systemic primary carnitine deficiency disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. (Human Disease Ontology, DOID_14365)
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Genes

1 genes involed in the disease systemic primary carnitine deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5