Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations. 27090054

2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR A frequent oligogenic involvement in congenital hypothyroidism. 28444304

2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. 27771369

2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Genetic causes of moderate to severe hearing loss point to modifiers. 27573290

2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. 28604962

2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns. 27541434

2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Atypical patterns of segregation of familial enlargement of the vestibular aqueduct. 26485571

2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Application of SNPscan in Genetic Screening for Common Hearing Loss Genes. 27792752

2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. 26397989

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Challenges and solutions for gene identification in the presence of familial locus heterogeneity. 25491636

2015