| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. | 26854927 | 2016 | |||||||
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0.800 | GeneticVariation | UNIPROT | FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. | 26854927 | 2016 | |||||||
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C | 0.800 | SusceptibilityMutation | CLINVAR | |||||||||
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A | 0.800 | SusceptibilityMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease. | 25504734 | 2015 | |||||||
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0.700 | GeneticVariation | UNIPROT | Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. | 19708017 | 2009 | |||||||
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0.700 | GeneticVariation | UNIPROT | Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. | 16826526 | 2006 | |||||||
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0.700 | GeneticVariation | UNIPROT | Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. | 11980846 | 2002 | |||||||
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0.700 | GeneticVariation | UNIPROT | Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. | 11159941 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | The aphakia phenotype suggested a mutation in FOXE3 close to the AR-locus 1p34.3-p32.2, and sequence analyses revealed the nonsense mutation c.720C>A, changing cysteine 240 to a stop codon. | 20361012 | 2010 | |||||||
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0.010 | GeneticVariation | BEFREE | The previously reported c.720C > A (p.C240X) nonsense mutation was identified in two additional families in our sample and therefore appears to be recurrent, now reported in three independent microphthalmia families of varied ethnic backgrounds. | 20140963 | 2010 |