DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Variant: rs111033220 ×

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:

rs111033220

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:

rs111033220

SLC26A4

0.800

CausalMutation

CLINVAR

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

11919333

2002

dbSNP:

rs111033220

SLC26A4

0.800

CausalMutation

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:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

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

11919333

2002

dbSNP:

rs111033220

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:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

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

11317356

2001

dbSNP:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

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

11375792

2001

dbSNP:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

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

11748854

2001

dbSNP:

rs111033220

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:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

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

10718825

2000

dbSNP:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

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

10602116

2000

dbSNP:

rs111033220

SLC26A4

0.800

CausalMutation

CLINVAR

Molecular analysis of the PDS gene in Pendred syndrome.

9618167

1998

dbSNP:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

Two frequent missense mutations in Pendred syndrome.

9618166

1998

dbSNP:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

Molecular analysis of the PDS gene in Pendred syndrome.

9618167

1998

dbSNP:

rs111033220

SLC26A4

0.800

GeneticVariation

UNIPROT

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

9398842

1997