Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 GeneticVariation disease BEFREE Recently, stiff skin syndrome (SSS) and a group of syndromes known collectively as the acromelic dysplasias, which typically result in short stature, skin thickening and joint stiffness, have been linked to FBN1 mutations that affect specific domains of the fibrillin-1 protein. 25979247 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 GeneticVariation disease BEFREE We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediates integrin binding. 20375004 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 GermlineCausalMutation disease ORPHANET We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediates integrin binding. 20375004 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 Biomarker disease GENOMICS_ENGLAND FBN1 mutations in patients with descending thoracic aortic dissections. 20082464 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 GeneticVariation disease UNIPROT We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediates integrin binding. 20375004 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 Biomarker disease BEFREE In this respect, it resembles human stiff skin syndrome and the Tight skin mouse, each of which is caused by gene defects affecting fibrillin-1, a major component of tissue microfibrils. 20862248 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 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
0.730 Biomarker disease CTD_human
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 GeneticVariation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.730 CausalMutation disease CLINVAR