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GENE - TERM ANNOTATION REPORT

RGD ID: 3866
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nkx2-1
Name: NK2 homeobox 1
Acc ID: DOID:9277
Term: primary cerebellar degeneration
Definition: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
Definition Source(s): MESH:D013132
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Nkx2-1 ISONKX2-1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary ataxiaPMID:24453141 PMID:25741868 PMID:29109906
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