×
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