LOX, lysyl oxidase, 4015

N. diseases: 328; N. variants: 14
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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