Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. 23918729

2013
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 22438180

2012
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutational spectrum of Smith-Lemli-Opitz syndrome. 23042628

2012
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. 23293579

2012
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome. 21777499

2011
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. 18285838

2008
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? 16906538

2006
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. 16761297

2006
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. 15464432

2005
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. 15286151

2004
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype. 11562938

2001
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutations in the human DHCR7 gene. 11241839

2001
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. 10677299

2000
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR The Smith-Lemli-Opitz syndrome. 10807690

2000
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. 9024557

1997
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. 8259166

1994