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 Biomarker disease GENOMICS_ENGLAND
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease CTD_human
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 CausalMutation disease CLINVAR
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1). 19133980 2009
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 AlteredExpression disease BEFREE Glucocorticoid resistance in atopic dermatitis associated with decreased expression of glucocorticoid receptor-alpha in peripheral blood mononuclear cells. 20536659 2010
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 AlteredExpression disease BEFREE Glucocorticoid resistance in ALL xenografts was consistently associated with failure to up-regulate BIM expression after dexamethasone exposure despite confirmation of a functional glucocorticoid receptor. 20647567 2010
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene. 21362280 2011
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Chrousos syndrome is a rare pathologic condition characterized by generalized, partial resistance of target tissues to glucocorticoids and caused by inactivating mutations of the human glucocorticoid receptor (hGR) gene. 26541474 2016
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Glucocorticoid resistance (GCR), i.e. unresponsiveness to the beneficial anti-inflammatory activities of the glucocorticoid receptor (GR), poses a serious problem in the treatment of inflammatory diseases. 28686666 2017
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder caused by inactivating mutations of the NR3C1 gene which encodes the glucocorticoid receptor. 30158362 2018
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE Glucocorticoid resistance syndrome (GRS) is caused by mutations of the glucocorticoid receptor (coded by the NR3C1 gene) and presents with signs of mineralocorticoid and/or androgen excess. 31145715 2019
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Glucocorticoid receptor alpha isoform-selective regulation of antiapoptotic genes in osteosarcoma cells: a new mechanism for glucocorticoid resistance. 21527497 2011
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Glucocorticoid receptor dysfunction and histone deacetylase activity reduction are likely to contribute to glucocorticoid resistance in severe asthma patients. 22515387 2012
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE Glucocorticoid receptor β (GRβ) is associated with glucocorticoid resistance via dominant negative regulation of GRα. 29437838 2018
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE A glucocorticoid receptor gene variant (ER22/23EK) is related to relative glucocorticoid resistance. 17184882 2008
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692 1993
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT A novel case of Chrousos syndrome has been reported in a patient with adrenal incidentaloma, who harboured a heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor. 26541474 2016
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 Biomarker disease BEFREE A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain. 20335448 2010
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain. 20335448 2010
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD. 23426617 2013
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: the importance of the C terminus of hGR LBD in conferring transactivational activity. 15769988 2005
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities. 24483153 2014
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities. 24483153 2014
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease UNIPROT A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators. 12050230 2002
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		0.800 GeneticVariation disease BEFREE A polymorphism of the glucocorticoid receptor gene (in codons 22 and 23) has previously been found to be associated with relative glucocorticoid resistance, low cholesterol levels, and increased insulin sensitivity. 15292341 2004