Gene: FBN1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. 23278365 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 24039054 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. 23278365 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 24039054 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation group CLINVAR Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. 23133647 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group CLINVAR Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. 23133647 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 GeneticVariation group 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 		0.100 CausalMutation group 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 		0.100 GeneticVariation group 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