| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Genetic testing of 248 Chinese aortopathy patients using a panel assay. | 27611364 | 2016 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. | 27146836 | 2016 | |||||
Marfan Syndrome
|
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 | Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis. | 26333736 | 2015 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. | 24833718 | 2014 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. | 24161884 | 2014 | |||||
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 | Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. | 19159394 | 2009 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. | 19293843 | 2009 | |||||
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 | 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 | Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. | 14695540 | 2004 | |||||
Marfan Syndrome
|
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 | |||||
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 | |||||
Marfan Syndrome
|
0.700 | GeneticVariation | CLINVAR |