Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 56704
  • Symbol: JPH1
  • Description: junctophilin 1

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Disease_Term Source Rank Other Values
?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, 607831 (3) OMIM high
  • Genome region : 8q21.11
  • OMIM_ID : 605266 OMIM gene ID
  • OMIM_ID : 607831 OMIM phenotype ID
Carotid plaque burden (smoking interaction) GWAS high