DESCRIPTION:
Human Phenotype Ontology (HPO) gene set. This set contains genes that have been annotated to the HPO term "Reduced red cell adenosine deaminase activity", which is defined as "Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine." This gene set was automatically constructed using annotation and ontology data provided by HPO and includes gene-phenotypes annotations from all HPO sources. The transitive closure of this term is taken into account using is_a relationships. For more information: The Human Phenotype Ontology Consortium (HPOC), http://human-phenotype-ontology.org This gene set was generated using the GeneWeaver HPO loader v. 0.1.5, HPO OBO v. hp/releases/2020-03-27, and HPO Genes to Phenotypes (all sources, all frequencies) v. 2020.05.06.
LABEL:
HP:0030273
SCORE TYPE:
Binary
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Uploaded As | Gene Symbol | Homology | Score | Priority | LinkOuts | Emphasis |
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