| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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 | Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. | 21542060 | 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 | Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. | 17663468 | 2007 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. | 16835936 | 2006 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. | 16222657 | 2005 | |||||
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 | Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations. | 12402346 | 2002 | |||||
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 | Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. | 10533071 | 1999 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. | 7611299 | 1995 | |||||
Marfan Syndrome
|
0.700 | GeneticVariation | CLINVAR |