Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.530 | Biomarker | disease | CTD_human | Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. | 22772368 | 2012 | ||||
|
0.530 | Biomarker | disease | CTD_human | Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. | 21909107 | 2011 | ||||
|
0.530 | GeneticVariation | disease | BEFREE | Marfan syndrome type 1 (MFS1) is caused by mutations in the FBN1 gene. | 19159394 | 2009 | ||||
|
0.530 | Biomarker | disease | CTD_human | Rationale and design of a trial evaluating the effects of losartan vs. nebivolol vs. the association of both on the progression of aortic root dilation in Marfan syndrome with FBN1 gene mutations. | 19430350 | 2009 | ||||
|
0.530 | Biomarker | disease | CTD_human | Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. | 18178469 | 2008 | ||||
|
0.530 | GeneticVariation | disease | BEFREE | Marfan syndrome type I (MFS1, MIM #154700) is caused by mutations in FBN1 encoding fibrillin-1, which is a major microfibrillar protein of elastic system fibers. | 18049824 | 2008 | ||||
|
0.530 | Biomarker | disease | CTD_human | Mechanical and pharmacological approaches to investigate the pathogenesis of Marfan syndrome in the abdominal aorta. | 18212506 | 2008 | ||||
|
0.530 | Biomarker | disease | CTD_human | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 | ||||
|
0.530 | Biomarker | disease | CTD_human | Heterozygous TGFBR2 mutations in Marfan syndrome. | 15235604 | 2004 | ||||
|
0.530 | GeneticVariation | disease | BEFREE | Members of an International Consortium for Linkage Analysis of the Marfan Syndrome (MFS1) have pooled data for joint analysis in an attempt to determine the precise location of the MFS1 gene and the order of 10 DNA markers on 15q. | 1613769 | 1992 | ||||
|
0.530 | GermlineCausalMutation | disease | ORPHANET |