Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.700 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: 4015
Gene Symbol: LOX
LOX 		0.700 GeneticVariation disease CLINVAR LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.700 Biomarker disease CLINGEN Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.700 GermlineCausalMutation disease ORPHANET Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.700 GermlineCausalMutation disease ORPHANET LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.700 GeneticVariation disease CLINVAR Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.700 Biomarker disease CLINGEN LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.700 GermlineCausalMutation disease ORPHANET Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.700 Biomarker disease CLINGEN Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445 2015
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.700 GermlineCausalMutation disease 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 		0.700 Biomarker disease 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 		0.700 Biomarker disease 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 		0.700 Biomarker disease CLINGEN Lysyl oxidase is required for vascular and diaphragmatic development in mice. 12473682 2003
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.700 Biomarker disease 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 		0.700 Biomarker disease CLINGEN Immunohistochemical localization of lysyl oxidase with monoclonal antibodies. 1975633 1990
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4015
Gene Symbol: LOX
LOX 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.600 CausalMutation disease 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 		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: 4088
Gene Symbol: SMAD3
SMAD3 		0.600 CausalMutation 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: 4088
Gene Symbol: SMAD3
SMAD3 		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: 4629
Gene Symbol: MYH11
MYH11 		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: 2200
Gene Symbol: FBN1
FBN1 		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 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