Annotation Detail
Information
- Associated Genes
- DHCR7
- Associated Variants
-
DHCR7 MUTATION
DHCR7 MUTATION
DHCR7 p.His119Leu (p.H119L) ( ENST00000683714.1, ENST00000682708.1, ENST00000685320.1, ENST00000355527.8, ENST00000683287.1, ENST00000527316.6, ENST00000407721.6, ENST00000682880.1, ENST00000526780.6 )
DHCR7 p.His119Leu (p.H119L) ( ENST00000355527.8, ENST00000407721.6, ENST00000526780.6, ENST00000527316.6, ENST00000682708.1, ENST00000682880.1, ENST00000683287.1, ENST00000683714.1, ENST00000685320.1 ) - Associated Disease
- Smith-Lemli-Opitz syndrome
- Source Database
- DisGeNET
- Description
- Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
- Pubmed
- 11427181
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.610363549988277
- Year of publication
- 2001
Drugs