Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. | 24051746 | 2013 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. | 28964290 | 2017 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. | 11919333 | 2002 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Two frequent missense mutations in Pendred syndrome. | 9618166 | 1998 |
|||
|
0.800 | GeneticVariation | UNIPROT | Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. | 14679580 | 2004 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. | 28604962 | 2017 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. | 26763877 | 2016 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. | 19786220 | 2009 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. | 27771369 | 2017 |
|||
|
0.800 | GeneticVariation | UNIPROT | Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. | 11748854 | 2001 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. | 24007330 | 2014 |
|||
|
0.800 | GeneticVariation | UNIPROT | Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? | 19204907 | 2009 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province. | 30693673 | 2019 |
|||
|
T | 0.800 | GeneticVariation | 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 |
|||
|
0.800 | GeneticVariation | UNIPROT | Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. | 14508505 | 2003 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations. | 24338212 | 2014 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II. | 25468468 | 2014 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | [An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China]. | 20842945 | 2010 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. | 24224479 | 2014 |
|||
|
0.800 | GeneticVariation | UNIPROT | A mutation in PDS causes non-syndromic recessive deafness. | 9500541 | 1998 |
||||
|
0.800 | GeneticVariation | UNIPROT | Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. | 10700480 | 2000 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. | 25266519 | 2014 |
|||
|
0.800 | GeneticVariation | UNIPROT | Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. | 12676893 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). | 20597900 | 2010 |
||||
|
0.800 | GeneticVariation | UNIPROT | Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive. | 20108392 | 2010 |