Carnitine palmitoyl transferase 1A deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. (Orphanet Rare Disease Ontology, Orphanet_156)
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1 genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
CPT1A carnitine palmitoyltransferase 1A (liver) 2.88009