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GENE - TERM ANNOTATION REPORT

RGD ID: 2130
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Apoa1
Name: apolipoprotein A1
Acc ID: DOID:0080957
Term: primary hypoalphalipoproteinemia 1
Definition: A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/ "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)
Apoa1 ISOAPOA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1PMID:17303779 PMID:1901417 PMID:20884842 PMID:21443680 PMID:21820994 PMID:23209431 PMID:23770607 PMID:23806608 PMID:24081495 PMID:25034063 PMID:25741868 PMID:26530418 PMID:26562506 PMID:26605794 PMID:27135400 PMID:27785680 PMID:28492532 PMID:28870971 PMID:29083407 PMID:29353225 PMID:30184436 PMID:30333156 PMID:32041611 PMID:32666307 PMID:8240372
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