abnormality of creatine metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the concentration or homeostasis of creatine. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. (Human Phenotype Ontology, HP_0012113)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012113
Similar Terms
Downloads & Tools


1 genes associated with the abnormality of creatine metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)