DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 14; N. variants: 93
Disease: Smith-Lemli-Opitz Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 GeneticVariation UNIPROT The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally. 25637936 2015
dbSNP: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 GeneticVariation UNIPROT Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). 15954111 2005
dbSNP: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 GeneticVariation UNIPROT Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. 12949967 2003
dbSNP: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 GeneticVariation UNIPROT Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. 11427181 2001
dbSNP: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 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: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 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: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 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: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 GeneticVariation UNIPROT Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. 9653161 1998
dbSNP: rs104886038
rs104886038
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
CUI: C0175694
Disease:
Smith-Lemli-Opitz Syndrome 		0.700 GeneticVariation UNIPROT Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. 9683613 1998