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: rs104893816
rs104893816
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? 21267002 2011
dbSNP: rs104893816
rs104893816
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638 2010
dbSNP: rs104893816
rs104893816
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. 17935258 2008
dbSNP: rs104893816
rs104893816
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 16027248 2005