Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.530 | GermlineCausalMutation | disease | ORPHANET | |||||||
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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 | Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. | 18178469 | 2008 | ||||
|
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 | Biomarker | disease | CTD_human | Heterozygous TGFBR2 mutations in Marfan syndrome. | 15235604 | 2004 | ||||
|
0.530 | Biomarker | disease | CTD_human | Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. | 22772368 | 2012 | ||||
|
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 | Mechanical and pharmacological approaches to investigate the pathogenesis of Marfan syndrome in the abdominal aorta. | 18212506 | 2008 | ||||
|
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 | 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 | The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. | 17657824 | 2007 |