Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker MGD We provide the first images of brain sterol localization in a mouse model for SLOS (Dhcr7(-/-)). 20670678

2010
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker MGD Targeted disruption of the murine 3beta-hydroxysterol-Delta7-reductase gene (Dhcr7), an animal model of Smith-Lemli-Opitz syndrome, leads to loss of cholesterol synthesis and neonatal death that can be partially rescued by transgenic replacement of DHCR7 expression in brain during embryogenesis. 17408495

2007
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker MGD To circumvent this problem, we produced a hypomorphic SLOS mouse model by introducing a mutation corresponding to DHCR7(T93M). 16446309

2006
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker MGD As in human patients, the RSH/SLOS mouse has a marked reduction of serum and tissue cholesterol levels and a marked increase of serum and tissue 7-dehydrocholesterol levels. 11230174

2001
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 Biomarker MGD 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. 11560960

2001