DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. 23918729 2013
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Mutational spectrum of Smith-Lemli-Opitz syndrome. 23042628 2012
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. 23293579 2012
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 22438180 2012
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome. 21777499 2011
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. 18285838 2008
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. 16761297 2006
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? 16906538 2006
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 15464432 2005
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 15286151 2004
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. 11562938 2001
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Mutations in the human DHCR7 gene. 11241839 2001
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299 2000
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR The Smith-Lemli-Opitz syndrome. 10807690 2000
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. 9024557 1997
dbSNP: rs138659167
rs138659167
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 CausalMutation CLINVAR Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 8259166 1994