NFE2L2, nuclear factor, erythroid 2 like 2, 4780

N. diseases: 823; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.600 CausalMutation disease CGI
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.440 CausalMutation disease CGI
CUI: C4540293
Disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.400 CausalMutation disease CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.200 GeneticVariation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.100 Biomarker group HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.100 Biomarker group HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		0.100 Biomarker phenotype HPO
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.100 Biomarker disease BEFREE We report here that activation of the NQO1 ARE by tert-butylhydroquinone (tBHQ) is dependent on Nrf2 and not oxidative stress in IMR-32 human neuroblastoma cells. 11162512 2001
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.100 Biomarker disease BEFREE We report here that activation of the NQO1 ARE by tert-butylhydroquinone (tBHQ) is dependent on Nrf2 and not oxidative stress in IMR-32 human neuroblastoma cells. 11162512 2001
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.100 Biomarker disease BEFREE We report here that activation of the NQO1 ARE by tert-butylhydroquinone (tBHQ) is dependent on Nrf2 and not oxidative stress in IMR-32 human neuroblastoma cells. 11162512 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.500 Biomarker disease BEFREE In the present study, we investigated the transcriptional levels of NAD(P)H:quinone oxidoreductase 1 (NQO1) and heme oxygenase 1 (HO1) genes, the reporter activity mediated by antioxidant response element (ARE), and the protein level of transcription factor nuclear factor E2-related factor 2 (Nrf2), after administration of three major garlic OSCs--diallyl sulfide (DAS), diallyl disulfide (DADS), and diallyl trisulfide (DATS)--in human hepatoma HepG2 cells. 15477009 2004
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.370 Biomarker group BEFREE In the present study, we investigated the transcriptional levels of NAD(P)H:quinone oxidoreductase 1 (NQO1) and heme oxygenase 1 (HO1) genes, the reporter activity mediated by antioxidant response element (ARE), and the protein level of transcription factor nuclear factor E2-related factor 2 (Nrf2), after administration of three major garlic OSCs--diallyl sulfide (DAS), diallyl disulfide (DADS), and diallyl trisulfide (DATS)--in human hepatoma HepG2 cells. 15477009 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Keap1-dependent ubiquitination of Nrf2 is inhibited following exposure of cells to quinone-induced oxidative stress and sulforaphane, a cancer-preventive isothiocyanate. 15572695 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE A strategy for cancer prevention: stimulation of the Nrf2-ARE signaling pathway. 15252150 2004
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.100 Biomarker disease BEFREE These results together suggest that NO signals the transcriptional up-regulation of NQO1 and other detoxifying enzyme and protective genes through Nrf2 via the ARE to counteract NO-induced apoptosis of neuroblastoma cells. 14985350 2004
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.100 Biomarker disease BEFREE The responsiveness of the Nrf2 pathway may act as a major determinant of susceptibility to tobacco smoke-induced emphysema by upregulating antioxidant defenses and decreasing lung inflammation and alveolar cell apoptosis. 15520857 2004