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GENE - TERM ANNOTATION REPORT

RGD ID: 14018267
Species: Sus scrofa
RGD Object: Gene
Symbol: BICD2
Name: BICD cargo adaptor 2
Acc ID: DOID:0111198
Term: autosomal dominant distal hereditary motor neuronopathy
Definition: A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15358725 "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)
BICD2 ISOBICD2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominantPMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24336790 PMID:25497877 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27784775 PMID:28251916 PMID:28492532 PMID:28832565 PMID:28883039 PMID:32581362 PMID:8114789
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