|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. (Orphanet Rare Disease Ontology, Orphanet_159)|
|Downloads & Tools|
1 genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.
|SLC25A20||solute carrier family 25 (carnitine/acylcarnitine translocase), member 20||2.88009|