DisGeNET - a database of gene-disease associations

Reifenstein Syndrome, C0268301

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852564

0.800

GeneticVariation

UNIPROT

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

10543676

1999

dbSNP:

rs137852567

0.800

GeneticVariation

UNIPROT

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

10543676

1999

dbSNP:

rs137852592

0.800

GeneticVariation

UNIPROT

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

10543676

1999

dbSNP:

rs104894742

0.800

GeneticVariation

UNIPROT

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

9768671

1998

dbSNP:

rs104894742

0.800

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:

rs137852564

0.800

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:

rs137852564

0.800

GeneticVariation

UNIPROT

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

9768671

1998

dbSNP:

rs137852567

0.800

GeneticVariation

UNIPROT

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

9768671

1998

dbSNP:

rs137852567

0.800

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:

rs137852592

0.800

GeneticVariation

UNIPROT

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

9768671

1998

dbSNP:

rs137852592

0.800

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:

rs104894742

0.800

GeneticVariation

UNIPROT

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

9302173

1997

dbSNP:

rs137852564

0.800

GeneticVariation

UNIPROT

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

9302173

1997

dbSNP:

rs137852567

0.800

GeneticVariation

UNIPROT

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

9302173

1997

dbSNP:

rs137852592

0.800

GeneticVariation

UNIPROT

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

9302173

1997

dbSNP:

rs104894742

0.800

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:

rs104894742

0.800

GeneticVariation

UNIPROT

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

9039340

1996

dbSNP:

rs104894742

0.800

GeneticVariation

UNIPROT

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

8824883

1996

dbSNP:

rs137852564

0.800

GeneticVariation

UNIPROT

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

9039340

1996

dbSNP:

rs137852564

0.800

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:

rs137852564

0.800

GeneticVariation

UNIPROT

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

8824883

1996

dbSNP:

rs137852567

0.800

GeneticVariation

UNIPROT

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

8824883

1996

dbSNP:

rs137852567

0.800

GeneticVariation

UNIPROT

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

9039340

1996

dbSNP:

rs137852567

0.800

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:

rs137852592

0.800

GeneticVariation

UNIPROT

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

8824883

1996