Human Gene Set: HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA


Standard name HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA
Systematic name M36338
Brief description Subsarcolemmal accumulations of abnormally shaped mitochondria
Full description or abstract An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003548
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0003548
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 6 genes
Gene families ? Categorize these 6 genes by gene family
Show members (show 6 source identifiers mapped to 6 genes)
Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

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