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GENE - TERM ANNOTATION REPORT

CRRD ID: 735093
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Bicd2
Name: BICD cargo adaptor 2
Acc ID: DOID:12377
Term: spinal muscular atrophy
Definition: A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Definition Source(s): MESH:D009134, http://en.wikipedia.org/wiki/Spinal_muscular_atrophy, https://www.ncbi.nlm.nih.gov/pubmed/26022173
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:13520418554872ClinVarClinVar Annotator: match by term: Spinal muscular atrophy

PMID:22628388, PMID:23664116, PMID:23664119, PMID:23664120, PMID:25497877, PMID:27784775, PMID:28251916, PMID:28492532, PMID:8114789
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