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Entry Name Description Category Pathway Gene
H02448 Harel-Yoon syndrome ... neuropathy, and hypertrophic cardiomyopathy. It has been reported that HAYOS is caused by mutations in ATAD3A, encoding a mitochondrial membrane protein. ATAD3A is implicated in mitochondrial dynamics, nucleoid ... Nervous system disease ATAD3A [HSA:55210] [KO:K17681]
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