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 GermlineCausalMutation disease ORPHANET
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422 1973
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422 1973
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine. 952872 1976
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD Tight-skin, a new mutation of the mouse causing excessive growth of connective tissue and skeleton. 176891 1976
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 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 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 Hereditary emphysema in the tight-skin mouse. Evaluation of pathogenesis. 6562869 1984
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD Mast cells and their degranulation in the Tsk mouse model of scleroderma. 4048170 1985
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD Increased collagen biosynthesis and increased expression of type I and type III procollagen genes in tight skin (TSK) mouse fibroblasts. 2416757 1986
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR The solution structure of human epidermal growth factor. 3495735 1987
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease CLINVAR The solution structure of human epidermal growth factor. 3495735 1987
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease CLINGEN Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. 1852208 1991
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 CausalMutation disease CLINVAR The funding crisis in biomedical research, Part I--Addressing the issue. 2005308 1991
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 GeneticVariation disease UNIPROT Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. 1852208 1991
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD Electron microscopic observations of elastic fibres in the lung and aorta of tight-skin and beta-aminopropionitrile-fed mice. 1576433 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease GENOMICS_ENGLAND Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome. 1301946 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker 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
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 Biomarker disease MGD Urinary bladder function in the tight-skin mouse. 1433576 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		1.000 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 		1.000 GeneticVariation disease UNIPROT Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. 1569206 1992