| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). | 24793577 | 2014 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). | 24793577 | 2014 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. | 22736615 | 2012 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. | 22736615 | 2012 | |||||
Marfan Syndrome
|
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 | 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
|
0.700 | CausalMutation | CLINVAR | The molecular genetics of Marfan syndrome and related disorders. | 16571647 | 2006 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Fibrillin-1 misfolding and disease. | 16677079 | 2006 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Fibrillin-1 misfolding and disease. | 16677079 | 2006 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | The molecular genetics of Marfan syndrome and related disorders. | 16571647 | 2006 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. | 10486319 | 1999 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. | 10486319 | 1999 | |||||
Marfan Syndrome
|
0.700 | GeneticVariation | CLINVAR | Marfan Database (third edition): new mutations and new routines for the software. | 9399842 | 1998 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | The solution structure of human epidermal growth factor. | 3495735 | 1987 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | The solution structure of human epidermal growth factor. | 3495735 | 1987 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | Epidermal growth factor. Location of disulfide bonds. | 4750422 | 1973 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Epidermal growth factor. Location of disulfide bonds. | 4750422 | 1973 | |||||
Mitral Valve Prolapse Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Tooth Crowding
|
0.700 | CausalMutation | CLINVAR | ||||||||
Retinal Detachment
|
0.700 | CausalMutation | CLINVAR | ||||||||
Mitral Valve Insufficiency
|
0.700 | CausalMutation | CLINVAR | ||||||||
Arachnodactyly
|
0.700 | CausalMutation | CLINVAR | ||||||||
Kyphoscoliosis deformity of spine
|
0.700 | CausalMutation | CLINVAR | ||||||||
Facial asymmetry
|
0.700 | CausalMutation | CLINVAR |