Gene: TGFBR2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 GeneticVariation disease CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Extreme phenotypes of Loeys Dietz syndrome. 28225382 2017
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 27879313 2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ. 27508510 2016
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 Biomarker disease CLINGEN Postnatal Deletion of the Type II Transforming Growth Factor-β Receptor in Smooth Muscle Cells Causes Severe Aortopathy in Mice. 26494233 2015
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 Biomarker disease CLINGEN Novel TGFBR2 and known missense SMAD3 mutations: two case reports of thoracic aortic aneurysms. 25555948 2015
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 25644172 2015
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 Biomarker disease CLINGEN Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. 24355923 2014
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 Biomarker disease CLINGEN Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis. 24401272 2014
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. 25116393 2014
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 GeneticVariation disease CLINVAR Primary peripheral retinal nonperfusion in a family with Loeys-Dietz syndrome. 24792536 2014
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 GeneticVariation disease CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 GeneticVariation disease 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
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 GeneticVariation disease CLINVAR Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study. 22259224 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 Biomarker disease CLINGEN Transforming growth factor-β signaling in myogenic cells regulates vascular morphogenesis, differentiation, and matrix synthesis. 21979435 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. 22488992 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Multiple facial milia in patients with Loeys-Dietz syndrome. 20956634 2011
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? 21267002 2011
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms. 20829218 2011
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638 2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 Biomarker disease CLINGEN TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. 20628007 2010
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.600 CausalMutation disease CLINVAR The Loeys-Dietz syndrome: an update for the clinician. 20838339 2010