rs113001196, FBN1

N. diseases: 5
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
0.700 CausalMutation CLINVAR The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 29357934 2018
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580 2016
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis. 23684891 2013
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 GeneticVariation CLINVAR Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 21907952 2011
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 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
0.700 CausalMutation CLINVAR Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. 11139245 2001
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 GeneticVariation CLINVAR Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. 11139245 2001