NRF1, nuclear respiratory factor 1, 4899

N. diseases: 74; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.010 Biomarker group BEFREE These analyses should be useful in evaluating the potential role of NRF-1 in mitochondrial diseases resulting from defects in the nuclear control of mitochondrial function. 7629110 1995
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 Biomarker disease BEFREE Interaction of the transcription factors USF1, USF2, and alpha -Pal/Nrf-1 with the FMR1 promoter. Implications for Fragile X mental retardation syndrome. 11058604 2001
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 AlteredExpression disease BEFREE We demonstrate that insulin resistance and DM associate with reduced expression of multiple nuclear respiratory factor-1 (NRF-1)-dependent genes encoding key enzymes in oxidative metabolism and mitochondrial function. 12832613 2003
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 Biomarker group BEFREE Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role of PGC1 and NRF1. 12832613 2003
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role of PGC1 and NRF1. 12832613 2003
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 AlteredExpression disease LHGDN Nuclear respiratory factor 1 plays an essential role in transcriptional initiation from the hepatitis B virus x gene promoter. 15452206 2004
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.050 Biomarker disease BEFREE We found that stable or transient expression of full-length alpha-Pal/NRF-1 in human neuroblastoma IMR-32 cells significantly induced neurite outgrowth and increased the length of neurites both in medium containing 10% fetal bovine serum and in serum-free medium. 15992771 2005
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.050 Biomarker disease BEFREE We found that stable or transient expression of full-length alpha-Pal/NRF-1 in human neuroblastoma IMR-32 cells significantly induced neurite outgrowth and increased the length of neurites both in medium containing 10% fetal bovine serum and in serum-free medium. 15992771 2005
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.050 Biomarker disease BEFREE We found that stable or transient expression of full-length alpha-Pal/NRF-1 in human neuroblastoma IMR-32 cells significantly induced neurite outgrowth and increased the length of neurites both in medium containing 10% fetal bovine serum and in serum-free medium. 15992771 2005
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 GeneticVariation disease BEFREE The NRF1 gene was sequenced to identify polymorphisms in 24 Korean DNA samples and then common variants were genotyped in 766 patients with type 2 diabetes and 303 non-diabetic subjects. 16082529 2005
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		0.200 Biomarker disease RGD Genomic modulation of mitochondrial respiratory genes in the hypertrophied heart reflects adaptive changes in mitochondrial and contractile function. 17704287 2007
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 GeneticVariation disease BEFREE The present study shows an association of SNPs in the NRF1 gene with type 2 diabetes in a Han Chinese population. 18071027 2008
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 GeneticVariation disease BEFREE Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes associations in PPARG, KCNJ11, and SLC2A2; identified significant SNPs in genes with previously reported associations (ENPP1 [rs2021966, P = 0.00026] and NRF1 [rs1882095, P = 0.00096]); and implicated novel genes, including RAPGEF1 (rs4740283, P = 0.00013) and TP53 (rs1042522, Arg72Pro, P = 0.00086), in type 2 diabetes susceptibility. 18678618 2008
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia 		0.200 Biomarker disease RGD Rapidly increased neuronal mitochondrial biogenesis after hypoxic-ischemic brain injury. 18723421 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 Biomarker disease BEFREE Our analysis found that motifs bound by ELK1, E2F, NRF1 and NFY are potential regulatory motifs that positively correlate with malignant progression of breast cancer. 18823535 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 Biomarker disease BEFREE Our analysis found that motifs bound by ELK1, E2F, NRF1 and NFY are potential regulatory motifs that positively correlate with malignant progression of breast cancer. 18823535 2008
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 Biomarker disease BEFREE Oxygen consumption, PGC-1alpha, NRF1 and response to GPA were significantly reduced in myoblasts from HD patients. 19460884 2009
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.030 AlteredExpression disease BEFREE Treatment with GPA significantly increased expression of PGC-1alpha, NRF1, Tfam and downstream genes in the striatum and cerebral cortex of wild-type (WT) mice, but there was no effect on these genes in the HD mice. 20529956 2010
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome 		0.010 AlteredExpression disease BEFREE In mice, activation of Nrf1 and its downstream target, Tfam, by Escherichia coli was contingent on NFκB, and in LPS-treated hepatocytes, NFκB served as an NRF1 enhancer element in conjunction with NFκB promoter binding. 20587593 2010
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 GeneticVariation disease BEFREE We demonstrated that the polymorphism in TP53 (rs1042522) was associated with type 2 diabetes, and that potential interaction of TP53 (rs1042522) and RAPGEF1 (rs11243444), or NRF1 (rs1882095) increased the risk of type 2 diabetes. 21146886 2011
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 GeneticVariation disease BEFREE Interindividual variation involving BIO was most strongly associated with EOC risk (empirical P = 0.050), especially for NRF1, MTERF, PPARGC1A, ESRRA, and CAMK2D. 21447778 2011
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 GeneticVariation disease BEFREE Interindividual variation involving BIO was most strongly associated with EOC risk (empirical P = 0.050), especially for NRF1, MTERF, PPARGC1A, ESRRA, and CAMK2D. 21447778 2011
CUI: C0006079
Disease: Bowen's Disease
Bowen's Disease 		0.300 Biomarker disease CTD_human Aberrant cell proliferation by enhanced mitochondrial biogenesis via mtTFA in arsenical skin cancers. 21514422 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE NOR1 is an HSF1- and NRF1-regulated putative tumor suppressor inactivated by promoter hypermethylation in nasopharyngeal carcinoma. 21803736 2011
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.020 PosttranslationalModification disease BEFREE NOR1 is an HSF1- and NRF1-regulated putative tumor suppressor inactivated by promoter hypermethylation in nasopharyngeal carcinoma. 21803736 2011