AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Androgen-Insensitivity Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668 2004
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068 2001
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Androgen receptor gene mutations in 46,XY females with germ cell tumours. 10221692 1999
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. 10458483 1999
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation BEFREE We studied two mutants associated with partial AIS: G743V and R840C. 9768671 1998
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. 9610419 1998
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. 9544375 1998
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. 9698822 1998
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173 1997
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113 1996
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340 1996
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 8809734 1996
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 7537149 1995
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 7581399 1995
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Androgen receptor defects: historical, clinical, and molecular perspectives. 7671849 1995
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 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: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 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: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 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: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 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: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 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
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		0.810 GeneticVariation UNIPROT Immunoreactive androgen receptor expression in subjects with androgen resistance. 1464650 1992
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		A 0.810 CausalMutation CLINVAR
dbSNP: rs137852600
rs137852600
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome 		T 0.810 CausalMutation CLINVAR