AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Bulbo-Spinal Atrophy, X-Linked ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852569
rs137852569
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China. 28261839 2017
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). 28624954 2017
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR [Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR]. 28186600 2017
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 27899157 2016
dbSNP: rs1555997580
rs1555997580
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Targeted next-generation sequencing identification of mutations in patients with disorders of sex development. 26980296 2016
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer. 27267075 2016
dbSNP: rs137852565
rs137852565
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome. 25613104 2015
dbSNP: rs137852569
rs137852569
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD). 26778393 2015
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 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: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. 25248670 2014
dbSNP: rs886041133
rs886041133
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity. 24737579 2014
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Mutation analysis of androgen receptor gene: multiple uses for a single test. 25241384 2014
dbSNP: rs1386577803
rs1386577803
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. 20150575 2010
dbSNP: rs1555990470
rs1555990470
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 GeneticVariation CLINVAR C601S mutation in the androgen receptor results in partial loss of androgen function. 20493947 2010
dbSNP: rs1569314508
rs1569314508
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		C 0.700 CausalMutation CLINVAR Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. 19463997 2010
dbSNP: rs886041133
rs886041133
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. 20150575 2010
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine. 20011049 2009
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine. 20011049 2009
dbSNP: rs137852573
rs137852573
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. 17054461 2006
dbSNP: rs1555996810
rs1555996810
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		C 0.700 CausalMutation CLINVAR Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity. 16365032 2006
dbSNP: rs9332969
rs9332969
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR "Genetic analysis of a family with 46,XY ""female"" associated with infertility." 16450583 2006
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Dissecting phenotypic variation among AIS patients. 16083860 2005
dbSNP: rs137852577
rs137852577
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		T 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895 2005
dbSNP: rs1555996810
rs1555996810
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		C 0.700 CausalMutation CLINVAR Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction. 15541764 2005
dbSNP: rs1555996863
rs1555996863
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C1839259
Disease:
Bulbo-Spinal Atrophy, X-Linked 		A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in patients with androgen insensitivity syndromes. 15925895 2005