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GENE - TERM ANNOTATION REPORT

RGD ID: 14216399
Species: Sus scrofa
RGD Object: Gene
Symbol: ACTN2
Name: actinin alpha 2
Acc ID: DOID:893
Term: Wilson disease
Definition: A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/32279718/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Wilson-Disease "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)
ACTN2 ISOACTN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Wilson diseasePMID:24082139 PMID:25326637 PMID:25741868 PMID:28492532
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