| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV. | 7912131 | 1994 |
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|
A | 0.800 | CausalMutation | CLINVAR | The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. | 25758994 | 2015 |
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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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|
A | 0.800 | CausalMutation | CLINVAR | Collagen structure and stability. | 19344236 | 2009 |
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|
A | 0.800 | CausalMutation | CLINVAR | Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). | 24922459 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. | 10923041 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. | 24882528 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV. | 7749417 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. | 10706896 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. | 8019562 | 1994 |