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FLASH GENE

Symbol

RYR3

contributors: SGE/npt - updated : 28-03-2018

HGNC name	ryanodine receptor 3
HGNC id	10485

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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