Carnitine-Acylcarnitine Translocase Deficiency Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
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1 genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 2.88009