| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. (Orphanet Rare Disease Ontology, Orphanet_2843) |
| Similar Terms | |
| Downloads & Tools |
1 genes involed in the disease Pentosuria from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| DCXR | dicarbonyl/L-xylulose reductase | 5.0 |
