Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | GeneticVariation | CLINVAR | Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. | 29546359 | 2018 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Genetics of hearing loss in the Arab population of Northern Israel. | 30139988 | 2018 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. | 27771369 | 2017 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. | 28964290 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. | 28281779 | 2017 |
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|
A | 0.800 | GeneticVariation | CLINVAR | An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. | 26763877 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. | 24051746 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive. | 20108392 | 2010 |
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|
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 |
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|
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 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Heterogeneity in the processing defect of SLC26A4 mutants. | 18310264 | 2008 |
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|
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 |
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|
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 |
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|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. | 11748854 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. | 10700480 | 2000 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). | 10861298 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. | 10190331 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | A mutation in PDS causes non-syndromic recessive deafness. | 9500541 | 1998 |
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|
A | 0.800 | GeneticVariation | CLINVAR | A mutation in PDS causes non-syndromic recessive deafness. | 9500541 | 1998 |