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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:0110185
Term: Charcot-Marie-Tooth disease type 4A
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11743579 "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: Charcot-Marie-Tooth Neuropathy Type 4APMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954
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