Human Gene Set: HP_ANIRIDIA


Standard name HP_ANIRIDIA
Systematic name M34777
Brief description Aniridia
Full description or abstract Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. [https://orcid.org/0000-0002-0736-9199, https://orcid.org/0000-0003-0986-4123, PMID:24138039, PMID:25313118, PMID:29850208]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000526
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000526
Filtered by similarity ?
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  
Download gene set format: grp | gmt | xml | json | TSV metadata
Compute overlaps ? (show collections to investigate for overlap with this gene set)
Compendia expression profiles ? NG-CHM interactive heatmaps
(Please note that clustering takes a few seconds)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)

Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 45 genes
Gene families ? Categorize these 45 genes by gene family
Show members (show 45 source identifiers mapped to 45 genes)
Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

See MSigDB license terms here. Please note that certain gene sets have special access terms.