ataxia with isolated vitamin e deficiency Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. (Orphanet Rare Disease Ontology, Orphanet_96)
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1 genes associated with the ataxia with isolated vitamin e deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
TTPA tocopherol (alpha) transfer protein