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GENE - TERM ANNOTATION REPORT

RGD ID: 732770
Species: Homo sapiens
RGD Object: Gene
Symbol: ABCG8
Name: ATP binding cassette subfamily G member 8
Acc ID: DOID:1168
Term: familial hyperlipidemia
Definition: Conditions with excess LIPIDS in the blood.
Definition Source(s): MESH:D006949
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)
ABCG8susceptibilityIAGP 1601097RGDsitosterolemia;DNA:missense mutation, nonsense mutation: :p.G574A, 1083G>A 
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