Annotation Detail

Information
Associated Genes
DHCR7
Associated Variants
DHCR7 MUTATION
DHCR7 MUTATION
Associated Disease
7-Dehydrocholesterol Reductase Deficiency
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
ORPHANET
DisGENET score for the Gene Disease association
0.12
Drugs