Source: INFERRED

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 GeneticVariation CLINVAR 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. 15670717

2005
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. 15670717

2005
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR SLOS is caused by the mutations in the gene for 3beta-hydroxysterol Delta(7) reductase (DHCR7; EC 1.3.1.21), which maps to chromosome 11q12-13. 17994283

2007
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of SLOS, and provides an alternative to specialized biochemical tests for elevated 7DHC in amniotic fluid or CVS. 17441222

2007
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of SLOS, and provides an alternative to specialized biochemical tests for elevated 7DHC in amniotic fluid or CVS. 17441222

2007
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. 20052364

2010
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis. 20052364

2010
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. 16392899

2005
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly. 15013448

2004
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. 27513191

2017
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts. 17237122

2007
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts. 17237122

2007
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010. 20694756

2010
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010. 20694756

2010
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome. 18076100

2008
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR Adrenal function in Smith-Lemli-Opitz syndrome. 21990131

2011
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Adrenal function in Smith-Lemli-Opitz syndrome. 21990131

2011
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. 11745994

2001
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. 17965227

2008
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 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
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. 20014133

2010
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 CausalMutation CLINVAR Better understanding of the 7DHCR gene regulation factors and of the compensatory mechanism of foeto-maternal cholesterol transfer are necessary to explain the wide clinical spectrum of the SLO syndrome. 12818773

2003
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Better understanding of the 7DHCR gene regulation factors and of the compensatory mechanism of foeto-maternal cholesterol transfer are necessary to explain the wide clinical spectrum of the SLO syndrome. 12818773

2003
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. 11111101

2000
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		1.000 GeneticVariation CLINVAR Biochemical variants of Smith-Lemli-Opitz syndrome. 10405455

1999