| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness. | 26773575 | 2016 |
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0.010 | GeneticVariation | BEFREE | Hearing loss is related to the gene polymorphisms, with the Wolfram syndrome type 1 gene (T2500C), interleukin-4 receptor α chain (Q576R) and chloride channel-Kb (T481S) polymorphisms being most related to NIHL. | 22240535 | 2012 |
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0.010 | GeneticVariation | BEFREE | Targeted exome sequencing revealed a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome. | 22226368 | 2012 |
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0.010 | GeneticVariation | BEFREE | WFS1 variants were identified in eight subjects from seven families with WS, leading to the identification of four novel mutations, Q194X (nonsense), H313Y (missense), L313fsX360 (duplication frame shift) and F883fsX951 (deletion frame shift), and four previously reported mutations, A133T and L543R (missense), V415del (in frame triple deletion) and F883fsX950 (deletion frame shift). | 16151413 | 2005 |
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0.010 | GeneticVariation | BEFREE | WFS1 variants were identified in eight subjects from seven families with WS, leading to the identification of four novel mutations, Q194X (nonsense), H313Y (missense), L313fsX360 (duplication frame shift) and F883fsX951 (deletion frame shift), and four previously reported mutations, A133T and L543R (missense), V415del (in frame triple deletion) and F883fsX950 (deletion frame shift). | 16151413 | 2005 |
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0.010 | GeneticVariation | BEFREE | Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. | 10679252 | 2000 |
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0.010 | GeneticVariation | BEFREE | Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. | 10679252 | 2000 |