| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. | 27866049 | 2017 |
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T | 0.700 | GeneticVariation | CLINVAR | Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. | 23442826 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. | 21309044 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. | 19194475 | 2009 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. | 18348261 | 2008 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. | 15955094 | 2005 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Elastin: mutational spectrum in supravalvular aortic stenosis. | 11175284 | 2000 |
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T | 0.700 | GeneticVariation | CLINVAR | Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. | 10942104 | 2000 |
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T | 0.700 | GeneticVariation | CLINVAR | Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. | 8132745 | 1994 |