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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:0081386
Term: TANGO2-related metabolic encephalopathy and arrythmias
Definition: A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26805782/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK476443/ "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: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATIONPMID:25741868 PMID:28492532
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