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: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.810 GeneticVariation UNIPROT Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. 15184297 2004
dbSNP: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.810 GeneticVariation UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022 2002
dbSNP: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.810 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: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.810 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992 2002
dbSNP: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.810 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824 2007
dbSNP: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.810 GeneticVariation UNIPROT The revised Ghent nosology for the Marfan syndrome. 20591885 2010
dbSNP: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		0.810 GeneticVariation UNIPROT Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. 8004112 1994