Gene: TGFBR1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		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: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 Biomarker disease CLINGEN Smooth muscle cell-specific Tgfbr1 deficiency promotes aortic aneurysm formation by stimulating multiple signaling events. 27739498 2016
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 Biomarker disease CLINGEN Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. 27146836 2016
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 Biomarker disease CLINGEN Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. 26188975 2015
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 25944730 2015
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. 25110237 2014
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 Biomarker disease CLINGEN Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. 24355923 2014
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). 24793577 2014
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome. 25521989 2014
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. 22414221 2012
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 Biomarker disease CLINGEN TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. 22414221 2012
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		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: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634 2011
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 Biomarker disease CLINGEN Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 19542084 2009
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 19542084 2009
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Aortic dissection in a young man with Loeys-Dietz syndrome. 18455604 2008
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease 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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 Biomarker disease CLINGEN 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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994 2006
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 Biomarker disease CLINGEN Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849 2006
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670 2006
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.600 CausalMutation disease CLINVAR Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849 2006