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GENE - TERM ANNOTATION REPORT

RGD ID: 14225433
Species: Sus scrofa
RGD Object: Gene
Symbol: SLC5A7
Name: solute carrier family 5 member 7
Acc ID: DOID:0111199
Term: autosomal dominant distal hereditary motor neuronopathy 7
Definition: An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23141292 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7420092 "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)
SLC5A7 ISOSLC5A7 (Homo sapiens)7240710OMIM  
SLC5A7 ISOSLC5A7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viiaPMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 PMID:33250374 PMID:36703223 PMID:7420092 PMID:9536098
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