| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | BEFREE | The R345W mutation in EFEMP1 causes malattia leventinese, an autosomal dominant eye disease with pathogenesis similar to an early-onset age-related macular degeneration. | 31095679 | 2019 |
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0.090 | GeneticVariation | BEFREE | The mutation R345W in EFEMP1 (fibulin-3) causes macular degeneration. | 28622396 | 2017 |
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0.090 | GeneticVariation | BEFREE | An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. | 27777122 | 2016 |
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|
0.090 | GeneticVariation | BEFREE | An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML). | 25481286 | 2015 |
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0.090 | GeneticVariation | BEFREE | An R345W mutation in fibulin-3 causes its inefficient secretion, increased intracellular steady-state levels, and the macular dystrophy, Malattia Leventinese (ML), a disease similar to age-related macular degeneration. | 23230284 | 2013 |
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|
0.090 | GeneticVariation | BEFREE | This study highlights the mechanisms underlying the inefficient secretion of R345W EFEMP1 and demonstrates that alteration of the proteostasis network may provide a strategy to alleviate or delay the onset of this macular dystrophy. | 22031286 | 2011 |
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|
0.090 | GeneticVariation | BEFREE | The mutant Efemp1-R345W mice develop deposits of material between Bruch's membrane and the RPE, which resemble basal deposits in patients with AMD. | 17666404 | 2007 |
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|
0.090 | GeneticVariation | BEFREE | The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD. | 15218514 | 2005 |
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|
0.090 | GeneticVariation | BEFREE | Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration. | 12427233 | 2002 |