| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. | 24161884 | 2014 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. | 21542060 | 2011 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. | 17701892 | 2007 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 | |||||
Marfan Syndrome
|
0.800 | 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
|
0.800 | CausalMutation | CLINVAR | Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. | 10533071 | 1999 | |||||
Marfan Syndrome
|
0.800 | CausalMutation | CLINVAR | Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. | 10464652 | 1999 | |||||
Marfan Syndrome
|
0.800 | GeneticVariation | UNIPROT | ||||||||
Marfan Syndrome
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Familial thoracic aortic aneurysm and aortic dissection
|
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 | 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 | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. | 17701892 | 2007 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
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 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. | 10533071 | 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 | ||||||||
MARFAN LIPODYSTROPHY SYNDROME
|
0.700 | CausalMutation | CLINVAR | ||||||||
GELEOPHYSIC DYSPLASIA 2
|
0.700 | CausalMutation | CLINVAR | ||||||||
OVERLAP CONNECTIVE TISSUE DISEASE
|
0.700 | CausalMutation | CLINVAR | ||||||||
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
|
0.700 | CausalMutation | CLINVAR | ||||||||
Stiff Skin Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Weill-Marchesani Syndrome, Autosomal Dominant
|
0.700 | CausalMutation | CLINVAR |