DisGeNET - a database of gene-disease associations

Source: ALL

Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT ×

Variant: rs111033308 ×

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:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

CLINVAR

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

29546359

2018

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

CLINVAR

Genetics of hearing loss in the Arab population of Northern Israel.

30139988

2018

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

CLINVAR

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

27771369

2017

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

CLINVAR

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

28964290

2017

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

28281779

2017

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

CLINVAR

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

26763877

2016

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

24051746

2013

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.

20108392

2010

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

20597900

2010

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

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:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

CLINVAR

Heterogeneity in the processing defect of SLC26A4 mutants.

18310264

2008

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

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:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

12676893

2003

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

14508505

2003

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

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

11748854

2001

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

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

10700480

2000

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

CLINVAR

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

10861298

2000

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

10190331

1999

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

UNIPROT

A mutation in PDS causes non-syndromic recessive deafness.

9500541

1998

dbSNP:

rs111033308

SLC26A4

CUI:	C3538946
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

0.800

GeneticVariation

CLINVAR

A mutation in PDS causes non-syndromic recessive deafness.

9500541

1998