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GENE - TERM ANNOTATION REPORT

RGD ID: 1589353
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Noxred1
Name: NADP-dependent oxidoreductase domain containing 1
Acc ID: DOID:0070157
Term: hereditary sensory and autonomic neuropathy type 1C
Definition: A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20920666 "DO" "DO"
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)
Noxred1 ISONOXRED1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1CPMID:28492532
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