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GENE - TERM ANNOTATION REPORT

RGD ID: 735787
Species: Homo sapiens
RGD Object: Gene
Symbol: APOB
Name: apolipoprotein B
Acc ID: DOID:9002123
Term: Familial Hypobetalipoproteinemia, Apolipoprotein B
Definition: An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption.
Definition Source(s): MESH:D052476
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)
APOB EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:2567736 PMID:2843815 PMID:3473077
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