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: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. 22539340 2012
dbSNP: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year. 21135753 2011
dbSNP: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785 2009
dbSNP: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 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: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079 2006
dbSNP: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647 2006
dbSNP: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319 1999
dbSNP: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299 1995
dbSNP: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735 1987
dbSNP: rs1566935517
rs1566935517
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease:
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422 1973