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 CausalMutation CLINVAR Novel mutations in the SLC26A4 gene. 22717225

2012
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 19786220

2009
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Two missense mutations in SLC26A4 gene: a molecular and functional study. 20128824

2010
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436

2004
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome. 16053392

2005
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. 23638949

2013
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. 19287372

2009
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. 18274916

2008
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. 19040761

2008
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007
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 SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 15689455

2005
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 Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 11317356

2001
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. 17851929

2007
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 23965030

2013
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989

2006
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013
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 Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 24949729

2014
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. 20583162

2010
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation CLINVAR Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China. 24341454

2013
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007
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