Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. 30760291 2019
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs. 30484383 2019
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province. 30693673 2019
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss. 30077349 2019
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct. 30086623 2019
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Genetics of hearing loss in the Arab population of Northern Israel. 30139988 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. 29739340 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. 30622556 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. 29546359 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. 30240412 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 29048421 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 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 		0.730 GeneticVariation disease CLINVAR A frequent oligogenic involvement in congenital hypothyroidism. 28444304 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 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 		0.730 GeneticVariation disease CLINVAR Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. 28964290 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. 28000701 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. 29372807 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 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 		0.730 GeneticVariation disease CLINVAR Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. 26346818 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. 26763877 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 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 		0.730 GeneticVariation disease CLINVAR Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. 27246798 2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		0.730 GeneticVariation disease CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016