Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322

2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. 21594993

2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. 21594992

2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 20979188

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The revised Ghent nosology for the Marfan syndrome. 20591885

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The revised Ghent nosology for the Marfan syndrome. 20591885

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 20979188

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Molecular pathology of Shprintzen-Goldberg syndrome. 16333834

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Molecular pathology of Shprintzen-Goldberg syndrome. 16333834

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Genetic basis of thoracic aortic aneurysms and aortic dissections. 16273536

2005
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Genetic basis of thoracic aortic aneurysms and aortic dissections. 16273536

2005
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003