Human Gene Set: HP_MACULAR_DRUSEN


Standard name HP_MACULAR_DRUSEN
Systematic name M47251
Brief description Macular drusen
Full description or abstract Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0030499
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0030499
Filtered by similarity ? (show 1 similar ontology term(s) from the external resource)
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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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 8 genes
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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