Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 Biomarker disease GENOMICS_ENGLAND FBN1 mutations in patients with descending thoracic aortic dissections. 20082464 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 GeneticVariation disease UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824 2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 GeneticVariation disease UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022 2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 GeneticVariation disease UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992 2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 GeneticVariation disease UNIPROT Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157 2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 Biomarker disease GENOMICS_ENGLAND A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 GeneticVariation disease UNIPROT A novel mutation of the fibrillin gene causing ectopia lentis. 8188302 1994
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 Biomarker disease GENOMICS_ENGLAND Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497 1993
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 Biomarker disease GENOMICS_ENGLAND Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. 1301946 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 CausalMutation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 GeneticVariation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.700 Biomarker disease CTD_human