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GENE - TERM ANNOTATION REPORT

RGD ID: 69270
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc5a7
Name: solute carrier family 5 member 7
Acc ID: DOID:0111199
Term: distal hereditary motor neuronopathy type 7
Definition: An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7420092
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13488398554872ClinVarClinVar Annotator: match by term: Distal hereditary motor neuronopathy type 7

PMID:11294660, PMID:23141292, PMID:7420092
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.