| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. | 24199744 | 2014 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. | 24199744 | 2014 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. | 19863550 | 2010 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. | 19863550 | 2010 | |||||
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 | Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. | 16220557 | 2005 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. | 16220557 | 2005 | |||||
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 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
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 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Marfan Syndrome
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Marfan Syndrome
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Ehlers-Danlos Syndrome, Type IV
|
0.010 | GeneticVariation | BEFREE | Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation. | 25776230 | 2015 |