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 _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

10602371

1999

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: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

10602371

1999

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: carrier frequency and spectrum of DHCR7 mutations in Canada.

12070263

2002

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 spectrum of DHCR7 mutations in Canada.

12070263

2002

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.

21777499

2011

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

GeneticVariation

CLINVAR

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

12914579

2003

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

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

CausalMutation

CLINVAR

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.

16497572

2007

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

1.000

CausalMutation

CLINVAR

Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome.

15877207

2005

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

1.000

CausalMutation

CLINVAR

Recent insights into the Smith-Lemli-Opitz syndrome.

16207203

2005

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

1.000

CausalMutation

CLINVAR

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

16044199

2005

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

1.000

GeneticVariation

CLINVAR

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

16044199

2005

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

1.000

CausalMutation

CLINVAR

Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.

16181459

2005

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

1.000

GeneticVariation

CLINVAR

Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.

16181459

2005

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

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

Our results strongly suggest that defects in the DHCR7 gene cause the SLOS.

9653161

1998

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

1.000

CausalMutation

CLINVAR

Our results strongly suggest that defects in the DHCR7 gene cause the SLOS.

9653161

1998

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

CUI:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

1.000

CausalMutation

CLINVAR

Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase.

9683613

1998

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

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

No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

22391996

2012