Smith-lemli-opitz syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| SMITH-LEMLI-OPITZ SYNDROME | CLCN1 | Causal | — | Disgenet | ||
| SMITH-LEMLI-OPITZ SYNDROME | DHCR7 | Causal | CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO, Orphanet | |||
| SMITH-LEMLI-OPITZ SYNDROME | TSHR | Causal | — | Disgenet | ||
| SMITH-LEMLI-OPITZ SYNDROME | NADSYN1 | Unknown | — | Disgenet |