FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Lens Subluxation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		0.130 GeneticVariation disease BEFREE We report the results of routine FBN1 sequencing for children from inbred families referred with nontraumatic lens subluxation without cataract or vitreoretinal degeneration. 24698609 2014
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		0.130 GeneticVariation disease BEFREE He subsequently was diagnosed with bilateral lens subluxations at the age of 16 years which prompted analysis of the FBN1 gene. 21594992 2011
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		0.130 GeneticVariation disease LHGDN Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1. 18615205 2008
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		0.130 CausalMutation disease CLINVAR
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		0.130 GeneticVariation disease CLINVAR