| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | BEFREE | Comment to Santos et al., "hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype". | 25620160 | 2015 |
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0.020 | GeneticVariation | BEFREE | Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype. | 24656624 | 2014 |
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|
0.020 | GeneticVariation | BEFREE | One patient with HIDS and FMF presented with atypical overlapping PFS clinical manifestations and genetic evaluation showed a unique combination of p.I268T/p.V377I MVK mutations and p.E230K/-MEFV variant. | 24233262 | 2014 |
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|
0.020 | GeneticVariation | BEFREE | Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome. | 11325608 | 2001 |
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|
0.010 | GeneticVariation | BEFREE | One patient with HIDS and FMF presented with atypical overlapping PFS clinical manifestations and genetic evaluation showed a unique combination of p.I268T/p.V377I MVK mutations and p.E230K/-MEFV variant. | 24233262 | 2014 |
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|
0.010 | GeneticVariation | BEFREE | One patient with HIDS and FMF presented with atypical overlapping PFS clinical manifestations and genetic evaluation showed a unique combination of p.I268T/p.V377I MVK mutations and p.E230K/-MEFV variant. | 24233262 | 2014 |
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|
0.010 | GeneticVariation | BEFREE | One patient with HIDS and FMF presented with atypical overlapping PFS clinical manifestations and genetic evaluation showed a unique combination of p.I268T/p.V377I MVK mutations and p.E230K/-MEFV variant. | 24233262 | 2014 |
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|
0.010 | GeneticVariation | BEFREE | Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. | 23166428 | 2012 |