DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Variant: rs539699299 ×

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:

rs539699299

SLC26A4 ; SLC26A4-AS1

0.800

GeneticVariation

CLINVAR

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.

22285650

2012

dbSNP:

rs539699299

SLC26A4 ; SLC26A4-AS1

0.800

GeneticVariation

CLINVAR

Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.

24341454

2013

dbSNP:

rs539699299

SLC26A4 ; SLC26A4-AS1

0.800

GeneticVariation

CLINVAR

Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

24224479

2014