Source: ALL

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 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: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GeneticVariation CLINVAR 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 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 GeneticVariation CLINVAR 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 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 GeneticVariation CLINVAR

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: 2200
Gene Symbol: FBN1
FBN1
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation CLINVAR A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis. 28098115

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 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: 4088
Gene Symbol: SMAD3
SMAD3
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 CausalMutation 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: 4088
Gene Symbol: SMAD3
SMAD3
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: 4629
Gene Symbol: MYH11
MYH11
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: 2200
Gene Symbol: FBN1
FBN1
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: 7048
Gene Symbol: TGFBR2
TGFBR2
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