| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. | 25907466 | 2015 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. | 25907466 | 2015 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. | 25101912 | 2015 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. | 25101912 | 2015 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. | 24161884 | 2014 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. | 21907952 | 2011 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. | 21907952 | 2011 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. | 21542060 | 2011 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. | 17627385 | 2007 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. | 17627385 | 2007 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. | 10464652 | 1999 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. | 10464652 | 1999 | |||||
Acromicric Dysplasia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Aneurysm
|
0.700 | GeneticVariation | CLINVAR | ||||||||
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.700 | CausalMutation | CLINVAR | ||||||||
Marfan Syndrome
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Weill-Marchesani Syndrome, Autosomal Dominant
|
0.700 | CausalMutation | CLINVAR | ||||||||
Stiff Skin Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
MARFAN LIPODYSTROPHY SYNDROME
|
0.700 | CausalMutation | CLINVAR | ||||||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | GeneticVariation | CLINVAR | ||||||||
GELEOPHYSIC DYSPLASIA 2
|
0.700 | CausalMutation | CLINVAR | ||||||||
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
0.700 | CausalMutation | CLINVAR |