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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Apolipoprotein E, Deficiency or Defect of
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Accession:DOID:9003468 term browser browse the term
Synonyms:primary_id: MESH:C566260
 alt_id: RDO:0014662
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Apolipoprotein E, Deficiency or Defect of term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Apolipoprotein e, deficiency or defect of ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
Broad-Betalipoproteinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
Floating-Betalipoproteinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Floating-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis ClinVar PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
hyperlipoproteinemia type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16143024 NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E ISO ClinVar 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)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
DNA:missense mutation:cds:p.R158C (human)		 ClinVar
CTD
OMIM
RGD		 PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 More... RGD:1331525, RGD:12880367, RGD:14401584 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia ClinVar PMID:25741868 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    Nutritional and Metabolic Diseases 6817
      disease of metabolism 6817
        lipid metabolism disorder 1178
          Apolipoprotein E, Deficiency or Defect of 4
            hyperlipoproteinemia type III + 4
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        genetic disease 11373
          inherited metabolic disorder 4718
            lipid metabolism disorder 1178
              Apolipoprotein E, Deficiency or Defect of 4
                hyperlipoproteinemia type III + 4
paths to the root