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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:Plasminogen Activator Inhibitor-1 Deficiency
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Accession:DOID:9008533 term browser browse the term
Synonyms:exact_synonym: Hyperfibrinolysis Due To Pai1 Deficiency
 primary_id: MESH:C567640;   RDO:0015656
 alt_id: OMIM:613329
 xref: NCI:C133884
For additional species annotation, visit the Alliance of Genome Resources.



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Plasminogen Activator Inhibitor-1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S1 adaptor related protein complex 1 subunit sigma 1 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 3:8,880,993...8,887,806
Ensembl chr 3:8,881,107...8,887,566
JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 3:8,911,787...8,919,525
Ensembl chr 3:8,911,787...8,919,516
JBrowse link
G SERPINE1 serpin family E member 1 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY OMIM
ClinVar
PMID:1435917 PMID:9207454 PMID:12856128 PMID:15650551 PMID:17656673 More... NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G TRIM56 tripartite motif containing 56 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 3:8,834,260...8,842,524
Ensembl chr 3:8,834,143...8,839,415
JBrowse link
G VGF VGF nerve growth factor inducible ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr 3:8,888,502...8,891,399
Ensembl chr 3:8,888,502...8,891,601
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14223
    disease of anatomical entity 13925
      hematopoietic system disease 2472
        blood coagulation disease 762
          hemorrhagic disease 735
            Plasminogen Activator Inhibitor-1 Deficiency 5
Path 2
Term Annotations click to browse term
  disease 14223
    disease of anatomical entity 13925
      Hemic and Lymphatic Diseases 2872
        hematopoietic system disease 2472
          blood coagulation disease 762
            hemorrhagic disease 735
              Plasminogen Activator Inhibitor-1 Deficiency 5
paths to the root