FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Scleroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.050 GeneticVariation disease BEFREE Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004 2010
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.050 AlteredExpression disease BEFREE Induction of apoptosis and fibrillin 1 expression in human dermal endothelial cells by scleroderma sera containing anti-endothelial cell antibodies. 16802364 2006
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.050 Biomarker disease BEFREE Autoantibodies to fibrillin-1 activate normal human fibroblasts in culture through the TGF-beta pathway to recapitulate the "scleroderma phenotype". 16177099 2005
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.050 GeneticVariation disease BEFREE Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. 12384286 2002
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.050 GeneticVariation disease BEFREE Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a Native American population. 9778214 1998