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FLASH GENE
Symbol RYR3 contributors: SGE/npt - updated : 28-03-2018
HGNC name ryanodine receptor 3
HGNC id 10485
ASSOCIATED DISORDERS
corresponding disease(s) NEM12
Susceptibility
  • to severe epileptic encephalopathies
  • to hypertension, diabetes and Alzheimer disease
  • Variant & Polymorphism SNP , other
  • causative role of RYR3 mutations in severe epileptic encephalopathies
  • three SNPs (rs2033610, rs2596164, and rs2278317) are significantly associated with risk for hypertension, diabetes and AD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS