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GENE - TERM ANNOTATION REPORT

RGD ID: 12154154
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SLC5A7
Name: solute carrier family 5 member 7
Acc ID: DOID:0111201
Term: distal hereditary motor neuronopathy type 7A
Definition: A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23141292 "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)
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