Alpha-methylacyl-coa racemase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Alpha-Methylacyl-CoA Racemase Deficiency | C3280428 | AMACR | Causal Pathogenic evidence from ClinVar | 10655068, 12512044, 15249642, 18032455, 18577977, 20821052, 21576695, 27604308 | ClinVar |
| C1QTNF3-AMACR | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 10655068, 12512044, 15249642, 18032455, 20821052, 21576695 | - |