Source: ALL

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 BEFREE Mutations in SLC26A4, which encodes pendrin, are responsible for hearing loss with an enlarged vestibular aqueduct and Pendred syndrome. 27109633

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 BEFREE This study thus led to the finding of two novel SLC26A4 genotypes and provides new insight on the phenotypic features associated with PS. 27214836

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
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 25290043

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation 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 GeneticVariation BEFREE The most prevalent mutations in the Han-Chinese population were c.2268insT in the thyroid peroxidase (TPO) gene and c.919-2A>G in the Pendred syndrome (PDS) gene. 25455162

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis. 26683941

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. 25290043

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review. 25999548

2015
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation BEFREE Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. 24007330

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2014