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
Squamous cell carcinoma of the head and neck
0.440 CausalMutation disease CGI
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
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: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.060 Biomarker phenotype BEFREE "NRF2 addiction" in lung cancer cells and its impact on cancer therapy. 31574294 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.400 Biomarker disease BEFREE <b>Conclusion:</b> The results of our study show the hypoglycemic impact of black truffle on STZ-induced hyperglycemia in rats via Nrf2 and NF-κB pathways, and both pathways have significant improvement that may support the hypoglycemic impact of truffle. 30473664 2018
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.400 AlteredExpression group BEFREE <b>Methods:</b> Electron microscopy, immunohistochemical (IHC) staining, Western blot, and real-time PCR were used to detect the expression of ACSL1and Nrf2 in ORN patients, ob/ob mice and palmitic acid (PA)-treated HK-2 cells. 31488013 2019
Diabetes Mellitus, Insulin-Dependent
0.100 Biomarker disease BEFREE <b>Methods:</b> Lentivirus-mediated Nrf2-KD and WT mice were used to establish type 1 diabetes mellitus (DM) by streptozotocin (STZ) injection. 31244660 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.500 AlteredExpression disease BEFREE <i>Nrf2-lncRNA</i> levels correlated with the recurrence-free postsurgery survival rate of patients with hepatocellular carcinoma. 30897343 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.300 Biomarker disease BEFREE <i>Ex vivo</i> experiments indicated that Nrf-2 and HO-1 expression is reduced in T2DM <i>versus</i> non-T2DM OA cartilage (0.57-fold Nrf-2 and 0.34-fold HO-1), and prostaglandin E<sub>2</sub> (PGE<sub>2</sub>) release was increased in samples with low HO-1 expression. 28684418 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.100 AlteredExpression disease BEFREE <i>Ex vivo</i> experiments indicated that Nrf-2 and HO-1 expression is reduced in T2DM <i>versus</i> non-T2DM OA cartilage (0.57-fold Nrf-2 and 0.34-fold HO-1), and prostaglandin E<sub>2</sub> (PGE<sub>2</sub>) release was increased in samples with low HO-1 expression. 28684418 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.400 Biomarker disease BEFREE <i>In vitro</i> experiments in rat macrophages showed that hyperglycemia treatment suppresses Nrf2 activation, resulting in oxidative stress with decreased expression of antioxidant genes, including NAD(P)H:quinone oxidoreductase 1 and heme oxygenase 1, together with increased secretion of proinflammatory cytokines, including interleukin 1β (IL1β), IL6, and monocyte chemoattractant protein-1. 31616304 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 Biomarker disease BEFREE <i>KEAP1</i> silencing by promoter methylation is widely reported in solid tumors as part of the complex regulation of the KEAP1/NRF2 axis, but its prognostic role remains to be addressed in lung cancer. 31159323 2019