DisGeNET - a database of gene-disease associations

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

Gene: SLC26A4-AS1 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	286002
Gene Symbol:	SLC26A4-AS1

SLC26A4-AS1

0.100

GeneticVariation

disease

CLINVAR

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

2014

Entrez Id:	286002
Gene Symbol:	SLC26A4-AS1

SLC26A4-AS1

0.100

CausalMutation

disease

CLINVAR