FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Marfan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. 7738200 1995
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT A new missense mutation of fibrillin in a patient with Marfan syndrome. 8071963 1994
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. 9254848 1997
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. 7870075 1994
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 21542060 2011
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795 2004
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917 2004
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. 10441597 1999
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892 2007
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449 2012
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668 2016
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497 1993
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157 2001
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Guidelines for the diagnosis and management of Marfan syndrome. 17188935 2007
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. 8909500 1996
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 16220557 2005
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 10425041 1999
dbSNP: rs140603
rs140603
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.800 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785 2009