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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.


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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 PMID:2992507, PMID:3243553, PMID:6300187, PMID:9649566, PMID:16103896, PMID:16143024, PMID:17289397, PMID:19667110, PMID:20031551, PMID:20031582, PMID:22992668, PMID:25741868 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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 8:50,559,079...50,561,720
Ensembl chr 8:50,559,126...50,561,736
JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: APOE5 VARIANT
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia
ClinVar Annotator: match by term: BROAD-BETALIPOPROTEINEMIA
DNA:missense mutation:cds:p.R158C (human)
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
ClinVar Annotator: match by term: FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia, UMLS MESH term: Broad-beta Hyperlipoproteinemia
ClinVar
OMIM
CTD
PMID:1356443, PMID:1360898, PMID:1361196, PMID:1713245, PMID:2101409, PMID:2313204, PMID:2556398, PMID:2992507, PMID:3029073, PMID:3038959, PMID:3243553, PMID:3721502, PMID:3771793, PMID:6300187, PMID:6313758, PMID:6795720, PMID:7175379, PMID:7635945, PMID:9649566, PMID:12506591, PMID:15096402, PMID:16103896, PMID:16143024, PMID:17289397, PMID:19667110, PMID:20031551, PMID:20031582, PMID:22992668, PMID:25741868, PMID:28492532, PMID:15118671, PMID:7175379, PMID:199847 RGD:1331525, RGD:14401584, RGD:12880367 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          Apolipoprotein E, Deficiency or Defect of 3
            hyperlipoproteinemia type III + 3
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              Apolipoprotein E, Deficiency or Defect of 3
                hyperlipoproteinemia type III + 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.