DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Pendred's syndrome ×

Gene: SLC26A4 ×

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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:

rs1045933779

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

20146813

2010

dbSNP:

rs1045933779

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

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:

rs1045933779

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

25394566

2015

dbSNP:

rs1045933779

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

Significance of unilateral enlarged vestibular aqueduct.

23401162

2013

dbSNP:

rs1057516243

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

25372295

2014

dbSNP:

rs1057516243

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

23918157

2013

dbSNP:

rs1057516243

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

24599119

2014

dbSNP:

rs1057516354

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

18285825

2008

dbSNP:

rs1057516535

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057516634

SLC26A4 ; SLC26A4-AS1

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057516636

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057516658

SLC26A4 ; SLC26A4-AS1

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

25372295

2014

dbSNP:

rs1057516678

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057516717

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057516796

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057516881

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

23918157

2013

dbSNP:

rs1057516881

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

25372295

2014

dbSNP:

rs1057516881

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.

23151025

2012

dbSNP:

rs1057516953

SLC26A4 ; SLC26A4-AS1

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

25372295

2014

dbSNP:

rs1057516988

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

17940114

2008

dbSNP:

rs1057516988

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.

26100058

2015

dbSNP:

rs1057516988

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

18250610

2007

dbSNP:

rs1057516988

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

CausalMutation

CLINVAR

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

24599119

2014

dbSNP:

rs1057517000

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057517000

SLC26A4

CUI:	C0271829
Disease:	Pendred's syndrome

Pendred's syndrome

0.700

GeneticVariation

CLINVAR

A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.

23838540

2013