DisGeNET - a database of gene-disease associations

Pendred's syndrome, C0271829

Gene: SLC26A4 ×

Source: CLINVAR ×

Results per page

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:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Resistance to hypertension and high Cl^- excretion in humans with SLC26A4 mutations.

27090054

2017

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

CausalMutation

disease

CLINVAR

A frequent oligogenic involvement in congenital hypothyroidism.

28444304

2017

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

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

27771369

2017

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

CausalMutation

disease

CLINVAR

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

29196752

2017

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

28786104

2017

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Genetic causes of moderate to severe hearing loss point to modifiers.

27573290

2017

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].

28604962

2017

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.

26752218

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

CausalMutation

disease

CLINVAR

Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.

27240500

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

26969326

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

CausalMutation

disease

CLINVAR

Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.

27541434

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.

27247933

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

26485571

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.

27792752

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

CausalMutation

disease

CLINVAR

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

26969326

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

27344577

2016

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

25991456

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

CausalMutation

disease

CLINVAR

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.

26100058

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.

26397989

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

25394566

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.

25788563

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

CausalMutation

disease

CLINVAR

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

25394566

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

CausalMutation

disease

CLINVAR

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

26445815

2015

Entrez Id:	5172
Gene Symbol:	SLC26A4

SLC26A4

1.000

GeneticVariation

disease

CLINVAR

Challenges and solutions for gene identification in the presence of familial locus heterogeneity.

25491636

2015