Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation BEFREE Because the main feature of such pathology is the resistance of the hypothalamic-pituitary-adrenal axis to the hormone cortisol, we used the GR ligand binding domain three-dimensional structure to perform computational analysis for eight variants known to cause this clinical condition (I559 N, V571A, D641V, G679S, F737L, I747 M, L753F and L773P), aiming to understand, on the atom scale, how they cause glucocorticoid resistance. 31401440

2019
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Functional characterization of the hGRαT556I causing Chrousos syndrome. 26541474

2016
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance. 27120390

2016
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A novel mutation of the hGR gene causing Chrousos syndrome. 26031419

2015
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation 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
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT 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
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Generalized glucocorticoid resistance accompanied with an adrenocortical adenoma and caused by a novel point mutation of human glucocorticoid receptor gene. 21362280

2011
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation 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
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance. 17635946

2007
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation 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
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation 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
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation 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
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs104893912
rs104893912
NR3C1
0.810 GeneticVariation UNIPROT Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. 1704018

1991
dbSNP: rs104893912
rs104893912
NR3C1
G 0.810 CausalMutation CLINVAR