| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Clinical and molecular analysis of three Mexican families with Pendred's syndrome. | 11375792 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | A novel mutation in the pendrin gene associated with Pendred's syndrome. | 10718825 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. | 10878664 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. | 15531480 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. | 11317356 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. | 12788906 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. | 11932316 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular analysis of the PDS gene in Pendred syndrome. | 9618167 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. | 11748854 | 2001 |