Disease: Loeys-Dietz Syndrome ×
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: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 CausalMutation CLINVAR International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 27879313 2016
dbSNP: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		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: C2697932
Disease:
Loeys-Dietz Syndrome 		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: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 CausalMutation CLINVAR A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. 17935258 2008
dbSNP: rs104893819
rs104893819
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		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: C2697932
Disease:
Loeys-Dietz Syndrome 		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: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 GeneticVariation CLINVAR