LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886040965
rs886040965
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 GeneticVariation UNIPROT Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
dbSNP: rs886040965
rs886040965
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 GeneticVariation UNIPROT LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
dbSNP: rs886040967
rs886040967
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 GeneticVariation UNIPROT Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
dbSNP: rs886040967
rs886040967
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 GeneticVariation UNIPROT LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
dbSNP: rs876657852
rs876657852
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.800 GeneticVariation UNIPROT
dbSNP: rs876657852
rs876657852
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		C 0.800 CausalMutation CLINVAR
dbSNP: rs886040965
rs886040965
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886040967
rs886040967
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1800449
rs1800449
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C1956346
Disease:
Coronary Artery Disease 		T 0.710 GeneticVariation GWASCAT Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease. 28714974 2017
dbSNP: rs1800449
rs1800449
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C1956346
Disease:
Coronary Artery Disease 		0.710 GeneticVariation BEFREE Our data suggest that the G473A polymorphism of LOX gene is associated with increased susceptibility to CAD. 21612403 2011
dbSNP: rs886040966
rs886040966
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 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
dbSNP: rs876657852
rs876657852
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 GeneticVariation CLINVAR LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
dbSNP: rs876657852
rs876657852
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		C 0.700 GeneticVariation CLINVAR Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
dbSNP: rs886040966
rs886040966
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
dbSNP: rs1473260982
rs1473260982
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C0345050
Disease:
Congenital aneurysm of ascending aorta 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1561417568
rs1561417568
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C0345050
Disease:
Congenital aneurysm of ascending aorta 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1561420103
rs1561420103
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C0345050
Disease:
Congenital aneurysm of ascending aorta 		A 0.700 CausalMutation CLINVAR
dbSNP: rs752839330
rs752839330
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 GeneticVariation UNIPROT
dbSNP: rs767855588
rs767855588
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 GeneticVariation UNIPROT
dbSNP: rs886040965
rs886040965
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C0345050
Disease:
Congenital aneurysm of ascending aorta 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886040966
rs886040966
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C0345050
Disease:
Congenital aneurysm of ascending aorta 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886040966
rs886040966
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C4284414
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886040967
rs886040967
Entrez Id: 4015;153443
Gene Symbol: LOX;SRFBP1
LOX;SRFBP1
CUI: C0345050
Disease:
Congenital aneurysm of ascending aorta 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1800449
rs1800449
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE Our study demonstrated that the LOX rs1800449 genotypes (AA and GA + AA) and allele (A) appears to confer risk for susceptibility to keratoconus. 24502826 2015
dbSNP: rs1800449
rs1800449
Entrez Id: 4015
Gene Symbol: LOX
LOX
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE In contrast, our study lacked sufficient evidences to support the association of rs1800449/rs2288393 with keratoconus across populations. 26713757 2015