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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.050 GeneticVariation group BEFREE No significant relationship was observed between FBN1 genotypes and the incidence of cardiovascular disease or all-cause mortality. 24837032 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.050 Biomarker group BEFREE The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease. 22942299 2013
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.050 Biomarker group BEFREE FBN1 encoding fibrillin-1 is a responsible gene for Marfan syndrome type 1 (MIM #154700), characterized by increased height and long limbs, ectopia lentis, and cardiovascular disorders, such as mitral valve prolapse and aortic dilation and regurgitation. 19199346 2009
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.050 GeneticVariation group BEFREE Fibrillin-1 (FBN-1) is the disease gene for Marfan's syndrome and an FBN-1 polymorphism has been associated with large artery stiffening and elevated pulse pressure (PP) in patients with cardiovascular disease. 16467653 2006
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.050 GeneticVariation group LHGDN In conclusion, the fibrillin-1 2-3 genotype in men was associated with increased aortic stiffness and pulse pressure, indicative of an increased risk for cardiovascular disease. 16103519 2005
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.050 GeneticVariation group BEFREE In conclusion, the fibrillin-1 2-3 genotype in men was associated with increased aortic stiffness and pulse pressure, indicative of an increased risk for cardiovascular disease. 16103519 2005