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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |