Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 GeneticVariation 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. 26188975

2015
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. 24355923

2014
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome. 25521989

2014
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466

2013
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. 22414221

2012
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417

2012
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. 22414221

2012
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR Aortic dissection in a young man with Loeys-Dietz syndrome. 18455604

2008
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 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
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker 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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670

2006
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849

2006