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GENE - TERM ANNOTATION REPORT

RGD ID: 736378
Species: Homo sapiens
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 IAGP 12880367RGDDNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) 
APOE IAGP 14401584RGDDNA:missense mutation:cds:p.R158C (human) 
APOE IAGP 7240710OMIM  
APOE EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:9649566 PMID:12506591 PMID:16143024
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: APOE5 VARIANTPMID:1713245
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:22949395 PMID:24126160 PMID:25741868 PMID:32808727 PMID:35120450 PMID:35628605 PMID:35639372 PMID:8488843 PMID:9279208 PMID:9360638
APOE IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemiaPMID:25741868
APOE IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Floating-betalipoproteinemiaPMID:25741868 PMID:28492532
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:25741868 PMID:28559539
APOE IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia 
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:1360898
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Floating-betalipoproteinemiaPMID:16103896 PMID:16143024 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:22992668 PMID:25741868 PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:3038959 PMID:3243553
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:11500500 PMID:16690468 PMID:20981092 PMID:22069485 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:3243553 PMID:33116287 PMID:3745433 PMID:6300187 PMID:7735921 PMID:9157949
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:3029073 PMID:3771793 PMID:6795720
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:15096402 PMID:2556398 PMID:3721502 PMID:7175379
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:1356443 PMID:7635945
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)PMID:1361196 PMID:3029073 PMID:6795720
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemiaPMID:15256764 PMID:2101409 PMID:25741868 PMID:3243553 PMID:9176854
APOE IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility toPMID:10587578 PMID:12774036
APOE IEA 1331525GAD  
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