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]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0012113
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0012113
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references  
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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