Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 Biomarker disease MGD Microenvironmental regulation by fibrillin-1. 22242013 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 Biomarker disease GENOMICS_ENGLAND FBN1 mutations in patients with descending thoracic aortic dissections. 20082464 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 GeneticVariation disease BEFREE In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 12525539 2003
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 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
0.910 Biomarker disease GENOMICS_ENGLAND Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497 1993
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 Biomarker disease GENOMICS_ENGLAND 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
0.910 Biomarker disease CTD_human
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 GeneticVariation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 CausalMutation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.910 GeneticVariation disease ORPHANET
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
0.500 Biomarker disease MGD ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome. 30060141 2018
Entrez Id: 81794
Gene Symbol: ADAMTS10
ADAMTS10
0.500 Biomarker disease CTD_human
Entrez Id: 4053
Gene Symbol: LTBP2
LTBP2
0.300 Biomarker disease CTD_human