Sitosterolemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SITOSTEROLEMIA | ABCG5 | Causal | CTD ClinGen ClinVar Disgenet Orphanet | ||
| ABCG8 | Causal | CTD ClinGen ClinVar Disgenet Orphanet | |||
| DYNC2LI1 | Unknown | — | Disgenet | ||
| SITOSTEROLEMIA 1 | ABCG5 | Causal | — | Disgenet GenCC | |
| ABCG8 | Causal | ClinVar Disgenet GWAS catalog HPO | |||
| DYNC2LI1 | Unknown | — | Disgenet | ||
| SITOSTEROLEMIA 2 | ABCG5 | Causal | ClinVar Disgenet HPO | ||
| DYNC2LI1 | Unknown | — | Disgenet |