DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Variant: rs1057516988 ×

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:

rs1057516988

SLC26A4

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

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:

rs1057516988

SLC26A4

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

0.700

CausalMutation

CLINVAR

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

18250610

2007