Disease: Glucocorticoid Receptor Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Lack of association between NR3C1 polymorphism and glucocorticoid resistance in Chinese patients with immune thrombocytopenia. 23527567 2014
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. 9150737 1997
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Loss of TBL1XR1 disrupts glucocorticoid receptor recruitment to chromatin and results in glucocorticoid resistance in a B-lymphoblastic leukemia model. 24895125 2014
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 AlteredExpression disease BEFREE Low expression of glucocorticoid receptor alpha isoform in adult immune thrombocytopenia correlates with glucocorticoid resistance. 23435844 2013
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 AlteredExpression disease BEFREE LPS regulates the expression of glucocorticoid receptor α and β isoforms and induces a selective glucocorticoid resistance in vitro. 29075152 2017
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE MicroRNA-124a contributes to glucocorticoid resistance in acute-on-chronic liver failure by negatively regulating glucocorticoid receptor alpha. 31628069 2020
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE mRNA expression levels of (co)chaperone molecules of the glucocorticoid receptor are not involved in glucocorticoid resistance in pediatric ALL. 15759037 2005
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Mutations that impair GR function explain glucocorticoid resistance only in sporadic cases. 25665180 2015
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT Natural mutations in the human glucocorticoid receptor (hGR, NR3C1) gene cause Chrousos syndrome, a rare condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids. 26031419 2015
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Natural mutations in the human glucocorticoid receptor (hGR, NR3C1) gene cause Chrousos syndrome, a rare condition characterized by generalized, partial, target-tissue insensitivity to glucocorticoids. 26031419 2015
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 AlteredExpression disease BEFREE NFκB activation and p300 knockdown both reduced direct transcriptional output of GR whereas p300 overexpression and NFκB inhibition reverted TNF-induced GCR, which is in support of a cofactor reshuffle model. 31182584 2019
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 AlteredExpression disease BEFREE No significant difference in expression levels of GR was found between groups POCD and non-POCD patients.High expression of FKBP51 in leukocytes and glucocorticoid resistance were associated with POCD in aged patients following hip fracture surgery. 30702561 2019
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Our results show that GR gene mutations are rare and unlikely to contribute to the glucocorticoid resistance observed in corticotropinomas. 12390341 2002
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Our results suggest that specific inhibition of the AKT1/14-3-3 activity on the cytoplasmic retention of GR may be a promising target for treating glucocorticoid resistance observed in ALL. 27717743 2017
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE p300 plays a crucial role in the pathogenesis of HSPN. p300 can down-regulate the expression of resistance genes (AP-1 and TGF-β1) by binding with GRα to prevent further renal injury and glucocorticoid resistance. 31365430 2019
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking. 11701741 2001
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Primary glucocorticoid resistance (OMIM 138040) is a rare hereditary disease that causes a generalized partial insensitivity to glucocorticoid action, due to genetic alterations of the glucocorticoid receptor (GR). 21042587 2010
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Recently a causative role for a splicing variant of the glucocorticoid receptor (hGR beta) has been proposed in glucocorticoid resistance in asthma and ulcerative colitis, whereas another splicing variant (hGR P) might be associated with glucocorticoid-resistant haematological malignancies. 15635817 2004
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Several genetic defects, including point mutations, deletions or insertions in the NR3C1 gene that encodes the GR, have been associated with familial or sporadic generalized glucocorticoid resistance or Chrousos syndrome. 30006372 2018
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE The 9β polymorphism of the glucocorticoid receptor gene is associated with relative glucocorticoid resistance and has been reported to increase the risk of myocardial infarction in the elderly. 24466047 2014
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT The glucocorticoid resistance in vivo in these two patients corresponds to impaired function of the two mutated GR forms in two in vitro assays. 11589680 2001
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE The glucocorticoid resistance in vivo in these two patients corresponds to impaired function of the two mutated GR forms in two in vitro assays. 11589680 2001
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 AlteredExpression disease BEFREE The alternatively spliced GR isoform (GRP), which exerts a dominant negative effect on GRalpha-mediated transcriptional activity, has been proposed as a possible mediator of glucocorticoid resistance. 11069204 2000
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE The extreme variability in the clinical manifestations of glucocorticoid resistance and its mimicry of many common diseases can be explained by different degrees of glucocorticoid resistance, differing sensitivity of target tissues to mineralocorticoids and/or androgens or both, and perhaps different biochemical defects of the glucocorticoid receptor. 7792808 1995
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GermlineCausalMutation disease ORPHANET The homozygous mutation in the ligand-binding domain of the glucocorticoid receptor gene resulted in a functionally inactive glucocorticoid receptor and apparent complete glucocorticoid resistance with biochemical GH deficiency. 19933394 2010