LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		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
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 GeneticVariation disease UNIPROT Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 Biomarker disease GENOMICS_ENGLAND Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 GeneticVariation disease UNIPROT LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GeneticVariation disease CLINVAR LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker disease CLINGEN Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GermlineCausalMutation disease ORPHANET Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GermlineCausalMutation disease ORPHANET LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 GeneticVariation disease CLINVAR Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 27432961 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker disease CLINGEN LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. 26838787 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker disease CLINGEN Lysyl oxidase is required for vascular and diaphragmatic development in mice. 12473682 2003
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker disease CLINGEN Immunohistochemical localization of lysyl oxidase with monoclonal antibodies. 1975633 1990
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 Biomarker disease CTD_human
CUI: C4284414
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10
AORTIC ANEURYSM, FAMILIAL THORACIC 10 		0.700 CausalMutation disease CLINVAR
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.400 Biomarker disease CTD_human Usefulness of carvedilol in the treatment of chronic aortic valve regurgitation. 21216836 2011
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.400 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.370 AlteredExpression group BEFREE The alteration of LOX/LOXLs expression underlies the development of other vascular pathologies characterized by a destructive remodeling of the ECM, such as aneurysm and artery dissections, and contributes to the adverse myocardial remodeling and dysfunction in hypertension, myocardial infarction, and obesity. 31615160 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.370 Biomarker group BEFREE Lysyl oxidase-a possible role in systemic sclerosis-associated pulmonary hypertension: a multicentre study. 30770717 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.370 AlteredExpression group BEFREE Hypercapnia downregulates hypoxia-induced LOX expression and alleviates hypoxia-associated pulmonary hypertension via inhibiting TGF-β<sub>1</sub> signalling. 30917408 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.370 AlteredExpression group BEFREE LOX is upregulated in hypertension, increasing vascular stiffness. 29167120 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.370 Biomarker group BEFREE We identify LOX as a novel source of vascular reactive oxygen species and a new pathway involved in vascular stiffness and elastin remodeling in hypertension. 28010122 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.370 Biomarker group BEFREE Our aim was to investigate the differential influence of losartan metabolites on myocardial LOX and CCL in an experimental model of hypertension with myocardial fibrosis, and whether EXP3179 and EXP3174 modify LOX expression and activity in fibroblasts. 28157237 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.370 GeneticVariation group BEFREE This study also could not observe any significant role of LOX polymorphisms in influencing IA either directly or indirectly through its confounding factors such as hypertension and gender in South Indian population. 24065528 2013