DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Variant: rs145254330 ×

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:

rs145254330

SLC26A4

0.800

GeneticVariation

CLINVAR

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

27771369

2017

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

CLINVAR

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

26969326

2016

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

19204907

2009

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

CLINVAR

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

16570074

2006

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

15689455

2005

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

15531480

2004

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

15355436

2004

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

14679580

2004

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.

12974744

2003

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.

12788906

2003

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

11932316

2002

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.

11919333

2002

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

CLINVAR

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

11932316

2002

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

11317356

2001

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

11375792

2001

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

11748854

2001

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.

10878664

2000

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

CLINVAR

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

10700480

2000

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

10602116

2000

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

A novel mutation in the pendrin gene associated with Pendred's syndrome.

10718825

2000

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Molecular analysis of the PDS gene in Pendred syndrome.

9618167

1998

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Two frequent missense mutations in Pendred syndrome.

9618166

1998

dbSNP:

rs145254330

SLC26A4

0.800

GeneticVariation

UNIPROT

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

9398842

1997

dbSNP:

rs145254330

SLC26A4

0.800

CausalMutation

CLINVAR