Human Gene Set: HP_COMBINED_IMMUNODEFICIENCY


Standard name HP_COMBINED_IMMUNODEFICIENCY
Systematic name M36704
Brief description Combined immunodeficiency
Full description or abstract A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. [PMID:23321211]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0005387
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0005387
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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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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 41 genes
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Version history 2025.1.Hs: Updated to HPO Release 2025-05-06.

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