rs397514558, FBN1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ectopia lentis isolated
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
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
0.700 CausalMutation CLINVAR
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 GeneticVariation CLINVAR
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR