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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:Elevated Adenosine Triphosphate of Erythrocytes
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Accession:DOID:9002812 term browser browse the term
Synonyms:exact_synonym: Pyruvate Kinase Hyperactivity
 primary_id: MESH:C566310
 alt_id: OMIM:102900
For additional species annotation, visit the Alliance of Genome Resources.


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Elevated Adenosine Triphosphate of Erythrocytes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pklr pyruvate kinase L/R ISO ClinVar Annotator: match by OMIM:102900
ClinVar Annotator: match by term: Adenosine triphosphate, elevated, of erythrocytes
OMIM
ClinVar
PMID:4160306, PMID:7706479, PMID:7948315, PMID:8483951, PMID:9090535, PMID:9827908, PMID:11054094, PMID:11328279, PMID:11960989, PMID:16704447, PMID:17574881, PMID:18759866, PMID:24033266, PMID:25741868, PMID:26728349, PMID:27346685, PMID:27871768, PMID:28133914, PMID:28492532 NCBI chr 2:188,449,158...188,458,034
Ensembl chr 2:188,449,210...188,459,592
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      hematopoietic system disease 1641
        Elevated Adenosine Triphosphate of Erythrocytes 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          Elevated Adenosine Triphosphate of Erythrocytes 1
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.