| 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 importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 | |||||
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 | |||||
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 | |||||
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 | 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 | 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 | 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 | |||||
Marfan Syndrome
|
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 | 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 | |||||
Familial thoracic aortic aneurysm and aortic dissection
|
0.700 | CausalMutation | CLINVAR | The solution structure of human epidermal growth factor. | 3495735 | 1987 | |||||
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 | Epidermal growth factor. Location of disulfide bonds. | 4750422 | 1973 | |||||
Marfan Syndrome
|
0.700 | CausalMutation | CLINVAR | Epidermal growth factor. Location of disulfide bonds. | 4750422 | 1973 |