| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Glucocorticoid Receptor Deficiency
|
0.800 | GeneticVariation | UNIPROT | Functional characterization of the hGRαT556I causing Chrousos syndrome. | 26541474 | 2016 | |||||
Glucocorticoid Receptor Deficiency
|
0.800 | GeneticVariation | UNIPROT | Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance. | 27120390 | 2016 | |||||
Glucocorticoid Receptor Deficiency
|
0.800 | GeneticVariation | UNIPROT | A novel mutation of the hGR gene causing Chrousos syndrome. | 26031419 | 2015 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
0.800 | GeneticVariation | UNIPROT | Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. | 11589680 | 2001 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
0.800 | GeneticVariation | UNIPROT | A mutation of the glucocorticoid receptor in primary cortisol resistance. | 7683692 | 1993 | |||||
Glucocorticoid Receptor Deficiency
|
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 | |||||
Glucocorticoid Receptor Deficiency
|
0.800 | CausalMutation | CLINVAR |