Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893909
rs104893909
NR3C1
0.800 GeneticVariation UNIPROT Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance. 27120390

2016
dbSNP: rs104893909
rs104893909
NR3C1
0.800 GeneticVariation UNIPROT Functional characterization of the hGRαT556I causing Chrousos syndrome. 26541474

2016
dbSNP: rs104893909
rs104893909
NR3C1
0.800 GeneticVariation UNIPROT A novel mutation of the hGR gene causing Chrousos syndrome. 26031419

2015
dbSNP: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
0.800 GeneticVariation UNIPROT Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. 11589680

2001
dbSNP: rs104893909
rs104893909
NR3C1
0.800 GeneticVariation UNIPROT A mutation of the glucocorticoid receptor in primary cortisol resistance. 7683692

1993
dbSNP: rs104893909
rs104893909
NR3C1
0.800 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: rs104893909
rs104893909
NR3C1
T 0.800 CausalMutation CLINVAR