Human Gene Set: HP_BLEPHAROPHIMOSIS


Standard name HP_BLEPHAROPHIMOSIS
Systematic name M34813
Brief description Blepharophimosis
Full description or abstract A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. [PMID:19125427]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000581
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000581
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 129 genes
Gene families ? Categorize these 129 genes by gene family
Show members (show 129 source identifiers mapped to 129 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.