DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Androgen-Insensitivity Syndrome ×

Variant: rs1555996863 ×

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:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

27899157

2016

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.

25613104

2015

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

25248670

2014

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

Novel and recurrent mutations in patients with androgen insensitivity syndromes.

15925895

2005

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.

14756668

2004

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome.

15531547

2004

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

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

11587068

2001

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

10690872

2000

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.

10458483

1999

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

Androgen receptor gene mutations in 46,XY females with germ cell tumours.

10221692

1999

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.

9544375

1998

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.

9698822

1998

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.

9610419

1998

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.

9856504

1998

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome.

9328206

1997

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

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

9302173

1997

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

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

9039340

1996

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

The clinical and molecular spectrum of androgen insensitivity syndromes.

8723113

1996

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor.

8809734

1996

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

CausalMutation

CLINVAR

The clinical and molecular spectrum of androgen insensitivity syndromes.

8723113

1996

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.

7581399

1995

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

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

7671849

1995

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

GeneticVariation

UNIPROT

Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.

7537149

1995

dbSNP:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

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:

rs1555996863

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.800

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