Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113544411
rs113544411
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009
dbSNP: rs113544411
rs113544411
FBN1
CUI: C0024796
Disease: Marfan Syndrome
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: rs113544411
rs113544411
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs113544411
rs113544411
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006
dbSNP: rs113544411
rs113544411
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005
dbSNP: rs113544411
rs113544411
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003
dbSNP: rs113544411
rs113544411
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.800 CausalMutation CLINVAR Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation. 10756346

2000