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 GeneticVariation 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 Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. 11175294

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis. 11251996

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR FBN1 exon 2 splicing error in a patient with Marfan syndrome. 11391655

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. 11453977

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation. 11453977

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. 11524736

2001
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
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Diagnostic criteria for MFS were fulfilled in 94 patients, 62 (66%) of whom had an FBN1 mutation. 11700157

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome. 11748851

2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome. 11780406

2001
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 GeneticVariation 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 Effects of the N2144S mutation on backbone dynamics of a TB-cbEGF domain pair from human fibrillin-1. 11829507

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Accounting for human polymorphisms predicted to affect protein function. 11875032

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Accounting for human polymorphisms predicted to affect protein function. 11875032

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR In three MFS patients of unknown FBN1 genotype, we detected two mutations and eight polymorphisms. 11933199

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. 12068374

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. 12068374

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 GeneticVariation CLINVAR Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. 12161601

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. 12161601

2002
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 GeneticVariation 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 GeneticVariation CLINVAR In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. 12402346

2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		1.000 CausalMutation CLINVAR In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. 12402346

2002