FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
0.530 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
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
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
0.530 GeneticVariation disease BEFREE Marfan syndrome type 1 (MFS1) is caused by mutations in the FBN1 gene. 19159394 2009
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
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
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
0.530 Biomarker disease CTD_human Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. 18178469 2008
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
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
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
0.530 Biomarker disease CTD_human Mechanical and pharmacological approaches to investigate the pathogenesis of Marfan syndrome in the abdominal aorta. 18212506 2008
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
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
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
0.530 Biomarker disease CTD_human Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604 2004
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
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
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I
0.530 GermlineCausalMutation disease ORPHANET