|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.
|CPT1A||carnitine palmitoyltransferase 1A (liver)||2.88009|