FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Ectopia lentis isolated ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs25403
rs25403
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1851286
Disease:
Ectopia lentis isolated 		0.020 GeneticVariation BEFREE Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis. 22950452 2013
dbSNP: rs25403
rs25403
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1851286
Disease:
Ectopia lentis isolated 		0.020 GeneticVariation 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
dbSNP: rs397514558
rs397514558
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1851286
Disease:
Ectopia lentis isolated 		0.010 GeneticVariation BEFREE A novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which is responsible for the patients with isolated EL in this Chinese family. 22539873 2012
dbSNP: rs137854480
rs137854480
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C1851286
Disease:
Ectopia lentis isolated 		0.010 GeneticVariation BEFREE The results of the present study provide convincing evidence for a correlation of R240C and isolated ectopia lentis. 18079676 2007