| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). (Orphanet Rare Disease Ontology, Orphanet_65287) |
| External Link | https://www.disgenet.org/browser/0/1/0/C1291512 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the disease Beta-Ureidopropionase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| UPB1 | ureidopropionase, beta |
