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: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
0.110 AlteredExpression disease BEFREE This suggests a deficiency at the level of lysyl hydroxylase (PLOD1), which was confirmed by mRNA and protein analyses that showed reduced PLOD1 expression but normal lysyl oxidase expression in dilated aortas from patients with BAV. 23525417 2013
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
0.110 Biomarker disease HPO