Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.030 Biomarker BEFREE Deficient circumferential growth is the predominant mechanism for moderate obstructive aortic disease resulting from partial elastin deficiency. 28254817

2017
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.030 Biomarker BEFREE These data suggest that a missense mutation in LOX is associated with aortic disease in humans, likely through insufficient cross-linking of elastin and collagen in the aortic wall. 27432961

2016
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		0.030 GeneticVariation BEFREE ELN mutations may cause severe aortic disease in patients with cutis laxa. 16085695

2006