Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.120 AlteredExpression disease BEFREE We designed this study to investigate the hypothesis that the diaphragmatic expression of fibrillin-1 is decreased in the MCT of nitrofen-induced CDH. 27522124 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.120 GeneticVariation disease BEFREE Since only two other cases of familial CDH have been described in association with FBN1 mutations, we investigated an oligogenic hypothesis by examining ES data for deleterious sequence changes in other CDH-related genes. 25736269 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.120 CausalMutation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.120 GeneticVariation disease CLINVAR