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
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: 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: rs12471433
rs12471433
Entrez Id: 4780;100422824
Gene Symbol: NFE2L2;MIR3128
NFE2L2;MIR3128
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs17581525
rs17581525
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0017654
Disease:
Glomerular Filtration Rate
G 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
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: rs35955110
rs35955110
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0017654
Disease:
Glomerular Filtration Rate
C 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs6433657
rs6433657
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
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
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007873
Disease:
Uterine Cervical Neoplasm
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007134
Disease:
Renal Cell Carcinoma
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0149782
Disease:
Squamous cell carcinoma of lung
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007873
Disease:
Uterine Cervical Neoplasm
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007873
Disease:
Uterine Cervical Neoplasm
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016