Human Gene Set: HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION


Standard name HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION
Systematic name M41387
Brief description Abnormal circulating porphyrin concentration
Full description or abstract An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0010472
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0010472
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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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NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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