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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:0070348
Term: spinal muscular atrophy with lower extremity predominant
Definition: A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance "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: Spinal muscular atrophy with lower extremity predominancePMID:29274205 PMID:33547725 PMID:35627109
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