rs1085307685, AR

N. diseases: 2
Source: UNIPROT ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Reifenstein Syndrome
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
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity 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
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. 11587068 2001
Reifenstein Syndrome
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
Reifenstein Syndrome
CUI: C0268301
Disease: Reifenstein Syndrome
0.700 GeneticVariation UNIPROT Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation. 10543676 1999
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Androgen receptor gene mutations in 46,XY females with germ cell tumours. 10221692 1999
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. 10458483 1999
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. 9698822 1998
Reifenstein Syndrome
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
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome. 9610419 1998
Reifenstein Syndrome
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
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity. 9544375 1998
Reifenstein Syndrome
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
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome. 9302173 1997
Reifenstein Syndrome
CUI: C0268301
Disease: Reifenstein Syndrome
0.700 GeneticVariation UNIPROT Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. 8824883 1996
Reifenstein Syndrome
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
Reifenstein Syndrome
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
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT The clinical and molecular spectrum of androgen insensitivity syndromes. 8723113 1996
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. 8809734 1996
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. 9039340 1996
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. 7581399 1995
Reifenstein Syndrome
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
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Androgen receptor defects: historical, clinical, and molecular perspectives. 7671849 1995
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.700 GeneticVariation UNIPROT Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred. 7537149 1995
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity 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