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GENE - TERM ANNOTATION REPORT

RGD ID: 2138
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Apoe
Name: apolipoprotein E
Acc ID: DOID:3145
Term: hyperlipoproteinemia type III
Definition: A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. (DO)
Definition Source(s): https://omim.org/entry/617347 "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)
Apoe ISOAPOE (Homo sapiens)12880367RGDDNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) 
Apoe ISOAPOE (Homo sapiens)14401584RGDDNA:missense mutation:cds:p.R158C (human) 
Apoe ISOAPOE (Homo sapiens)7240710OMIM  
Apoe ISOAPOE (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:9649566 PMID:12506591 PMID:16143024
Apoe ISOAPOE (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)PMID:10587578 PMID:11500500 PMID:12774036 PMID:1356443 PMID:1360898 PMID:1361196 PMID:15096402 PMID:15256764 PMID:16103896 PMID:16143024 PMID:16690468 PMID:1713245 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:2101409 PMID:22069485 PMID:22949395 PMID:22992668 PMID:24126160 PMID:24239320 PMID:24507774 PMID:25502880 PMID:2556398 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:28559539 PMID:2992507 PMID:3029073 PMID:3038959 PMID:3243553 PMID:32808727 PMID:33116287 PMID:35120450 PMID:35628605 PMID:35639372 PMID:3721502 PMID:3745433 PMID:3771793 PMID:6300187 PMID:6795720 PMID:7175379 PMID:7635945 PMID:7735921 PMID:8488843 PMID:9157949 PMID:9176854 PMID:9279208 PMID:9360638 PMID:9649566
Apoe ISOAPOE (Homo sapiens)1331525GAD  
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