AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Male infertility ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE In more recent years, however, mutations in the AR gene have been described in a number of diverse clinical conditions, from male infertility to prostate and breast cancer through to a form of motor neurone disease (Kennedy's disease). 7489816 1995
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. 9360540 1997
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 Biomarker phenotype BEFREE Although a possible pathogenic mutation was uncovered, mutations of the nonpolymorphic portions of the TAD of the AR do not appear to have a major role in the aetiology of idiopathic male infertility. 9788719 1998
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Genetic defects of the human androgen receptor (AR) can cause a wide spectrum of androgen insensitivity syndromes (AIS) ranging from phenotypic females in those with complete AIS; ambiguous genitalia in partial AIS; to male infertility in minimal AIS. 9607727 1998
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE To further define the subregions/genes in the Y chromosome causing male infertility and its relationship to polymorphisms of the AR polyglutamine tract, we screened the genomic DNA of 202 subfertile males and 101 healthy fertile controls of predominantly Chinese ethnic origin. 9733433 1998
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Our results thus preclude aberrations in the promoter region of the androgen receptor gene as a common factor in the aetiology of idiopathic male infertility. 10333364 1999
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE We aimed to find out whether expansion of a trinucleotide repeat in the androgen-receptor gene is associated with male infertility. 10466666 1999
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Mutations in the androgen receptor gene are considered as incompatible with preservation of fertility and have been suggested as a cause of male infertility. 10852459 2000
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE CAG repeat expansions in the AR have been associated with male infertility and the neuromuscular disease, spinal bulbar muscular atrophy (SBMA). 10956560 2000
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Genetic screening of over 400 patients and controls showed that defects in the AR gene lead to the production of dysfunctional receptor protein in up to 10% of males with abnormally low sperm production and male infertility. 11079451 2000
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Of particular interest are the roles that polymorphic CAG trinucleotide repeat tracts and subtle mutations in the AR ligand-binding domain have in the aetiology of male infertility and prostate cancer, two conditions affecting large numbers of patients. 10711573 2000
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Our data support an emerging paradigm with respect to AR mutations in the LBD and male infertility: pathogenicity is transmitted through reduced interdomain and coactivator interactions, and androgen analogs that are corrective in vitro may indicate hormonal therapy. 10935543 2000
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility. 11422119 2001
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Although mean CAG length in Singapore patients was longer than in the U.S. samples, long androgen receptor CAG alleles were significantly related to male infertility in both populations. 11172827 2001
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 Biomarker phenotype BEFREE Polymorphisms of the AR contribute to the efficiency of spermatogenesis in normal men, but do not play a predominant role in male infertility. 11397858 2001
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Relationship between expansion of the CAG repeat in exon 1 of the androgen receptor gene and idiopathic male infertility. 11591412 2001
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE To assess the contribution of these genetic defects to male infertility, 61 Israeli men with severe oligo- (n = 15) or azoospermia (n = 46), were screened for Y chromosome microdeletions, and the AR-(CAG)n repeat length. 12220434 2002
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Several reports implicated a relation between the trinucleotide (CAG) repeat length in the androgen-receptor gene and male infertility, whereas others failed to find an association. 11809188 2002
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men. 12031042 2002
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 Biomarker phenotype LHGDN [The androgen receptor: molecular pathology]. 12465595 2002
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 Biomarker phenotype CTD_human Y chromosome microdeletions contribute to male infertility in our azoospermic population, and the mean length of the AR-CAG is significantly longer in our infertile population than in fertile men. 12220434 2002
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE CAG repeat length in the androgen receptor gene affects the risk of male infertility. 14511213 2003
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 Biomarker phenotype BEFREE Androgen receptor gene and male infertility. 12638777 2003
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE Although abnormally long CAG repeats are strongly associated with male infertility, it is unclear whether CAG repeat length polymorphism can affect androgen receptor activity and sperm parameters. 15117901 2004
CUI: C0021364
Disease: Male infertility
Male infertility 		0.400 GeneticVariation phenotype BEFREE These data show a combined effect of CAG and GGC repeat numbers on AR function and the first evidence of a relationship of particular CAG/GGC haplotypes with male infertility. 15044606 2004