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