rs111984349, FBN1

N. diseases: 9
Disease: Marfan Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 CausalMutation CLINVAR Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. 24161884 2014
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 CausalMutation CLINVAR Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 21542060 2011
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
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
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824 2007
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
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
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 CausalMutation CLINVAR Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. 10533071 1999
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 CausalMutation CLINVAR Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. 10464652 1999
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation UNIPROT
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.800 GeneticVariation CLINVAR