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 CausalMutation CLINVAR A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. 27513191

2017

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. 28503313

2017

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. 28503313

2017

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. 28166604

2017

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Normal IQ is possible in Smith-Lemli-Opitz syndrome. 28349652

2017

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review. 27401223

2016

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. 26969503

2016

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome. 24824134

2015

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. 24500076

2014

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. 24500076

2014

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 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

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome. 23918729

2013

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 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

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 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

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 22382802

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Mutational spectrum of Smith-Lemli-Opitz syndrome. 23042628

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. 22211794

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype. 22438180

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Smith-Lemli-Opitz syndrome among Arabs. 21696385

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey. 22211794

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 CausalMutation CLINVAR Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. 22226660

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Mutational spectrum of Smith-Lemli-Opitz syndrome. 23042628

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Smith-Lemli-Opitz syndrome among Arabs. 21696385

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. 23293579

2012

Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1.000 GeneticVariation CLINVAR Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. 22226660

2012