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Entry | Name | Description | Category | Pathway | Gene |
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H00848 | Ataxia with ocular apraxia | Ataxia with oculomotor apraxia (AOA) is a group of autosomal recessive cerebellar ataxias mainly characterized by ataxia, oculomotor apraxia and choreoathetosis. AOA includes ataxia telangiectasia (AT) ... | Nervous system disease |
(AOA1) APTX [HSA:54840] [KO:K10863] (AOA2) SETX [HSA:23064] [KO:K10706] (AOA3) PIK3R5 [HSA:23533] [KO:K21290] (AOA4) PNKP [HSA:11284] [KO:K08073] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |