Human Gene Set: HP_MYOTONIA


Standard name HP_MYOTONIA
Systematic name M35854
Brief description Myotonia
Full description or abstract An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0002486
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0002486
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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 34 genes
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Show members (show 34 source identifiers mapped to 34 genes)
Version history 2025.1.Hs: Updated to HPO Release 2025-05-06.

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