Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961

2016
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GermlineCausalMutation ORPHANET Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961

2016
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GermlineCausalMutation ORPHANET LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787

2016
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787

2016
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GermlineCausalMutation ORPHANET Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GermlineCausalMutation ORPHANET A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 23824657

2013
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. 23824657

2013
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN Overexpression of transforming growth factor-beta is associated with increased hyaluronan content and impairment of repair in Marfan syndrome aortic aneurysm. 16820603

2006
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN Lysyl oxidase is required for vascular and diaphragmatic development in mice. 12473682

2003
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN Inactivation of the lysyl oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice. 12417550

2002
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker CLINGEN Immunohistochemical localization of lysyl oxidase with monoclonal antibodies. 1975633

1990
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker GENOMICS_ENGLAND

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: 5592
Gene Symbol: PRKG1
PRKG1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN PRKG1 and genetic diagnosis of early-onset thoracic aortic disease. 27442293

2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Notch-dependent EMT is attenuated in patients with aortic aneurysm and bicuspid aortic valve. 26876948

2016
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 GermlineCausalMutation ORPHANET FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 26854927

2016
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Autoregulatory Control of Smooth Muscle Myosin Light Chain Kinase Promoter by Notch Signaling. 26703474

2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. 26820064

2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin. 27551047

2016
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. 26854927

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: 4638
Gene Symbol: MYLK
MYLK
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. 25907466

2015
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker CLINGEN Postnatal Deletion of the Type II Transforming Growth Factor-β Receptor in Smooth Muscle Cells Causes Severe Aortopathy in Mice. 26494233

2015