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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Although Marfan syndrome (MFS) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the presence of a number of clinical, radiological, and other findings. 17663468

2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities. 21895641

2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. 19720936

2009
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. 19839986

2009
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome. 16476890

2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. 19012347

2008
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. 11139245

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. 12446365

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. 25652356

2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. 27175573

2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR The mutation detection rate in this study was 42% overall, but was only 12% in individuals not fulfilling the diagnostic criteria for MFS, suggesting that clinical overdiagnosis is one reason for the low detection rate observed for FBN1 mutation analysis. 12203992

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 10425041

1999
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Photonic logic by linear unidirectional interference. 19293848

2009
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Ectopia lentis as the presenting and primary feature in Marfan syndrome. 21932315

2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580

2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR We recommend that echocardiogram, ocular examination and FBN1 molecular testing be considered for any patients with possible MFS even in the absence of skeletal features, including Hispanic patients. 19941982

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. 21135753

2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Setting up CSGE analysis for the FBN1 gene and testing the method first by screening coded samples from 17 MFS patients with previously detected FBN1 mutations. 11826022

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 22539340

2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Diagnostic criteria for MFS were fulfilled in 94 patients, 62 (66%) of whom had an FBN1 mutation. 11700157

2001