DisGeNET - a database of gene-disease associations

Smith-Lemli-Opitz Syndrome, C0175694

Variant: rs138659167 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

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

24824134

2015

dbSNP:

rs138659167

DHCR7

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

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:

rs138659167

DHCR7

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

0.700

CausalMutation

CLINVAR

Mutational spectrum of Smith-Lemli-Opitz syndrome.

23042628

2012

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

23293579

2012

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Mutational spectrum of Smith-Lemli-Opitz syndrome.

23042628

2012

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

22382802

2012

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Smith-Lemli-Opitz syndrome.

21777499

2011

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

20635399

2010

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

20104611

2010

dbSNP:

rs138659167

DHCR7

0.700

GeneticVariation

CLINVAR

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

20104611

2010

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

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

16983147

2006

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.

15952211

2005

dbSNP:

rs138659167

DHCR7

0.700

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:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

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

11427181

2001

dbSNP:

rs138659167

DHCR7

0.700

GeneticVariation

CLINVAR

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

11427181

2001

dbSNP:

rs138659167

DHCR7

0.700

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:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

11161831

2001

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

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

11427181

2001

dbSNP:

rs138659167

DHCR7

0.700

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:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

10814720

2000

dbSNP:

rs138659167

DHCR7

0.700

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:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

10814720

2000

dbSNP:

rs138659167

DHCR7

0.700

CausalMutation

CLINVAR

Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.

10710236

2000