| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that manifests by hypoglycaemia, progressive neurological deterioration, severe liver failure, Fanconi syndrome and developmental delay. (Orphanet Rare Disease Ontology, Orphanet_2880) |
| External Link | https://www.disgenet.org/browser/0/1/0/C0268194 |
| Similar Terms | |
| Downloads & Tools |
2 genes associated with the disease Phosphoenolpyruvate Carboxykinase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
