Sitosterolemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Sitosterolemia | 2882, C0342907 | ABCG5 | Causal Pathogenic evidence from ClinVar | 11099417, 11138003, 11452359, 11668628, 15054092, 16741293, 17228349, 17976197, 19111681, 20521169, 20719861, 21729603, 24166850, 24423340, 25665839, 26813946, 27291889, 28521186, 29353225, 29886606 | ClinVar |
| ABCG8 | Causal Pathogenic evidence from ClinVar | 11099417, 11452359, 15054092, 25798860, 27291889, 28739549 | ClinVar |