DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Smith-Lemli-Opitz Syndrome ×

Variant: rs80338856 ×

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:

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:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome.

18076100

2008

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

15670717

2005

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Recent insights into the Smith-Lemli-Opitz syndrome.

16207203

2005

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

16044199

2005

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

15776424

2005

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

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

15954111

2005

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

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

15954111

2005

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.

12070263

2002

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.

12070263

2002

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

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

11427181

2001

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

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

11175299

2001

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

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

10995508

2000

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

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

10995508

2000

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

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:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

CausalMutation

CLINVAR

Biochemical variants of Smith-Lemli-Opitz syndrome.

10405455

1999

dbSNP:

rs80338856

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

0.800

GeneticVariation

CLINVAR

Biochemical variants of Smith-Lemli-Opitz syndrome.

10405455

1999