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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:0070349
Term: spinal muscular atrophy with lower extremity predominant 2A
Definition: A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23664120/ "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)7240710OMIM  
BICD2 ISOBICD2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominantPMID:11241493 PMID:17576681 PMID:21208200 PMID:21494555 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24002164 PMID:24336790 PMID:25326635 PMID:25497877 PMID:25741868 PMID:25802885 PMID:26467025 PMID:26752647 PMID:26998597 PMID:27549087 PMID:27751653 PMID:27784775 PMID:28251916 PMID:28335620 PMID:28492532 PMID:28635954 PMID:28832565 PMID:28883039 PMID:29273277 PMID:29528393 PMID:30373780 PMID:31561939 PMID:31692161 PMID:32056343 PMID:32057122 PMID:32581362 PMID:33060286 PMID:35354563 PMID:7887410 PMID:8114789 PMID:8981948 PMID:9536098 PMID:9713859
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