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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 chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
JBrowse link
G Mogat3 monoacylglycerol O-acyltransferase 3 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr12:19,668,703...19,669,420
Ensembl chr12:19,668,788...19,670,754
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 chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960
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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Trim56 tripartite motif containing 56 ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr12:19,544,913...19,567,324
Ensembl chr12:19,551,521...19,567,462
JBrowse link
G Vgf VGF nerve growth factor inducible ISO ClinVar Annotator: match by term: HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY ClinVar PMID:21681106 NCBI chr12:19,637,313...19,645,123
Ensembl chr12:19,637,320...19,640,341
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      hematopoietic system disease 2822
        blood coagulation disease 830
          hemorrhagic disease 799
            Plasminogen Activator Inhibitor-1 Deficiency 6
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Hemic and Lymphatic Diseases 3279
        hematopoietic system disease 2822
          blood coagulation disease 830
            hemorrhagic disease 799
              Plasminogen Activator Inhibitor-1 Deficiency 6
paths to the root