Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. 9698822

1998
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Inherited and de novo androgen receptor gene mutations: investigation of single-case families. 9627582

1998
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Mutations of the androgen receptor gene in patients with complete androgen insensitivity. 8990010

1997
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Immunoreactive androgen receptor expression in subjects with androgen resistance. 1464650

1992
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 7537149

1995
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form. 8830623

1995
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT AIS is often accompanied by a broad spectrum of abnormal binding characteristics of the androgen receptor (AR). 9039340

1996
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. 7929841

1994
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Androgen insensitivity syndrome (AIS) is a disorder of male sexual differentiation caused by mutations in the androgen receptor (AR) gene. 9328206

1997
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor. 8162033

1994
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. 10590024

1999
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation 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
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		1.000 GeneticVariation UNIPROT Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids. 7981687

1994