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Resources » Disease Ontology

autosomal dominant sensory ataxia 1

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  • Overview

    autosomal dominant sensory ataxia 1

    Ontology Term:
    Status:
    Live
    Synonym:
    ADSA
    SNAX1
    Type:
    Mapping to OMIM ID:
    Comparative Info:
    Learn more about this disease from studies in other model systems at the
    WormBase ID:
    DOID:0111170
    A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8.
    Child:
    Associations based on experimental data:
    Disease relevant gene:
    Automatic gene associations:
    Gene Human Orthologs
    Y38F1A.2
    1 Inferred automatically: Inferred by orthology to human genes with OMIM annotation