Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
dbSNP: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 18084123 2007
dbSNP: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. 17652900 2007
dbSNP: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
dbSNP: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604 2004