SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
Disease: Pendred's syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation disease CLINVAR Novel mutations in the SLC26A4 gene. 22717225 2012
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease BEFREE Here, we show that mutations in the inwardly rectifying K(+) channel gene KCNJ10 are associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with an EVA/PS phenotype. 19426954 2009
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. 19786220 2009
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation disease CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810 2011
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR Two missense mutations in SLC26A4 gene: a molecular and functional study. 20128824 2010
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436 2004
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome. 16053392 2005
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. 23638949 2013
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. 19287372 2009
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease BEFREE These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease. 9398842 1997
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. 18274916 2008
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. 19040761 2008
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863 2007
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease BEFREE Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. 24007330 2014
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. 25991456 2015
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease BEFREE Pendred syndrome is inherited as an autosomal recessive trait and has recently been mapped to 7q31 coincident with the non-syndromic deafness locus DFNB4. 9039988 1997
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease 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
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease BEFREE Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. 8630497 1996
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease BEFREE Subjects with biallelic GJB2 mutations were tested for mutations in the SLC26A4 gene to rule out Pendred syndrome as a confounding cause of large vestibular aqueduct syndrome. 17146393 2006
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease UNIPROT Because V138F was found in the German patients with Pendred's syndrome on at least one allele, we genotyped five microsatellite markers located in the PDS region. 12788906 2003
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease BEFREE Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly. 14679580 2004
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease CLINVAR Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants. 26752218 2016
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 GeneticVariation disease BEFREE Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). 20597900 2010
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 CausalMutation disease CLINVAR Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 11317356 2001
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		1.000 Biomarker disease BEFREE The PDS gene (SLC26A4) is responsible for Pendred syndrome (PS). 21035230 2011