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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00981 |
Ataxia with isolated vitamin E deficiency (AVED) Friedreich-like ataxia |
... autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia. AVED patients ... | Inherited metabolic disorder | TTPA [HSA:7274] [KO:K24455] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |