Annotation Detail
Information
- Associated Genes
- DHCR7
- Associated Variants
-
DHCR7 MUTATION
DHCR7 MUTATION - Associated Disease
- Smith-Lemli-Opitz syndrome
- Source Database
- DisGeNET
- Description
- The Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive condition that is characterized by a mutation in the DHCR7 encoding the 7-dehydrocholesterol-Δ7 reductase, the enzyme that catalyzes the last step in cholesterol biosynthesis.
- Pubmed
- 25117108
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.610363549988277
Drugs