AR, androgen receptor, 367

N. diseases: 854; N. variants: 163
Disease: Reifenstein Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor. 14756668 2004
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068 2001
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 10543676 1999
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome. 9768671 1998
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor. 9543136 1998
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173 1997
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340 1996
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation. 8823308 1996
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition. 8824883 1996
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome. 7649358 1995
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. 8126121 1994
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 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: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Molecular characterization of the androgen receptor gene in boys with hypospadias. 8033918 1994
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 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
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Mutations of the androgen receptor gene identified in perineal hypospadias. 8097257 1993
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 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: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome. 8325932 1993
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 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: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. 1307250 1992
dbSNP: rs137852589
rs137852589
Entrez Id: 367
Gene Symbol: AR
AR
CUI: C0268301
Disease:
Reifenstein Syndrome 		0.700 GeneticVariation UNIPROT Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. 1424203 1992