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: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. 25900864 2015
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis. 22950452 2013
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE Dominant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syndrome). 21989719 2012
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 Biomarker disease BEFREE Mutations in ADAMTSL4 appear to cause earlier manifestation of EL and are associated with increased axial length as compared to FBN1. 22736615 2012
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. 22539873 2012
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis. 22219643 2011
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani syndrome (WMS), isolated ectopia lentis (IEL), or the fibrotic condition, geleophysic dysplasia (GD). 21858451 2011
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE Late-onset isolated ectopia lentis with secondary glaucoma is consistent with a novel mutation in FBN1. 18615205 2008
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE A recurrent mutation of FBN1 gene resulted in an arginine-to-cysteine residue (p.R62C), is responsible for the patients with isolated ectopia lentis in a Chinese family. 16765689 2006
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GeneticVariation disease BEFREE FBN1 mutations have been found not only in MFS but also in a range of connective tissue disorders collectively termed fibrillinopathies ranging from mild phenotypes, such as isolated ectopia lentis, to severe disorders including neonatal MFS, which generally leads to death within the first two years of life. 12203987 2002
CUI: C1851286
Disease: Ectopia lentis isolated
Ectopia lentis isolated
0.400 GermlineCausalMutation disease ORPHANET