Phosphoenolpyruvate carboxykinase deficiency Gene Set

Dataset CTD 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 http://ctdbase.org/detail.go?type=disease&acc=MESH:C536654
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Genes

1 genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble) 2.88009