Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GermlineCausalMutation ORPHANET

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker 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
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation BEFREE Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. 1301946

1993

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation UNIPROT Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. 1301946

1993

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation UNIPROT Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome. 1301946

1993

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker MGD Urinary bladder function in the tight-skin mouse. 1433576

1992

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker 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
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. 1569206

1992

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation UNIPROT Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. 1569206

1992

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker 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
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker MGD Lung collagen synthesis and deposition in tight-skin mice with genetic emphysema. 1587342

1992

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation 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
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker 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
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. 1631074

1992

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation UNIPROT Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. 1852208

1991

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker 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
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker MGD Mast cells and their degranulation in the Tsk mouse model of scleroderma. 4048170

1985

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 GeneticVariation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker MGD Hereditary emphysema in the tight-skin mouse. Evaluation of pathogenesis. 6562869

1984

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker MGD Delayed-type hypersensitivity to elastase-soluble lung peptides in the tight-skin (Tsk) mouse. 6604585

1983

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker MGD Glycosaminoglycan content in skin of the tight-skin mouse. 6847727

1983

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker MGD The tight-skin mouse: an animal model of inherited emphysema. 6971670

1980

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
1.000 Biomarker MGD Hereditary emphysema in the tight-skin (Tsk/+) mouse. 7271067

1981