DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Variant: rs397516413 ×

Source: CLINVAR ×

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:

rs397516413

SLC26A4

0.700

CausalMutation

CLINVAR

The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.

25290043

2015

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

23336812

2013

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

22903915

2012

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

21704276

2011

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

18813951

2009

dbSNP:

rs397516413

SLC26A4

0.700

CausalMutation

CLINVAR

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

18813951

2009

dbSNP:

rs397516413

SLC26A4

0.700

CausalMutation

CLINVAR

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

19169484

2008

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

19169484

2008

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

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

14679580

2004

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

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

11919333

2002

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

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

11748854

2001

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

10902795

2000

dbSNP:

rs397516413

SLC26A4

0.700

GeneticVariation

CLINVAR

Two frequent missense mutations in Pendred syndrome.

9618166

1998

dbSNP: