Disease Annotation

Gene Info

  • Species:Human (Homo sapiens)
  • GeneID:6261
  • Symbol:RYR1
  • Description:ryanodine receptor 1

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Disease_Term Source Rank Other Values
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3) OMIM high
  • Genome region :19q13.2
  • OMIM_ID :117000OMIM phenotype ID
  • OMIM_ID :180901OMIM gene ID
King-Denborough syndrome, 145600 (3) OMIM high
  • Genome region :19q13.2
  • OMIM_ID :145600OMIM phenotype ID
  • OMIM_ID :180901OMIM gene ID
{Malignant hyperthermia susceptibility 1}, 145600 (3) OMIM high
  • Genome region :19q13.2
  • OMIM_ID :145600OMIM phenotype ID
  • OMIM_ID :180901OMIM gene ID
Minicore myopathy with external ophthalmoplegia, 255320 (3) OMIM high
  • Genome region :19q13.2
  • OMIM_ID :180901OMIM gene ID
  • OMIM_ID :255320OMIM phenotype ID
Central core disease, 117000 (3) OMIM high
  • Genome region :19q13.2
  • OMIM_ID :117000OMIM phenotype ID
  • OMIM_ID :180901OMIM gene ID
Diisocyanate-induced asthma GWAS high