Muscle amp deaminase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Muscle AMP deaminase deficiency | C0268123 | AMPD1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |
| AMPD3 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 8004104, 11139257 | - | ||
| MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY | C3714933 | AMPD1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11102975, 19258857, 27604308 | - |