| 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 | |
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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) |
