Human Gene Set: HP_ABNORMAL_CIRCULATING_CREATINE_CONCENTRATION
Standard name
HP_ABNORMAL_CIRCULATING_CREATINE_CONCENTRATION
Systematic name
M47202
Brief description
Abnormal circulating creatine concentration
Full description or abstract
A deviation from the normal concentration of creatine in the blood circulation. 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. [https://orcid.org/0000-0002-0736-9199]