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 		1.000 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 		1.000 Biomarker disease MGD Glycosaminoglycan content in skin of the tight-skin mouse. 6847727 1983
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD The tight-skin mouse: an animal model of inherited emphysema. 6971670 1980
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD Hereditary emphysema in the tight-skin (Tsk/+) mouse. 7271067 1981
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD The ultrastructure of collagen in the dermis of tight-skin (Tsk) mutant mice. 7359004 1980
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease BEFREE The MFS is caused by mutations in FBN1, while CCA has been genetically linked to FBN2 (refs 2, 5, 6). 7493032 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD Tight-skin mouse an experimental model for scleroderma. 7523551 1994
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease UNIPROT Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease CLINGEN Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease BEFREE Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease BEFREE Mutations in the FBN1 gene encoding the microfibrillar glycoprotein fibrillin cause Marfan syndrome, a relatively common autosomal dominant connective tissue disease. 7622614 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease BEFREE Characterization of FBN1 mutations in individuals at the most severe end of the Marfan syndrome spectrum should provide greater understanding of the multiple domains and regions of fibrillin. 7633409 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD Tight-skin mouse autoantibody repertoire: analysis of VH and VK gene usage. 7688852 1993
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease BEFREE Since FBN1 is the gene responsible for Marfan syndrome, the information presented here will be useful in identifying new mutations and in understanding the function of fibrillin in the pathogenesis of the disease. 7691719 1993
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 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 		1.000 GeneticVariation disease UNIPROT This mutation identifies a putative site for profibrillin to fibrillin processing, and is associated with isolated skeletal features of the Marfan syndrome, indicating that the FBN1 gene is one of the genes that determines height in the general population. 7738200 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease BEFREE A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. 7738200 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease CLINGEN Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. 7744963 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease BEFREE It is conceivable that post-translational over-modification might be important for modulating the phenotype of FBN1 mutations in Marfan syndrome. 7760331 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease GENOMICS_ENGLAND A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease UNIPROT A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome. 7778680 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 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