Gene: FBN1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 GeneticVariation disease LHGDN Examination of the possible role of biologically relevant genes around FBN1 in systemic sclerosis in the Choctaw population. 14613297 2003
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 GeneticVariation disease LHGDN Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma). 14730633 2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 GeneticVariation disease BEFREE Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. 9778214 1998
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 GeneticVariation disease BEFREE In this issue of Science Translational Medicine, a report by Loeys et al. on mutations in the fibrillin-1 gene in patients with skin fibrosis (stiff skin) adds a new piece of information on a connective tissue disorder that resembles systemic sclerosis, an autoimmune disease characterized by skin fibrosis and visceral organ involvement. 20375002 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 GeneticVariation disease BEFREE Subsequently, studies of FBN1 single nucleotide polymorphisms (SNPs) demonstrated that certain FBN1 haplotypes were associated with SSc in both Native American and Japanese patients with limited scleroderma. 12384286 2002
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 GeneticVariation disease BEFREE These same FBN1 SNP haplotypes were associated with SSc in the Japanese. 11315929 2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 GeneticVariation disease BEFREE Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Tight-skin mouse autoantibody repertoire: analysis of VH and VK gene usage. 7688852 1993
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Granulated metrial gland cells in the pregnant uterus of mice expressing the collagen mutation tight-skin (Tsk/+). 1617705 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Increased alpha 1(I) procollagen gene expression in tight skin (TSK) mice myocardial fibroblasts is due to a reduced interaction of a negative regulatory sequence with AP-1 transcription factor. 7721853 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils. 9490728 1998
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Hereditary emphysema in the tight-skin mouse. Evaluation of pathogenesis. 6562869 1984
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Urinary bladder function in the tight-skin mouse. 1433576 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Cardiac collagen changes during the development of right ventricular hypertrophy in tight-skin mice with emphysema. 8070538 1994
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Delayed-type hypersensitivity to elastase-soluble lung peptides in the tight-skin (Tsk) mouse. 6604585 1983
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Lung collagen synthesis and deposition in tight-skin mice with genetic emphysema. 1587342 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Mast cells and their degranulation in the Tsk mouse model of scleroderma. 4048170 1985
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease BEFREE The majority of Choctaw American Indians, Japanese, and African Americans with SSc produced IgM and/or IgG autoantibodies to one or more recombinant fibrillin 1 proteins, while <50% of Caucasians with SSc showed seroreactivity. 11083269 2000
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Decreased collagen mRNA and regression of cardiac fibrosis in the ventricular myocardium of the tight skin mouse following thyroid hormone treatment. 1451140 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Hereditary emphysema in the tight-skin (Tsk/+) mouse. 7271067 1981
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Transforming growth factor-beta 1 and collagen gene expression during postnatal skin development and fibrosis in the tight-skin mouse. 7783425 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Lack of skin fibrosis in tight skin (TSK) mice with targeted mutation in the interleukin-4R alpha and transforming growth factor-beta genes. 11168809 2001
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. 24107997 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Tight-skin mouse an experimental model for scleroderma. 7523551 1994
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.300 Biomarker disease MGD Electron microscopic observations of elastic fibres in the lung and aorta of tight-skin and beta-aminopropionitrile-fed mice. 1576433 1992