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
Congenital aneurysm of ascending aorta
0.130 GeneticVariation disease BEFREE A FBN1 mutation was detected in four members of a multigeneration family with AAE, however. 11826022 2002
Congenital aneurysm of ascending aorta
0.130 GeneticVariation disease BEFREE Familial aortic aneurysm (FAA) has been described in such conditions as the Marfan and Ehlers-Danlos type IV syndromes, due to defects in the fibrillin-1 and type III procollagen genes, respectively. 11369687 2001
Congenital aneurysm of ascending aorta
0.130 Biomarker disease BEFREE FBN1 sequencing should be considered in individuals with FTAAD even without significant systemic features of MFS. 26621581 2016
Congenital aneurysm of ascending aorta
0.130 GeneticVariation disease CLINVAR