| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Loeys-Dietz Syndrome, Type 1a
|
0.800 | GeneticVariation | UNIPROT | Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. | 22113417 | 2012 | |||||
Loeys-Dietz Syndrome, Type 1a
|
0.800 | GeneticVariation | UNIPROT | Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. | 19883511 | 2009 | |||||
Loeys-Dietz Syndrome, Type 1a
|
0.800 | GeneticVariation | UNIPROT | Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. | 16791849 | 2006 | |||||
Loeys-Dietz Syndrome, Type 1a
|
0.800 | GeneticVariation | UNIPROT | Aneurysm syndromes caused by mutations in the TGF-beta receptor. | 16928994 | 2006 | |||||
Loeys-Dietz Syndrome, Type 1a
|
0.800 | GeneticVariation | UNIPROT | FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. | 16596670 | 2006 | |||||
Loeys-Dietz Syndrome, Type 1a
|
0.800 | GeneticVariation | UNIPROT | A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. | 15731757 | 2005 | |||||
Loeys-Dietz Syndrome, Type 1a
|
0.800 | CausalMutation | CLINVAR | ||||||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. | 25944730 | 2015 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome. | 25521989 | 2014 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | TGFβ receptor mutations impose a strong predisposition for human allergic disease. | 23884466 | 2013 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. | 22414221 | 2012 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. | 18781618 | 2008 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. | 16791849 | 2006 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. | 16596670 | 2006 | |||||
Aortic Valve Insufficiency
|
0.700 | CausalMutation | CLINVAR | ||||||||
Mitral Valve Prolapse Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Tooth Crowding
|
0.700 | CausalMutation | CLINVAR | ||||||||
Congenital pectus carinatum
|
0.700 | CausalMutation | CLINVAR | ||||||||
Flatfoot
|
0.700 | CausalMutation | CLINVAR | ||||||||
Disproportionate tall stature
|
0.700 | CausalMutation | CLINVAR | ||||||||
Kyphoscoliosis deformity of spine
|
0.700 | CausalMutation | CLINVAR | ||||||||
Myopia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Aneurysm of aortic root
|
0.700 | CausalMutation | CLINVAR | ||||||||
Tricuspid Valve Prolapse
|
0.700 | CausalMutation | CLINVAR |