Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. 2594783 1989
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity. 2082179 1990
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics. 1775137 1991
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT 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
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT This precise alteration has not been previously identified in the human androgen receptor gene in patients with the androgen insensitivity syndrome. 1426313 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT In seven families with complete AIS, single base mutations were found in the region of the AR gene encoding the steroid-binding domain of the receptor. 1480178 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes. 1609793 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Immunoreactive androgen receptor expression in subjects with androgen resistance. 1464650 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS). 1487249 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT These results suggest that mutations affecting the ligand binding domain of the androgen receptor are the most frequent cause of AIS, although some cases of PAIS may be the result of other, as yet undefined, genetic lesions. 1307250 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance. 1316540 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. 1430233 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. 1569163 1992
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT An exonic point mutation creates a MaeIII site in the androgen receptor gene of a family with complete androgen insensitivity syndrome. 8103398 1993
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT To our knowledge, there has been no previous report of a de novo mutation described within the androgen receptor gene in patients with androgen insensitivity syndrome. 8096390 1993
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes. 8446106 1993
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro. 8281140 1993
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Our data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome. 8325950 1993
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Androgen insensitivity syndromes represent one cause of human male pseudohermaphroditism related to defects in the androgen receptor. 8339746 1993
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene causes complete androgen insensitivity in two siblings with receptor-positive androgen resistance. 8413310 1993
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT This amino acid substitution has not been previously described in the androgen receptor in patients with androgen insensitivity syndrome. 8224266 1993
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. 8040309 1994
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene. 7993455 1994
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT This mutation caused the mildest form of all androgen insensitivity syndromes ever examined for mutations in the androgen receptor gene. 7962294 1994
Entrez Id: 367
Gene Symbol: AR
AR
1.000 GeneticVariation disease UNIPROT Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. 7929841 1994