FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084 2003
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 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: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. 7738200 1995
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 10425041 1999
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824 2007
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.820 GeneticVariation CLINVAR
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Guidelines for the diagnosis and management of Marfan syndrome. 17188935 2007
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449 2012
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation BEFREE We have also investigated the effect of defective calcium binding to cbEGF32 on fibrillin-1 produced by N2144S MFS fibroblasts. 9887276 1999
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT A new missense mutation of fibrillin in a patient with Marfan syndrome. 8071963 1994
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 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: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824 2007
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 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: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992 2002
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. 7870075 1994
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785 2009
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 16220557 2005
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. 8504310 1993
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		C 0.820 CausalMutation CLINVAR An MFS-causing mutation, N2144S, which removes a calcium ligand in cbEGF32, does not detectably affect fibrillin-1 biosynthesis, rate of secretion, processing, or deposition of reducible fibrillin-1 into the ECM. 11829507 2002
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. 7951214 1994
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. 8909500 1996
dbSNP: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 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: rs137854461
rs137854461
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.820 GeneticVariation UNIPROT Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917 2004