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 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 CausalMutation disease CLINVAR Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. 1631074 1992
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.100 Biomarker disease BEFREE Immunohistochemical studies have implicated fibrillin, a major component of elastin-associated microfibrils, in MFS aetiology. 1852206 1991
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 GeneticVariation disease UNIPROT Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. 1852208 1991
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.060 Biomarker disease BEFREE The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. 1969488 1990
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.010 Biomarker disease BEFREE The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. 1969488 1990
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.010 Biomarker disease BEFREE The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. 1969488 1990
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.060 GeneticVariation disease BEFREE A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. 1978725 1990
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: 2006
Gene Symbol: ELN
ELN 		0.100 Biomarker disease BEFREE Although the underlying biochemical and molecular defect(s) of this pleiotropic disease is currently unknown, we have consistently observed apparent diminished content of elastin-associated microfibrillar fibers accumulating in skin, or produced by cultured fibroblasts, from patients with the Marfan syndrome and have documented the cosegregation of these immunofluorescent abnormalities of microfibrillar fibers with the Marfan syndrome phenotype in family studies. 2180285 1990
Entrez Id: 1634
Gene Symbol: DCN
DCN 		0.040 GeneticVariation disease BEFREE Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome. 2211661 1990
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: 1278
Gene Symbol: COL1A2
COL1A2 		0.060 GeneticVariation disease BEFREE Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. 2879657 1986
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.060 Biomarker disease BEFREE The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. 2883320 1987
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		0.030 GeneticVariation disease BEFREE Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family. 2883320 1987
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.060 GeneticVariation disease BEFREE A 38 base pair insertion in the pro alpha 2(I) collagen gene of a patient with Marfan syndrome. 2985635 1985
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.060 GeneticVariation disease BEFREE Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome. 3011649 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 MGD Mast cells and their degranulation in the Tsk mouse model of scleroderma. 4048170 1985
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 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 Delayed-type hypersensitivity to elastase-soluble lung peptides in the tight-skin (Tsk) mouse. 6604585 1983