|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset.
|PCK1||phosphoenolpyruvate carboxykinase 1 (soluble)||2.88009|