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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:0070350
Term: spinal muscular atrophy with lower extremity predominant 2B
Definition: A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita 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/28635954/ "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: BICD2-related condition | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominantPMID:11241493 PMID:21208200 PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27751653 PMID:28492532 PMID:28635954 PMID:28832565 PMID:30054298
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