FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture
0.310 Biomarker disease CTD_human Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. 18178469 2008
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture
0.310 GeneticVariation disease BEFREE Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation. 26905825 2016