predispose to the acquisition of secondary changes promoting the development of myelosarcoma and/or AML. 30755419 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 GeneticVariation phenotype BEFREE Mice deficient in NFE2 develop severe thrombocytopenia with lethality resulting from neonatal hemorrhage. 30504234 2018
CUI: C0023418
Disease: leukemia
leukemia 		0.010 GeneticVariation disease BEFREE These myelosarcomas and leukemias acquired AML-specific alterations, including the murine equivalent of trisomy 8, loss of the AML commonly deleted region on chromosome 5q, and mutations in the tumor suppressor <i>Trp53</i> Our data show that mutations in NFE2 predispose to the acquisition of secondary changes promoting the development of myelosarcoma and/or AML. 30755419 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation disease BEFREE These myelosarcomas and leukemias acquired AML-specific alterations, including the murine equivalent of trisomy 8, loss of the AML commonly deleted region on chromosome 5q, and mutations in the tumor suppressor <i>Trp53</i> Our data show that mutations in NFE2 predispose to the acquisition of secondary changes promoting the development of myelosarcoma and/or AML. 30755419 2019
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 GeneticVariation disease BEFREE These 14 markers, as well as the previously described PRV1 and NF-E2, exhibited the same gene expression alterations also in patients with exogenously activated granulocytes due to sepsis or granulocyte colony-stimulating factor (G-CSF) treatment. 16081684 2005
CUI: C0152276
Disease: Granulocytic Sarcoma
Granulocytic Sarcoma 		0.010 GeneticVariation disease BEFREE These myelosarcomas and leukemias acquired AML-specific alterations, including the murine equivalent of trisomy 8, loss of the AML commonly deleted region on chromosome 5q, and mutations in the tumor suppressor <i>Trp53</i> Our data show that mutations in NFE2 predispose to the acquisition of secondary changes promoting the development of myelosarcoma and/or AML. 30755419 2019
CUI: C0234213
Disease: Sensory denervation disorder
Sensory denervation disorder 		0.010 GeneticVariation phenotype BEFREE Temporary ischemic deafferentation had a significant effect on SSEPs (main effect of time), with an increase in the P25 (p = 0.013) and the P45 amplitude (p = 0.005), together with a reduction of the P90 amplitude (p = 0.002). 30346981 2018
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 GeneticVariation disease BEFREE These 14 markers, as well as the previously described PRV1 and NF-E2, exhibited the same gene expression alterations also in patients with exogenously activated granulocytes due to sepsis or granulocyte colony-stimulating factor (G-CSF) treatment. 16081684 2005
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		0.010 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: C4721505
Disease: Sarcoma, Myeloid
Sarcoma, Myeloid 		0.010 GeneticVariation disease BEFREE These myelosarcomas and leukemias acquired AML-specific alterations, including the murine equivalent of trisomy 8, loss of the AML commonly deleted region on chromosome 5q, and mutations in the tumor suppressor <i>Trp53</i> Our data show that mutations in NFE2 predispose to the acquisition of secondary changes promoting the development of myelosarcoma and/or AML. 30755419 2019
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: 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 Biomarker disease BEFREE Results of NFE2 and calreticulin immunohistochemistry of MPN TMAs are consistent with previously published data. 27544663 2017