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 BEFREE Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in <i>FBN1</i> gene, which encodes a key extracellular matrix protein FIBRILLIN-1. 28539832

2018

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker BEFREE Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. 27906200

2018

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE Aortic dilatation in Marfan syndrome: role of arterial stiffness and fibrillin-1 variants. 29210860

2018

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G>A mutation, ISMMSi002-B, for disease modeling. 28925368

2018

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE A novel FBN1 mutation causes autosomal dominant Marfan syndrome. 28944857

2018

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation. 26905825

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation CLINVAR More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype-phenotype correlations difficult. 27437668

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. 27437668

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR Fibrillin 1 (<i>FBN1)</i> mutations are associated with Marfan syndrome and a spectrum of similar phenotypes. 28050602

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation CLINVAR FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. 27437668

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue that affects the cardiovascular, skeletal, ocular, pulmonary, and nervous systems and is usually caused by mutations in the FBN1 gene, which encodes fibrillin-1. 27181042

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR Using targeted semiconductor sequencing, two pathogenic mutations in four MFS patients of the two pedigrees were identified, including a novel frameshift insertion, p.G2120fsX2160, and a reported nonsense mutation, p.Arg529X (rs137854476), in the FBN1 gene. 27175573

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935

2017

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

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. 28468757

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family. 27353645

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype-phenotype correlations difficult. 27437668

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker BEFREE FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker BEFREE Difficulties in diagnosing Marfan syndrome using current FBN1 databases. 25812041

2016

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE In conclusion, we report on a case of early-onset autosomal dominant isolated ectopia lentis caused by FBN1 mutation that has previously been reported only in Marfan syndrome. 25900864

2016

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

2016