Gene: FBN1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience. 31730815 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience. 31730815 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis. 28098115 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 29357934 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 27906200 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Diagnostic value of exome and whole genome sequencing in craniosynostosis. 27884935 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. 28941062 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing. 28855619 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Our MFS-hiPSC-derived smooth muscle cells (SMCs) recapitulated the pathology seen in Marfan aortas, including defects in fibrillin-1 accumulation, extracellular matrix degradation, transforming growth factor-β (TGF-β) signaling, contraction and apoptosis; abnormalities were corrected by CRISPR-based editing of the FBN1 mutation. 27893734 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. 26621581 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. 27146836 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients. 27724990 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668 2016