NFE2L2, nuclear factor, erythroid 2 like 2, 4780

N. diseases: 823; N. variants: 34
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519921
rs1057519921
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0235974
Disease:
Pancreatic carcinoma
0.020 GeneticVariation BEFREE Oncogene-directed increased expression of Nrf2 is a new mechanism for the activation of the Nrf2 antioxidant program, and is evident in primary cells and tissues of mice expressing K-Ras(G12D) and B-Raf(V619E), and in human pancreatic cancer. 21734707 2011
dbSNP: rs1057519921
rs1057519921
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0235974
Disease:
Pancreatic carcinoma
0.020 GeneticVariation BEFREE K-ras<sup>LSL-G12D/+</sup>:: p53<sup>LSL-R172H/+</sup>:: Pdx-1-Cre (KPC) mice are an established model of pancreatic cancer that specifically express mutants of both K-ras and p53 in the pancreas by using Pdx-1-Cre. 28971839 2018
dbSNP: rs1057519921
rs1057519921
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.020 GeneticVariation BEFREE Oncogene-directed increased expression of Nrf2 is a new mechanism for the activation of the Nrf2 antioxidant program, and is evident in primary cells and tissues of mice expressing K-Ras(G12D) and B-Raf(V619E), and in human pancreatic cancer. 21734707 2011
dbSNP: rs1057519921
rs1057519921
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.020 GeneticVariation BEFREE K-ras<sup>LSL-G12D/+</sup>:: p53<sup>LSL-R172H/+</sup>:: Pdx-1-Cre (KPC) mice are an established model of pancreatic cancer that specifically express mutants of both K-ras and p53 in the pancreas by using Pdx-1-Cre. 28971839 2018
dbSNP: rs587778556
rs587778556
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0949664
Disease:
Tauopathies
0.020 GeneticVariation BEFREE In this study, we examined whether BFT confers neuroprotection against tau phosphorylation and the generation of neurofibrillary tangles (NFTs) in the P301S mouse model of tauopathy. 29860433 2018
dbSNP: rs587778556
rs587778556
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0949664
Disease:
Tauopathies
0.020 GeneticVariation BEFREE The present study examined the effects of MB in the P301S mouse model of tauopathy. 24556215 2014
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE In excellent agreement with this finding, we found that minor A/A homozygotes of a single nucleotide polymorphism (SNP) in the human NRF2 upstream promoter region (rs6721961) exhibited significantly diminished NRF2 gene expression and, consequently, an increased risk of lung cancer, especially those who had ever smoked. 23572560 2013
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE We prepared genomic DNA samples from 387 Japanese patients with primary lung cancer and detected SNP (c.-617C>A; rs6721961) in the ARE-like loci of the human NRF2 gene by the rapid genetic testing method we developed in this study. 24040073 2013
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE We prepared genomic DNA samples from 387 Japanese patients with primary lung cancer and detected SNP (c.-617C>A; rs6721961) in the ARE-like loci of the human NRF2 gene by the rapid genetic testing method we developed in this study. 24040073 2013
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE In excellent agreement with this finding, we found that minor A/A homozygotes of a single nucleotide polymorphism (SNP) in the human NRF2 upstream promoter region (rs6721961) exhibited significantly diminished NRF2 gene expression and, consequently, an increased risk of lung cancer, especially those who had ever smoked. 23572560 2013
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE In excellent agreement with this finding, we found that minor A/A homozygotes of a single nucleotide polymorphism (SNP) in the human NRF2 upstream promoter region (rs6721961) exhibited significantly diminished NRF2 gene expression and, consequently, an increased risk of lung cancer, especially those who had ever smoked. 23572560 2013
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE We prepared genomic DNA samples from 387 Japanese patients with primary lung cancer and detected SNP (c.-617C>A; rs6721961) in the ARE-like loci of the human NRF2 gene by the rapid genetic testing method we developed in this study. 24040073 2013
dbSNP: rs755135182
rs755135182
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0949664
Disease:
Tauopathies
0.020 GeneticVariation BEFREE In this study, we examined whether BFT confers neuroprotection against tau phosphorylation and the generation of neurofibrillary tangles (NFTs) in the P301S mouse model of tauopathy. 29860433 2018
dbSNP: rs755135182
rs755135182
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0949664
Disease:
Tauopathies
0.020 GeneticVariation BEFREE The present study examined the effects of MB in the P301S mouse model of tauopathy. 24556215 2014
dbSNP: rs774072476
rs774072476
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE Genome-wide microarray analysis of the differential neuroprotective effects of antioxidants in neuroblastoma cells overexpressing the familial Parkinson's disease alpha-synuclein A53T mutation. 19649707 2010
dbSNP: rs774072476
rs774072476
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0030567
Disease:
Parkinson Disease
0.020 GeneticVariation BEFREE A53T missense mutations in the SNCA gene has been proved to enhance the expression of SNCA and accelerate the onset of PD. 30080657 2018
dbSNP: rs10497511
rs10497511
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The data suggest that although NFE2L2 rs2364723, rs10497511, rs1962142 and rs6726395 were not associated with T2DM risk, they were significantly associated with complications of T2DM. 27374075 2016
dbSNP: rs1057519921
rs1057519921
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Furthermore, genetic targeting of the Nrf2 pathway impairs K-Ras(G12D)-induced proliferation and tumorigenesis in vivo. 21734707 2011
dbSNP: rs1185894299
rs1185894299
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE The association between both c.351T>A and c.423G>T and PD</span> was further confirmed in an independent case-control cohort consisting of 210 individuals with PD and 148 normal controls. 26887053 2016
dbSNP: rs1434704960
rs1434704960
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE Taken together, our results confirmed that TDP-43-M337V impaired the Nrf2/ARE pathway by reducing the expression of MafK and JDP2 proteins, and provided information for further research on the molecular mechanisms of TDP-43-M337V in ALS. 28510254 2017
dbSNP: rs1469602964
rs1469602964
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE The association between both c.351T>A and c.423G>T and PD</span> was further confirmed in an independent case-control cohort consisting of 210 individuals with PD and 148 normal controls. 26887053 2016
dbSNP: rs1806649
rs1806649
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE Minor allele carriers of rs1806649 had a markedly reduced COPD mortality: HR = 0.3 (95% CI: 0.1-0.9). 24790085 2014
dbSNP: rs1962142
rs1962142
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The data suggest that although NFE2L2 rs2364723, rs10497511, rs1962142 and rs6726395 were not associated with T2DM risk, they were significantly associated with complications of T2DM. 27374075 2016
dbSNP: rs2364723
rs2364723
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE In addition, only for rs2364723 higher serum HMOX1 levels were found in the T2DM patients with CG+CC than those with GG genotype. 27374075 2016
dbSNP: rs2364725
rs2364725
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE We employed a haplotype-tagging approach that identified an association with the tagging SNP rs2364725 and PD (OR = 0.849 (0.760-0.948), P = 0.004). 26010367 2015