DisGeNET - a database of gene-disease associations

DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 14; N. variants: 93

Disease: Smith-Lemli-Opitz Syndrome ×

Variant: rs751604696 ×

Source: CURATED ×

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:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

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

27513191

2017

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.

25637936

2015

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

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

24500076

2014

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

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

24500076

2014

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.

16983147

2006

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

15464432

2005

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

15464432

2005

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

15954111

2005

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

15521979

2004

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

15521979

2004

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

12949967

2003

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

[Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].

12818773

2003

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

12270273

2002

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

12270273

2002

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

11175299

2001

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

11427181

2001

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

10995508

2000

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

10677299

2000

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

10677299

2000

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

10677299

2000

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.

10896306

2000

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

9683613

1998

dbSNP:

rs751604696

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

UNIPROT

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

9653161

1998