rs137854462, FBN1

N. diseases: 1
Disease: Marfan Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.810 GeneticVariation UNIPROT Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. 7951214 1994
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.810 GeneticVariation UNIPROT Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. 8004112 1994
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.810 GeneticVariation UNIPROT A new missense mutation of fibrillin in a patient with Marfan syndrome. 8071963 1994
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.810 GeneticVariation UNIPROT A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. 7870075 1994
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.810 GeneticVariation UNIPROT Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. 8281141 1993
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.810 GeneticVariation UNIPROT Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497 1993
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.810 CausalMutation CLINVAR