AR, androgen receptor, 367

N. diseases: 63; N. variants: 137
Disease: Androgen-Insensitivity Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome. 15531547 2004
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 1307250 1992
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113 1996
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. 9328206 1997
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. 25613104 2015
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 27899157 2016
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895 2005
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. 9856504 1998
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. 10690872 2000
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.800 CausalMutation CLINVAR Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. 25248670 2014
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Androgen receptor gene mutations in 46,XY females with germ cell tumours. 10221692 1999
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Immunoreactive androgen receptor expression in subjects with androgen resistance. 1464650 1992
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy. 8325950 1993
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 7581399 1995
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113 1996
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068 2001
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation 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
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668 2004
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity. 7970939 1994
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173 1997
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340 1996
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 7537149 1995
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation UNIPROT One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. 9610419 1998
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 GeneticVariation 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
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.800 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