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GENE - TERM ANNOTATION REPORT

RGD ID: 12579196
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Angptl3
Name: angiopoietin like 3
Acc ID: DOID:0111061
Term: familial hypobetalipoproteinemia 2
Definition: A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20942659 "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)
Angptl3 ISOANGPTL3 (Homo sapiens)7240710OMIM  
Angptl3 ISOANGPTL3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial hypobetalipoproteinemia 2PMID:19075393 PMID:20942659 PMID:22062970 PMID:22247256 PMID:25741868 PMID:28492532 PMID:32041611
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