Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.450 Biomarker disease BEFREE CYP27A1 is the known causative gene of cerebrotendinous xanthomatosis, a disorder which is sometimes accompanied by early onset atherosclerosis. 24080357 2013
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.450 Biomarker disease CTD_human Patients with inherited "cerebrotendinous xanthomatosis" lack sterol 27-hydroxylase (CYP27A1) and develop severe premature atherosclerosis despite normal serum cholesterol concentrations. 19801147 2010
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.450 Biomarker disease BEFREE Patients with inherited "cerebrotendinous xanthomatosis" lack sterol 27-hydroxylase (CYP27A1) and develop severe premature atherosclerosis despite normal serum cholesterol concentrations. 19801147 2010
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.450 Biomarker disease LHGDN In conclusion, stimulation of CYP27A1 by PPARgamma may represent a key previously unrecognized mechanism by which PPARgamma protects against atherosclerosis. 15533057 2005
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.450 Biomarker disease CTD_human Genetic heterogeneity resulting in differences in sterol 27-hydroxylase activity between individuals may affect their ability to deal with accumulated cholesterol in the arterial intima, and hence their relative degree of predisposition to atherosclerosis. 11166758 2001
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.450 GeneticVariation disease BEFREE Genetic heterogeneity resulting in differences in sterol 27-hydroxylase activity between individuals may affect their ability to deal with accumulated cholesterol in the arterial intima, and hence their relative degree of predisposition to atherosclerosis. 11166758 2001
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.450 GeneticVariation disease BEFREE A further impetus for exploring the normal biologic roles that are served by expression of the CYP27A1 gene is the knowledge that mutations in humans are associated with accelerated atherosclerosis and with severe neurologic impairment. 11111083 2000
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.450 Biomarker disease HPO