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GENE - TERM ANNOTATION REPORT

RGD ID: 18933406
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Lims1
Name: LIM zinc finger domain containing 1
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)
Lims1 ISOLIMS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7APMID:28492532
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