LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
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: 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: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 Biomarker disease GENOMICS_ENGLAND