DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, C3538946

Variant: rs141142414 ×

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:

rs141142414

SLC26A4 ; SLC26A4-AS1

0.700

GeneticVariation

CLINVAR

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

27771369

2017

dbSNP:

rs141142414

SLC26A4 ; SLC26A4-AS1

0.700

GeneticVariation

CLINVAR

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

16570074

2006

dbSNP:

rs141142414

SLC26A4 ; SLC26A4-AS1

0.700

CausalMutation

CLINVAR