Annotation Detail
Information
- Associated Genes
- DHCR7
- Associated Variants
-
DHCR7 MUTATION
DHCR7 MUTATION - Associated Disease
- Smith-Lemli-Opitz syndrome
- Source Database
- DisGeNET
- Description
- For demonstrative purposes, we analyzed the causative gene for the disorder Smith-Lemli-Opitz Syndrome (SLOS), the 7-dehydrocholesterol reductase (DHCR7) gene and determined both the carrier frequency for DHCR7 mutations, and predicted an expected incidence of the disorder.
- Pubmed
- 24813812
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- 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