Adenine phosphoribosyltransferase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Adenine phosphoribosyltransferase deficiency | 976, C0268120 | APRT | Causal Pathogenic evidence from ClinVar | 1353080, 1746557, 3343350, 3680503, 7915931, 11243733, 15571218, 21635362, 22212387, 22700886, 27604308 | ClinVar |