AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Testicular Feminization ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). 1487249 1992
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Recently it has been increasingly obvious that androgen receptor mutations not only result in the complete androgen insensitivity syndrome, but can cause a wide spectrum of milder insensitivity syndromes including ambiguous genitalia in newborn infants, and 'idiopathic' male infertility in otherwise normal males. 11396657 2001
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity. 2333898 1990
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. 9328206 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance. 1999491 1991
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. 1569163 1992
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE These experiments revealed that the functional difference between a mutant AR that causes a partial and one that causes a complete androgen insensitivity may be very small. 9302173 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE This tentative theory is partially supported by lower 2D:4D in girls with congenital adrenal hyperplasia (CAH), higher 2D:4D in individuals with complete androgen insensitivity syndrome (CAIS) and a relationship between 2D:4D and polymorphisms in the androgen receptor. 28613048 2017
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE A naturally occurring mutation in the human androgen receptor of a subject with complete androgen insensitivity confers binding and transactivation by estradiol. 17011702 2007
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE It was concluded that the novel c.C2754 > T transition rendered the androgen receptor incapable of both ligand binding and activating the transcription, and was the cause of CAIS in the patient. 15724799 2004
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Complete or gross deletions of the androgen receptor gene have not been frequently found in persons with the complete androgen insensitivity syndrome, whereas point mutations at several different sites in exons 2-8 encoding the DNA- and androgen-binding domain have been reported in both partial and complete forms of androgen insensitivity, with a relatively high number of mutations in two clusters in exons 5 and 7. 8732995 1996
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Two substitutions at an identical location in the ligand-binding domain (LBD) of the human androgen receptor (AR), R855C and R855H, are associated with complete androgen insensitivity syndrome (AIS) and partial AIS, respectively. 15118070 2004
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE The identification of an AR mutation in a girl with CAIS provides important information, because of the syndrome's genetic heterogeneity. 15813610 2005
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE A phenotypic female with complete androgen insensitivity from a maternally inherited mutation in the androgen receptor had a 47,XXY karyotype. 19732585 2009
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity. 28299491 2017
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE The genetic basis for CAIS in this large family is the missense mutation, D732Y, in exon 5 of the androgen receptor ligand-binding domain. 17229664 2007
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gene. 27583472 2016
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Although rare, complete deletion of the AR gene is of particular importance in terms of correlation between molecular defect and phenotype, as it represents the quintessential form of complete androgen insensitivity, the null phenotype. 1347772 1992
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE A diverse range of clinical conditions starting with complete androgen insensitivity has been correlated with mutations in the AR. 12641825 2003
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity. 16449235 2006
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Our study extends the spectrum of exon 1 mutations in the AR gene leading to CAIS. 17714709 2008
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Premature stop codons of the human androgen receptor (AR) gene are usually associated with a complete androgen insensitivity syndrome. 9360511 1997
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Molecular genetic analysis of the androgen receptor gene aids in the rapid diagnosis of complete androgen insensitivity irrespective of atypical clinical phenotypes and endocrinologic parameters. 10428170 1999
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE A case of complete androgen insensitivity syndrome with a novel androgen receptor mutation. 23329762 2012
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization 		0.600 GeneticVariation disease BEFREE Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD), and are associated with a variety of phenotypes ranging from phenotypic women (Complete Androgen Insensitivity Syndrome or CAIS) to milder degrees of undervirilisation (Partial Androgen Insensitivity Syndrome or PAIS) or men with infertility only (Mild Androgen Insensitivity Syndrome or MAIS). 24186597 2013