Human Gene Set: HP_NEMALINE_BODIES


Standard name HP_NEMALINE_BODIES
Systematic name M36419
Brief description Nemaline bodies
Full description or abstract Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. [https://orcid.org/0000-0002-0736-9199, PMID:11333380]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003798
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0003798
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 19 genes
Gene families ? Categorize these 19 genes by gene family
Show members (show 19 source identifiers mapped to 19 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.