Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case. | 24462758 | 2014 |
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0.700 | GeneticVariation | UNIPROT | Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. | 25388789 | 2014 |
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0.700 | GeneticVariation | UNIPROT | Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss. | 21356526 | 2011 |
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0.700 | GeneticVariation | UNIPROT | Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. | 18688868 | 2008 |
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0.700 | GeneticVariation | UNIPROT | A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. | 18518985 | 2008 |
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0.700 | GeneticVariation | UNIPROT | A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment. | 17517145 | 2007 |
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0.700 | GeneticVariation | UNIPROT | Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. | 12181639 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. | 11709537 | 2001 |
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0.700 | GeneticVariation | UNIPROT | Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. | 11709538 | 2001 |