DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Smith-Lemli-Opitz Syndrome ×

Gene: DHCR7 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80338859

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.850

CausalMutation

CLINVAR

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

27513191

2017

dbSNP:

rs751604696

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

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

27513191

2017

dbSNP:

rs143312232

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

28166604

2017

dbSNP:

rs142808899

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.710

GeneticVariation

CLINVAR

Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.

28503313

2017

dbSNP:

rs142808899

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.710

CausalMutation

CLINVAR

Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.

28503313

2017

dbSNP:

rs104886039

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.700

CausalMutation

CLINVAR

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

28349652

2017

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

26969503

2016

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

27401223

2016

dbSNP:

rs398123607

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

27401223

2016

dbSNP:

rs138659167

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.700

CausalMutation

CLINVAR

Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

24824134

2015

dbSNP:

rs751604696

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

24500076

2014

dbSNP:

rs751604696

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

24500076

2014

dbSNP:

rs535561852

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

24500076

2014

dbSNP:

rs121909765

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

24500076

2014

dbSNP:

rs760428437

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.700

GeneticVariation

CLINVAR

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

24500076

2014

dbSNP:

rs201270451

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.700

GeneticVariation

CLINVAR

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

24500076

2014

dbSNP:

rs104886033

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.700

GeneticVariation

CLINVAR

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

24500076

2014

dbSNP:

rs80338857

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

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

dbSNP:

rs1046560765

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

23918729

2013

dbSNP:

rs766495775

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.700

GeneticVariation

CLINVAR

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

23918729

2013

dbSNP:

rs138659167

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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

dbSNP:

rs138659167

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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

dbSNP:

rs138659167

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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

dbSNP:

rs104886039

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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

dbSNP:

rs80338853

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.840

CausalMutation

CLINVAR

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

22211794

2012