| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. | 24824134 | 2015 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. | 23918729 | 2013 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | 22975760 | 2013 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | GeneticVariation | CLINVAR | Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. | 22929031 | 2013 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations. | 22929031 | 2013 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. | 23918729 | 2013 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Mutational spectrum of Smith-Lemli-Opitz syndrome. | 23042628 | 2012 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. | 23293579 | 2012 | |||||
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 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. | 23293579 | 2012 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. | 22438180 | 2012 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutational spectrum of Smith-Lemli-Opitz syndrome. | 23042628 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. | 23293579 | 2012 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutational spectrum of Smith-Lemli-Opitz syndrome. | 23042628 | 2012 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. | 22382802 | 2012 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Smith-Lemli-Opitz syndrome. | 21777499 | 2011 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Smith-Lemli-Opitz syndrome. | 21777499 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Smith-Lemli-Opitz syndrome. | 21777499 | 2011 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | GeneticVariation | CLINVAR | Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. | 20104611 | 2010 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. | 20635399 | 2010 | |||||
Smith-Lemli-Opitz Syndrome
|
0.700 | CausalMutation | CLINVAR | Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism. | 20104611 | 2010 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. | 18285838 | 2008 | |||||
Multiple congenital anomalies
|
0.700 | CausalMutation | CLINVAR | Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. | 18285838 | 2008 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. | 16761297 | 2006 |