DisGeNET - a database of gene-disease associations

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

Variant: rs1554360358 ×

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:

rs1554360358

SLC26A4

0.700

GeneticVariation

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:

rs1554360358

SLC26A4

0.700

GeneticVariation

CLINVAR

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

23705809

2013

dbSNP:

rs1554360358

SLC26A4

0.700

GeneticVariation

CLINVAR

A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.

20583162

2010

dbSNP:

rs1554360358

SLC26A4

0.700

GeneticVariation

CLINVAR

Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.

17851929

2007

dbSNP:

rs1554360358

SLC26A4

0.700

CausalMutation

CLINVAR