DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs137852591 ×

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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

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

CausalMutation

CLINVAR

dbSNP:

rs137852591

CUI:	C0376358
Disease:	Malignant neoplasm of prostate

Malignant neoplasm of prostate

0.700

GeneticVariation

UNIPROT

dbSNP:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

1307250

1992

dbSNP:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein 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:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity 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:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.

1424203

1992

dbSNP:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.700

GeneticVariation

UNIPROT

Immunoreactive androgen receptor expression in subjects with androgen resistance.

1464650

1992

dbSNP:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

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

dbSNP:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

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

dbSNP:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.

7649358

1995

dbSNP:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.700

GeneticVariation

UNIPROT

Androgen receptor defects: historical, clinical, and molecular perspectives.

7671849

1995

dbSNP:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

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:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein 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:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

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

dbSNP:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Molecular characterization of the androgen receptor gene in boys with hypospadias.

8033918

1994

dbSNP:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.700

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:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Mutations of the androgen receptor gene identified in perineal hypospadias.

8097257

1993

dbSNP:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

GeneticVariation

UNIPROT

Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

8126121

1994

dbSNP:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.700

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:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein Syndrome

0.810

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:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

Reifenstein 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:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity 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:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.700

GeneticVariation

UNIPROT

The clinical and molecular spectrum of androgen insensitivity syndromes.

8723113

1996

dbSNP:

rs137852591

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

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

dbSNP:

rs137852591

CUI:	C0268301
Disease:	Reifenstein Syndrome

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