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Entry Name Description Category Pathway Gene
H02739 Childhood-onset neurodegeneration with ataxia, tremor, optic atrophy, and cognitive decline ... optic atrophy, and cognitive decline (CONATOC) is a neurodegenerative disease caused by mutations in the SLC44A1 gene encoding choline transporter-like protein 1 (CTL1). CTL1 is a highly conserved Na+-independent ... Nervous system disease (CONATOC) SLC44A1 [HSA:23446] [KO:K06515]
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