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: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.710 CausalMutation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.710 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: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		0.710 GeneticVariation BEFREE A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. 19875893 2009
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.710 CausalMutation CLINVAR Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 18781618 2008
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.710 CausalMutation CLINVAR Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. 17330129 2007
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.710 CausalMutation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757 2005
dbSNP: rs863223857
rs863223857
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		G 0.700 GeneticVariation CLINVAR Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing. 28182693 2017
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: rs727503476
rs727503476
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 GeneticVariation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
dbSNP: rs727504292
rs727504292
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		C 0.700 CausalMutation CLINVAR We report a 7-year-old Japanese boy with Loeys-Dietz syndrome who carried a novel, de novo missense mutation in TGFBR2 (c.1142g > c, R381P). 24220024 2013
dbSNP: rs863223857
rs863223857
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		G 0.700 GeneticVariation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
dbSNP: rs869025537
rs869025537
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
dbSNP: rs869025537
rs869025537
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013
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: rs727504292
rs727504292
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		C 0.700 CausalMutation CLINVAR Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations. 22095581 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: rs869025537
rs869025537
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). 18852674 2009
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: rs104893815
rs104893815
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		A 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 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
dbSNP: rs397516840
rs397516840
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 GeneticVariation CLINVAR TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921 2006
dbSNP: rs397516840
rs397516840
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 GeneticVariation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
dbSNP: rs587782979
rs587782979
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		A 0.700 GeneticVariation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
dbSNP: rs727503476
rs727503476
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome 		T 0.700 GeneticVariation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006