Ribose 5-phosphate isomerase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Ribose 5-Phosphate Isomerase Deficiency | C1291609 | RPIA | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 14988808, 20499043, 28801340, 30088433 | - |
| Ribose-5-P isomerase deficiency | 440706 | RPIA | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |