| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. | 8514866 | 1993 |
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|
0.800 | GeneticVariation | UNIPROT | Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. | 2808425 | 1989 |
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|
0.800 | GeneticVariation | UNIPROT | Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. | 25355838 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. | 12694234 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. | 1496983 | 1992 |
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|
0.800 | GeneticVariation | UNIPROT | A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. | 2243125 | 1990 |
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|
0.800 | GeneticVariation | UNIPROT | A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV. | 9452103 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 |