DisGeNET - a database of gene-disease associations

AR, androgen receptor, 367

N. diseases: 854; N. variants: 163

Disease: Reifenstein Syndrome ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

BEFREE

The patient presented neonatally with 46,XY DSD and was diagnosed as partial androgen insensitivity syndrome carrying a disease causing AR mutation (p.Q798E).

20410220

2010

dbSNP:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein 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:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein 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

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein 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:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

11587068

2001

dbSNP:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

11587068

2001

dbSNP:

rs137852600

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.

11587068

2001

dbSNP:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.

10543676

1999

dbSNP:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

BEFREE

Arg607-Gln and Arg608-Lys point mutations in the DNA-binding domain of the AR gene have been associated with male breast cancer in partial androgen insensitivity syndrome.

10221692

1999

dbSNP:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.

10543676

1999

dbSNP:

rs137852600

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.

10543676

1999

dbSNP:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.

9768671

1998

dbSNP:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

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:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.

9768671

1998

dbSNP:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

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:

rs137852600

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.

9768671

1998

dbSNP:

rs137852600

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

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:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.

9302173

1997

dbSNP:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein 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

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.

9302173

1997

dbSNP:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

8824883

1996

dbSNP:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

9039340

1996

dbSNP:

rs137852573

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

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:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

9039340

1996

dbSNP:

rs137852591

Entrez Id:	367
Gene Symbol:	AR

CUI:	C0268301
Disease:

Reifenstein Syndrome

0.810

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