Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | GeneticVariation | CLINVAR | Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. | 30675029 | 2019 |
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G | 0.700 | CausalMutation | CLINVAR | Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis. | 26333736 | 2015 |
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G | 0.700 | CausalMutation | CLINVAR | Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. | 24833718 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. | 19293843 | 2009 |
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G | 0.700 | CausalMutation | CLINVAR | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 |
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G | 0.700 | CausalMutation | CLINVAR | Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. | 14695540 | 2004 |
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G | 0.700 | CausalMutation | CLINVAR | Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. | 11700157 | 2001 |
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G | 0.700 | CausalMutation | CLINVAR | Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. | 10464652 | 1999 |