Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004096
Disease: Asthma
Asthma
0.010 AlteredExpression disease BEFREE HSF-1 were upregulated in OVA-induced asthmatic mice, and knockdown of HSF1 aggravated the OVA-induced airway inflammation and airway hyperreactivity in mice may through promoting the expression of HMGB1 and the activation of the Toll-like receptor 4 (TLR4)/Myeloid differentiation primary response 88 (MyD88)/Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) signal pathway. 31825792 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 Biomarker group BEFREE When administered in a rat model of placental ischemia, SynB1-ELP-p50i partially ameliorated placental ischemia-induced hypertension and reduced placental TNF-α levels with no signs of toxicity. 31786977 2020
CUI: C0037899
Disease: Sphingolipidoses
Sphingolipidoses
0.010 GeneticVariation disease BEFREE We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). 31610036 2020
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
0.010 Biomarker disease BEFREE We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). 31610036 2020
CUI: C4284088
Disease: MIRAGE SYNDROME
MIRAGE SYNDROME
0.010 Biomarker phenotype BEFREE We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). 31610036 2020
CUI: C0003175
Disease: Anthrax disease
Anthrax disease
0.010 Biomarker disease BEFREE <b>Methods</b>: In this study, for the first time, a triple chimeric protein called ELP was modeled by fusing three different domains of anthrax toxic antigens, the N-terminal domains of EF and LF, and the C-terminal domain of PA as a high immunogenic antigen using Modeller 9.19 software. 30621469 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE Taken together, the observed prediabetes phenotype and lack of response to ACTH indicate that Tspo cKO mice (Nr5a1-Cre<sup>+/-</sup>, Tspo<sup>fl/fl</sup>) could provide a useful model to study the link between diabetes and stress. 30343141 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE Taken together, the observed prediabetes phenotype and lack of response to ACTH indicate that Tspo cKO mice (Nr5a1-Cre<sup>+/-</sup>, Tspo<sup>fl/fl</sup>) could provide a useful model to study the link between diabetes and stress. 30343141 2019
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.010 AlteredExpression disease BEFREE In summary, GHR expression in SF1 cells is required for a normal CRR, and these effects are largely independent of STAT5 pathway.-Furigo, I. C., de Souza, G. O., Teixeira, P. D. S., Guadagnini, D., Frazão, R., List, E. O., Kopchick, J. J., Prada, P. O., Donato, J., Jr. Growth hormone enhances the recovery of hypoglycemia <i>via</i> ventromedial hypothalamic neurons. 31366244 2019
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans
0.010 Biomarker disease BEFREE This study aims to explore whether steroidogenic factor 1 (SF1) is implicated in development of TAO through the adenosine monophosphate-activated protein kinase (AMPK)/mammalian target of rapamycin (mTOR) signaling pathway. 30562606 2019
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.010 GeneticVariation disease BEFREE The etiologies of the 49 cases were adrenoleukodystrophy (ALD; n = 22), X-linked adrenal hypoplasia congenital (X-AHC; n = 20), autoimmune polyglandular syndrome (APS; n = 3), triple A syndrome (n = 2), steroidogenic factor 1 (SF-1) gene mutation (n = 1) and adrenalectomy (n = 1). 31141483 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 Biomarker disease BEFREE Radiosensitization of HSF-1 Knockdown Lung Cancer Cells by Low Concentrations of Hsp90 Inhibitor NVP-AUY922. 31569342 2019
Glucocorticoid deficiency with achalasia
0.010 GeneticVariation disease BEFREE The etiologies of the 49 cases were adrenoleukodystrophy (ALD; n = 22), X-linked adrenal hypoplasia congenital (X-AHC; n = 20), autoimmune polyglandular syndrome (APS; n = 3), triple A syndrome (n = 2), steroidogenic factor 1 (SF-1) gene mutation (n = 1) and adrenalectomy (n = 1). 31141483 2019
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome
0.010 Biomarker disease BEFREE Nr5a1-Cre-mediated Tspo conditional knockout mice with low growth rate and prediabetes symptoms - A mouse model of stress diabetes. 30343141 2019
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 Biomarker disease BEFREE Radiosensitization of HSF-1 Knockdown Lung Cancer Cells by Low Concentrations of Hsp90 Inhibitor NVP-AUY922. 31569342 2019
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome
0.010 Biomarker disease BEFREE In conclusion, we suggest that the distance between mutated SF1 sites and potentially rescuing GATA binding motifs might play a role in the development of PMDS. 31238341 2019
CUI: C3839507
Disease: Diminished ovarian reserve
Diminished ovarian reserve
0.010 GeneticVariation disease BEFREE Sequence variation of the NR5A1 gene is a possibility that must be considered when a woman with POI or a diminished ovarian reserve has a family member or child with DGD. 31831369 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 Biomarker disease BEFREE In this study, we synthesized a novel tumor targeting system by using two key elements: (1) Bld-1 peptide (SNRDARRC), a recently reported bladder tumor targeting peptide identified by using a phage-displayed peptide library, and (2) ELP, a thermally responsive polypeptide. 29497090 2018
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 GeneticVariation group BEFREE Among the remaining 70 cases there were patients with chromosome abnormalities which are not included in the DSD classification as well as rare NR5A1 variants of uncertain significance and hypergonadotropic hypogonadism and microorchidism in 46,XY subjects. 30372699 2018
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 AlteredExpression disease BEFREE Specifically, insulin increased the protein and RNA levels of SF-1 and steroidogenic target genes. 29567944 2018
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 Biomarker group BEFREE Coffee extract and caffeine enhance the heat shock response and promote proteostasis in an HSF-1-dependent manner in Caenorhabditis elegans. 28674941 2018
CUI: C3805515
Disease: Microorchidism
Microorchidism
0.010 GeneticVariation disease BEFREE Among the remaining 70 cases there were patients with chromosome abnormalities which are not included in the DSD classification as well as rare NR5A1 variants of uncertain significance and hypergonadotropic hypogonadism and microorchidism in 46,XY subjects. 30372699 2018
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.010 GeneticVariation phenotype BEFREE In this study, the effect of 3-2-(2-aminoethylamino) ethylamino propyl trimethoxysilane (ETAS) modification and post rapid thermal annealing (RTA) treatment on the adhesion of electroless plated nickel-phosphorus (ELP Ni-P) film on polyvinyl alcohol-capped palladium nanoclusters (PVA-Pd) catalyzed silicon wafers is systematically investigated. 28851883 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Further, the formation of neuronal aggregates is also influenced by HSP90 inhibitors and provides protection from toxicity of protein through HSF-1 activation and HSP70 induction in AD. 28758577 2017
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.010 Biomarker group BEFREE Our findings identify SF1 neurons as a key part of the neurocircuitry that controls both feeding and related affective states, giving potential insights into the relationship between disordered eating and stress-associated psychological disorders in humans. 29262334 2017