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: rs1057519922
rs1057519922
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease:
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553487942
rs1553487942
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease:
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553487947
rs1553487947
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease:
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553488015
rs1553488015
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease:
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1553488015
rs1553488015
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0009402
Disease:
Colorectal Carcinoma 		T 0.700 GeneticVariation CLINVAR
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: rs34468415
rs34468415
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs35284526
rs35284526
Entrez Id: 4780;100422824
Gene Symbol: NFE2L2;MIR3128
NFE2L2;MIR3128
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs750553272
rs750553272
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0279671
Disease:
Cervical Squamous Cell Carcinoma 		0.010 GeneticVariation BEFREE A novel KEAP1 missense somatic mutation (c.1408C>T, p.R470C) and 5 NRF2 missense somatic mutations (c.72G>C, p.W24C; c.85G>T, p.D29Y; c.101G>A, p.R34Q; c.230A>C, p.D77A and c.242G>A p.G81D) were identified in 187 patients with cervical squamous cell carcinoma, respectively; no mutations were detected in other subtypes. 30058679 2018
dbSNP: rs6726395
rs6726395
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0034067
Disease:
Pulmonary Emphysema 		0.010 GeneticVariation BEFREE A Polymorphism rs6726395 in Nrf2 Contributes to the Development of Emphysema-Associated Age in Smokers Without COPD. 31297601 2019
dbSNP: rs1057519922
rs1057519922
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease:
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201 2017
dbSNP: rs1553487942
rs1553487942
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease:
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201 2017
dbSNP: rs1553487947
rs1553487947
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease:
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201 2017
dbSNP: rs1553488015
rs1553488015
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4540293
Disease:
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. 29018201 2017
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE Among the 7 tumor samples, an SNP on exon 5 of the Nrf2 gene in one tumor and three genotypes (C/C, C/A, and A/A) of rs6721961 at the promoter region of the Nrf2 gene were observed. 29983865 2018
dbSNP: rs750553272
rs750553272
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007847
Disease:
Malignant tumor of cervix 		0.010 GeneticVariation BEFREE Among these mutations, the KEAP1 (p.R470C) and 3 NRF2 mutations (p.D29Y, p.D77A, and p.G81D) were detected in cervical cancer for the first time. 30058679 2018
dbSNP: rs750553272
rs750553272
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C4048328
Disease:
cervical cancer 		0.010 GeneticVariation BEFREE Among these mutations, the KEAP1 (p.R470C) and 3 NRF2 mutations (p.D29Y, p.D77A, and p.G81D) were detected in cervical cancer for the first time. 30058679 2018
dbSNP: rs750553272
rs750553272
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0302592
Disease:
Cervix carcinoma 		0.010 GeneticVariation BEFREE Among these mutations, the KEAP1 (p.R470C) and 3 NRF2 mutations (p.D29Y, p.D77A, and p.G81D) were detected in cervical cancer for the first time. 30058679 2018
dbSNP: rs35248500
rs35248500
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0010068
Disease:
Coronary heart disease 		0.010 GeneticVariation BEFREE Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR-A2756G) may increase the risk of CHD. 23701284 2013
dbSNP: rs35652124
rs35652124
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE Cox proportional hazard analysis adjusted for age, HD duration, diabetes and Kt/V demonstrated that rs35652124 AA carriers showed higher cardiovascular mortality than (GG+GA) carriers. 24904228 2014
dbSNP: rs35652124
rs35652124
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Cox proportional hazard analysis adjusted for age, HD duration, diabetes and Kt/V demonstrated that rs35652124 AA carriers showed higher cardiovascular mortality than (GG+GA) carriers. 24904228 2014
dbSNP: rs746497256
rs746497256
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0001430
Disease:
Adenoma 		0.010 GeneticVariation BEFREE Fruit and vegetable consumption did not protect smokers from adenomas and did not interact with the NQO1 609C>T polymorphism or the NFE2L2 polymorphisms. 18074351 2008
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: 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: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016