Bifunctional enzyme deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Bifunctional enzyme deficiency | 300 | HSD17B4 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| EHHADH | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |