Gene: AR ×
Source: UNIPROT ×
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 Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains. 16595706 2006
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Structural basis for accommodation of nonsteroidal ligands in the androgen receptor. 16129672 2005
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668 2004
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT We also outline other recently described mutations of the androgen receptor gene (Xq11-12) which have been associated with AIS. 11744994 2002
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068 2001
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. 10690872 2000
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. 10022458 1999
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity. 10221770 1999
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. 10458483 1999
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Eleven mutations in exon 1 of the androgen receptor gene (AR) have been identified in 15 individuals with Androgen Insensitivity syndrome (AIS). 10571951 1999
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT We suggest regular molecular genetic analysis of the AR gene in 46,XY females with germ cell tumour and androgen insensitivity syndrome to detect differences in the specific regions of AR gene involved in early progression toward oncogenesis of the dysgenetic gonads. 10221692 1999
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation. 10404311 1999
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. 10590024 1999
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. 9610419 1998
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. 9856504 1998
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Androgen insensitivity syndromes are due to defects in the androgen receptor gene. 9544375 1998
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. 9698822 1998
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Inherited and de novo androgen receptor gene mutations: investigation of single-case families. 9627582 1998
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation. 9851768 1998
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Several mutations have been described in the human androgen receptor gene including constitutional mutations in androgen insensitivity syndrome, somatic mutations in prostate cancer and triplet expansions in Kennedy's disease (Gottlieb et al.1997). 9554754 1998
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling. 9106550 1997
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group. 9007482 1997
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Mutations of the androgen receptor gene in patients with complete androgen insensitivity. 8990010 1997
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Seven patients with androgen insensitivity syndrome (AIS) were subjected to molecular analysis of AR exons B-H by a similar protocol, except for the use of denaturing gradient gel electrophoresis (DGGE) for screening point mutations. 9160185 1997
Entrez Id: 367
Gene Symbol: AR
AR 		1.000 GeneticVariation disease UNIPROT Androgen insensitivity syndrome (AIS) is a disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. 9328206 1997