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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00999 | Coenzyme Q10 deficiency | Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations, including pure myopathy, myopathy with encephalopathy, cerebellar atrophy with ataxia, and infantile multisystem ... | Inherited metabolic disorder |
(COQ10D1) COQ2 [HSA:27235] [KO:K06125] (COQ10D2) PDSS1 [HSA:23590] [KO:K12504] (COQ10D3) PDSS2 [HSA:57107] [KO:K12505] (COQ10D4) COQ8A [HSA:56997] [KO:K08869] (COQ10D5) COQ9 [HSA:57017] [KO:K18587] (COQ10D6) COQ6 [HSA:51004] [KO:K06126] (COQ10D7) COQ4 [HSA:51117] [KO:K18586] (COQ10D8) COQ7 [HSA:10229] [KO:K06134] (COQ10D9) COQ5 [HSA:84274] [KO:K06127] |
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| H01614 | Multiple system atrophy | ... central player in the pathogenesis of MSA. Although MSA is widely considered to be a nongenetic disorder, genetic mutations of the COQ2 gene have been linked to MSA as identified in Japanese families. | Neurodegenerative disease | COQ2 [HSA:27235] [KO:K06125] |
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