| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. | 22113417 | 2012 |
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|
0.700 | GeneticVariation | UNIPROT | A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. | 21949523 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. | 20101701 | 2010 |
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|
0.700 | GeneticVariation | UNIPROT | Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. | 20358619 | 2010 |
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|
0.700 | GeneticVariation | UNIPROT | Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. | 19533785 | 2009 |
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|
0.700 | GeneticVariation | UNIPROT | Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. | 19883511 | 2009 |
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|
0.700 | GeneticVariation | UNIPROT | Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. | 16251899 | 2006 |
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|
0.700 | GeneticVariation | UNIPROT | Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. | 16027248 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. | 15731757 | 2005 |
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|
0.700 | GeneticVariation | UNIPROT | Heterozygous TGFBR2 mutations in Marfan syndrome. | 15235604 | 2004 |