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: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.500 CausalMutation disease CLINVAR
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.500 GeneticVariation disease CLINVAR
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2 		0.410 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2 		0.410 CausalMutation disease CLINVAR
Entrez Id: 875
Gene Symbol: CBS
CBS 		0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		0.200 GeneticVariation disease CLINVAR
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.200 CausalMutation disease CLINVAR
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 GeneticVariation disease CLINVAR
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 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 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 GeneticVariation disease UNIPROT 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 GeneticVariation disease BEFREE Here we describe the identification of three new missense mutations in the FBN1 gene in patients with the Marfan syndrome. 1301946 1992
Entrez Id: 1950
Gene Symbol: EGF
EGF 		0.100 GeneticVariation disease BEFREE Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. 1301946 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 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: 1634
Gene Symbol: DCN
DCN 		0.040 Biomarker disease BEFREE We have studied the synthesis of fibrillin and decorin in cultured fibroblasts of a further sporadic patient with neonatally lethal Marfan syndrome. 1479602 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
Entrez Id: 1950
Gene Symbol: EGF
EGF 		0.100 GeneticVariation disease BEFREE A cysteine to serine substitution at codon 1409 (C1409S) was identified in an epidermal growth factor (EGF)-like motif from one fibrillin allele which segregates with the disease phenotype through three generations of a family affected with the Marfan syndrome. 1569206 1992
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 MGD Lung collagen synthesis and deposition in tight-skin mice with genetic emphysema. 1587342 1992
Entrez Id: 1634
Gene Symbol: DCN
DCN 		0.040 AlteredExpression disease BEFREE These tissue- and cell type-specific variations in the expression of DCN may help to explain the complex phenotypic variation typical of individuals with Marfan syndrome. 1611907 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