FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Connective Tissue Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 CausalMutation group CLINVAR
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Mutations in the FBN1 gene, encoding the extracellular matrix protein fibrillin-1, result in the dominant connective tissue disease Marfan syndrome. 19573590 2009
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Marfan syndrome (MFS) is known as an autosomal-dominant connective tissue disorder (MIM 154,700), involving primarily the skeletal, ocular and cardiovascular systems, and caused by mutations in the gene for fibrillin1 (FBN1). 17568394 2007
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Ectopia lentis (EL), a dominantly inherited connective tissue disorder, has been genetically linked to the fibrillin gene on chromosome 15 (FBN1) in earlier studies. 8188302 1994
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. 19879983 2010
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE FBN1 gene mutations lead to MFS and related connective tissue disorders. 31163209 2019
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. 9401003 1997
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome. 26875674 2016
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Understanding how structural changes induced by fibrillin-1 mutation impact the architecture of fibrillin microfibrils, which then translates into an altered activation state of targeted growth factors, represents a huge challenge in elucidating the genotype-phenotype correlations in connective tissue disorders such as Marfan syndrome. 27956365 2017
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Our findings expand the number of large FBN1 deletions, and emphasize the importance of screening for large genomic deletions in connective tissue disorders featuring aortopathies, especially for those with classic Marfan phenotype. 21936929 2011
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. 19161152 2009
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Mutations in the human fibrillin 1 gene (FBN1) cause the Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. 11933199 2002
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Marfan syndrome (MFS) is one of the most common heritable connective tissue disorders and is caused by mutations in a gene coding for fibrillin-1. 8750301 1995
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin-1 (FBN1) mutations and aortic manifestations. 31830381 2020
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Mutations in the fibrillin-1 (FBN1) gene cause the Marfan syndrome (MFS) and related connective tissue disorders. 9887276 1999
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE A hydrogel coated angioplasty balloon might constitute a possible aortic vector to locally deliver an antisense Mg-dependent hammerhead ribozyme capable to control specifically the genetic alteration of fibrillin 1 responsible for the connective tissue disorder of MFS. 11300623 2001
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE There is a remarkable degree of variability both within and between families with Marfan syndrome, and FBN1 mutations have also been found in a range of other related connective tissue disorders collectively termed type-1 fibrillinopathies. 10756346 2000
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Marfan syndrome (MFS) is an inherited connective tissue disorder mainly caused by the fibrillin-1 mutation. 23428920 2013
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. 30048161 2018
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1. 20351703 2010
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Mutations in the fibrillin-1 (FBN1) gene have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. 18471089 2008
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 Biomarker group BEFREE Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. 26684006 2015
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. 12402346 2002
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Mutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. 10090884 1999
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.200 GeneticVariation group BEFREE Marfan syndrome (MS) is a systemic connective tissue disorder caused by mutation in the extracellular matrix protein fibrillin 1. 30685343 2019