Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis. 29698737

2018
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells. 27097157

2016
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. 19365639

2010
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. 17994283

2007
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. 16814115

2006
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. 16446309

2006
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. 15896653

2005
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human [Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases]. 12818773

2003
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism. 14659996

2003
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. 12906934

2003
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		0.300 Biomarker CTD_human Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. 11254748

2001